Vitruvian Man<\/h3>\r\n<\/div>\r\nThe drawing in Figure 5.17.1, named Vitruvian Man<\/em><\/a>, was created by Leonardo da Vinci<\/a> in 1490. It was meant to show normal\u00a0human body\u00a0proportions.\u00a0Vitruvian<\/em>\u00a0Man<\/em>\u00a0is used today to represent a different approach to the\u00a0human body. It symbolizes a scientific\u00a0research\u00a0project that began in 1990, exactly 500 years after\u00a0da Vinci created the drawing. That project, called the Human Genome Project, is the largest collaborative biological\u00a0research\u00a0project ever undertaken.\r\n\r\nWhat Is the Human Genome?<\/h3>\r\n<\/div>\r\nThe\u00a0[pb_glossary id=\"2602\"]human genome[\/pb_glossary]\u00a0<\/strong>refers to all the [pb_glossary id=\"277\"]DNA[\/pb_glossary] of the human species. Human DNA consists of 3.3 billion base pairs, and it is divided into more than 20 thousand [pb_glossary id=\"5521\"]genes[\/pb_glossary] on 23 [pb_glossary id=\"5619\"]chromosomes[\/pb_glossary]. Humans inherit one set of chromosomes from each parent. So there are actually two copies of each of those 20,000 genes. The human genome also includes noncoding sequences of DNA, as shown in Figure 5.17.2.\r\n\r\n[caption id=\"attachment_2603\" align=\"aligncenter\" width=\"500\"]![\"The](\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Human-Genome-2.png\")
Figure 5.17.2 Human Genome, Chromosomes, and Genes. Each chromosome of the human genome contains many genes, as well as noncoding intergenic (between genes) regions. Each pair of chromosomes is shown here in a different colour.<\/em>[\/caption]\r\n\r\n\r\nDiscovering the Human Genome<\/h1>\r\n<\/div>\r\nScientists now know the sequence of all the\u00a0DNA\u00a0base\u00a0pairs in the entire human genome. This knowledge was attained by the\u00a0[pb_glossary id=\"2604\"]Human Genome Project[\/pb_glossary]<\/strong>\u00a0<\/strong>(HGP<\/a>),\u00a0<\/strong>a $3 billion, international scientific\u00a0research\u00a0project that was formally launched in 1990. The project was completed in 2003, two years ahead of its 15-year projected deadline.\r\n\r\nDetermining the sequence of the billions of\u00a0base\u00a0pairs that make up human\u00a0[pb_glossary id=\"277\"]DNA[\/pb_glossary]\u00a0was the main goal of the HGP<\/a>. Another goal was\u00a0to map\u00a0the\u00a0location\u00a0and\u00a0determine\u00a0the function of all the genes in the human genome.\u00a0A\u00a0somewhat surprising finding of the HGP is\u00a0the relatively small number of human genes. There are only about 20,500 genes in human beings. This may sound like a lot, but it's about the same number as in mice. Another surprising finding of the HGP is the large number of nearly identical, repeated DNA segments in the human genome. This number was previously\u00a0believed\u00a0to be much smaller.\r\nA Collaborative Effort<\/h2>\r\n[caption id=\"attachment_2605\" align=\"alignright\" width=\"335\"]![\"The](\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Human-genome_bookcase-2.png\")
Figure 5.17.3 The first printout of the human genome to be presented as a series of books, displayed in the 'Medicine Now' room at the Wellcome Collection, London. The 3.4 billion units of DNA code are transcribed into more than a hundred volumes, each a thousand pages long, in type so small as to be barely legible.<\/em>[\/caption]\r\n\r\nFunding for the HGP came from the U.S. Department of\u00a0Energy\u00a0and the National Institutes of Health, as well as from foreign institutions. The actual research was undertaken by scientists in 20 universities in the U.S., United\u00a0Kingdom, Australia, France, Germany, Japan, and China. A private U.S. company named Celera<\/a> also contributed to the effort. Although Celera had hoped to patent some of the genes it discovered, this was later denied. The entire DNA sequence of the genome is stored in databases that are available to anyone on the Internet. Additional data and tools for analyzing the human genome are also available online.\r\nReference Genome of the Human Genome Project<\/h2>\r\nIn 2003, the HGP published the results of its sequencing of DNA as a human reference genome. The reference genome sequences a full set of\u00a0human chromosomes, but it clearly doesn't represent the sequence of\u00a0every<\/em> human individual's genome. Instead, it is the combined mosaic of a small number of anonymous donors. The DNA that was sequenced came from\u00a0blood\u00a0samples of the female donors and\u00a0sperm\u00a0samples of the male donors. All of the donors were of European origin, and more\u00a0than 70 per cent of the reference DNA came from a single anonymous male donor from Buffalo, New York. Identities of all the donors\u00a0were protected so neither they nor the researchers could know whose DNA was sequenced.\r\n\r\nSubsequent projects have sequenced the genomes of multiple distinct ethnic groups. Ongoing research is searching base by base for variations in the sequence. However, there is still only one reference genome available.\r\nBenefits of the Human Genome Project<\/h2>\r\nThe sequencing of the human genome\u00a0has\u00a0benefits for many fields, including molecular medicine and\u00a0human evolution.\r\n\r\n \t- Knowing the human DNA sequence can help us understand many human diseases. For example, it is helping\u00a0researchers\u00a0identify\u00a0mutations\u00a0linked to different forms of\u00a0[pb_glossary id=\"5605\"]cancer[\/pb_glossary]. It is also yielding insights into the genetic basis of cystic fibrosis, liver diseases, blood-clotting disorders, and Alzheimer's disease, among others.<\/li>\r\n \t
- The human DNA sequence can also help researchers tailor medications to individual [pb_glossary id=\"6039\"]genotypes[\/pb_glossary]. This is called personalized medicine, and it has led to an entirely new field called pharmacogenomics. [pb_glossary id=\"5487\"]Pharmacogenomics[\/pb_glossary],<\/strong> also called pharmacogenetics, is the study of how our genes affect the way we respond to drugs. You can read more about pharmacogenomics in the Feature section below.<\/li>\r\n \t
- The analysis of similarities between DNA sequences from different organisms is opening new avenues in the study of evolution. For example, analyses are expected to shed light on many questions about the similarities and differences between humans and our closest relatives, the nonhuman\u00a0primates.<\/li>\r\n<\/ul>\r\n
Ethical, Legal, and Social Issues of the Human Genome Project<\/h2>\r\nFrom its launch in 1990, the HGP proactively established and funded a separate committee to oversee potential ethical, legal, and social issues associated with the project.\u00a0 Some of these possible issues include:\r\n\r\n \t- The possible use of the knowledge generated by the project to discriminate against people. There were worries that that employers and health insurance companies would refuse to hire or insure people based on their genetic makeup, for instance, if they had genes that increased their risk of getting certain diseases.<\/li>\r\n \t
- The issues surrounding \"ownership\" of DNA sequences.\u00a0 There have been requests by the both governmental agencies and private companies for patents of certain sequences of human genes called cDNA, although the US Patent Office has rejected all applications.<\/li>\r\n \t
- Education of healthcare professionals, policy makers and the public about the complex issues involved in the HGP and what is done with the information acquired from it.<\/li>\r\n<\/ul>\r\nFeature: Human Biology in the News<\/span>\r\n\r\nNot everyone responds to medications in the same way. A drug that works well for one person may not be effective\u00a0for\u00a0another. The dose of a drug that cures a disease in one individual may be inadequate for someone else. Some people may experience side effects from a given medication, whereas other people do not. This variation in responses to medications can be due to differences in our [pb_glossary id=\"5521\"]genes[\/pb_glossary]. That's where the field of pharmacogenetics comes in. News media have hailed it as the \"new frontier in medicine.\" It certainly seems to hold promise for improving the treatment of patients with pharmaceutical drugs.\r\n\r\nPharmacogenomics is based on a special kind of genetic testing. It looks for small genetic variations that influence a person's ability to activate and deactivate drugs. Results of the tests can help doctors choose the best drug and most effective dose for a given patient. Some of the greatest successes of pharmacogenomics have been in\u00a0cancer\u00a0treatment. Many of the drugs that treat cancer need to be activated by the patient's own\u00a0enzymes. Inherited variations in enzymes may affect how quickly or efficiently the drugs are activated. For example, if a patient's enzymes break down a particular drug too slowly, then standard doses of the drug may not work very well for that patient. Drugs also must be deactivated to reduce their effects on healthy\u00a0cells. If a patient's enzymes deactivate a drug too slowly, then the drug may remain at high levels and cause side effects.\r\n\r\nOne of the main benefits of pharmacogenomics is greater patient safety. Pharmacogenomic testing may help identify patients who are likely to experience adverse reactions to drugs, so that different, safer drugs can be prescribed. Another benefit of pharmacogenomics is eliminating the trial-and-error approach that is often used to find appropriate medications and doses for a given patient. This saves time and money, as well as improving patient outcomes.\r\n\r\nBecause pharmacogenomics is new, some insurance companies do not cover it, and it can be very expensive. Also, not all of the genetic tests are widely available at this point. In addition, there may be ethical and legal issues associated with the genetic testing, including concerns about privacy issues.\r\n
\r\n5.17 Summary<\/span><\/h1>\r\n<\/header>\r\n\r\n\r\n \t- The human genome refers to all of the [pb_glossary id=\"277\"]DNA[\/pb_glossary] of the human species. It consists of more than 3.3 billion base pairs divided into 20,500 [pb_glossary id=\"5521\"]genes [\/pb_glossary] on 23 pairs of [pb_glossary id=\"5619\"]chromosomes[\/pb_glossary].<\/li>\r\n \t
- The [pb_glossary id=\"2604\"]Human Genome Project[\/pb_glossary] (HGP) was a multi-billion dollar international research project that began in 1990. By 2003, it had sequenced all of the DNA base pairs in the human genome. It also mapped the\u00a0location\u00a0and determined the function of all the genes in the human genome.<\/li>\r\n \t
- In 2003, the HGP published the results of its sequence of DNA as a human reference genome. The entire DNA sequence is stored in databases that are available to anyone on the Internet.<\/li>\r\n \t
- Sequencing of the human genome is helping researchers better understand\u00a0cancer\u00a0and [pb_glossary id=\"2562\"]genetic diseases[\/pb_glossary]. It is also helping them tailor medications to individual patients, which is the focus of the new field of pharmacogenomics. In addition, it is helping researchers better understand\u00a0human evolution.<\/li>\r\n \t
- From its launch in 1990, the HGP established and funded a separate committee to oversee potential ethical, legal, and social issues associated with the project.<\/li>\r\n<\/ul>\r\n<\/div>\r\n<\/div>\r\n\r\n
\r\n5.17 Review Questions<\/span><\/h1>\r\n<\/header>\r\n\r\n\r\n \t- Describe the human genome.<\/li>\r\n \t
- What is the Human Genome Project?<\/li>\r\n \t
- Identify two main goals of the Human Genome Project.<\/li>\r\n \t
- What is the reference genome of the Human Genome Project? What is it based on?<\/li>\r\n \t
- Explain how knowing the sequence of DNA bases in the human genome is beneficial for molecular medicine.<\/li>\r\n \t
- What was one surprising finding of the Human Genome Project?<\/li>\r\n \t
- Why do you think scientists didn\u2019t just sequence the DNA from a single person for the Human Genome Project? Along those lines, why do you think it is important to include samples from different ethnic groups and genders in genome sequencing efforts?<\/li>\r\n \t
- What is pharmacogenomics?<\/li>\r\n \t
- If a patient were to have pharmacogenomics done to optimize their medication, what do you think the first step would be?<\/li>\r\n \t
- List one advantage and one disadvantage of pharmacogenomics.<\/li>\r\n \t
- Explain how the sequencing of the human genome relates to ethical concerns about genetic discrimination.<\/li>\r\n<\/ol>\r\n<\/div>\r\n<\/div>\r\n
\r\n5.17 Explore More<\/span><\/h1>\r\n<\/header>\r\n\r\n\r\nhttps:\/\/www.youtube.com\/watch?v=AhsIF-cmoQQ\r\nThe race to sequence the human genome - Tien Nguyen, TED-Ed, 2015.<\/p>\r\n \r\n\r\nhttps:\/\/www.youtube.com\/watch?v=s6rJLXq1Re0\r\n
How to read the genome and build a human being | Riccardo Sabatini, TED, 2016.<\/p>\r\n \r\n\r\nhttps:\/\/www.youtube.com\/watch?v=J2ITkfzp0SY\r\n
Personalized Medicine: A New Approach | Luigi Boccuto | TEDxGreenville,\r\nTEDx Talks, 2017.<\/p>\r\n \r\n\r\n<\/div>\r\n<\/div>\r\nAttributions<\/span>\r\n\r\n<\/div>\r\nFigure 5.17.1<\/strong>\r\n\r\nVitruvian_man (black and white copy)<\/a> by Leonardo Da Vinci,<\/a> 1490, by Ianbond<\/a> on Wikimedia Commons is released into the public domain<\/a> (https:\/\/en.wikipedia.org\/wiki\/Public_domain).\r\n\r\nFigure 5.17.2<\/strong>\r\n\r\nHuman Genome<\/a>\u00a0by CK-12 Foundation<\/a>\u00a0 is used under a\u00a0CC BY-NC 3.0<\/a>\u00a0 (https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/) license.\r\n\r\n![\"\"](\"https:\/\/www.ck12info.org\/wp-content\/uploads\/2016\/05\/logo_ck12.png\")
\u00a9<\/span>CK-12 Foundation<\/a> Licensed under\u00a0<\/span>![\"CK-12](\"https:\/\/www.ck12info.org\/wp-content\/uploads\/2016\/05\/icon_licence.png\" "\\"CK-12")
<\/a>\u00a0\u2022\u00a0<\/span>Terms of Use<\/a>\u00a0\u2022\u00a0<\/span>Attribution<\/a>\r\n\r\nFigure 5.17.3<\/strong>\r\n\r\nHuman genome_bookcase<\/a> by Russ London<\/a> at English Wikipedia is used under a CC BY-SA 3.0<\/a>\u00a0(https:\/\/creativecommons.org\/licenses\/by-sa\/3.0\/deed.en) license.\r\nReferences<\/h2>\r\n
Brainard, J\/ CK-12 Foundation. (2016). Figure 2 Human genome, chromosomes, and genes. [digital image]. In CK-12 College Human Biology<\/em> (Section 5.16) [online Flexbook]. CK12.org. https:\/\/www.ck12.org\/book\/ck-12-college-human-biology\/section\/5.16\/<\/p>\r\nNational Human Genome Research Institute (NHGRI). (n.d.). The Human Genome Project (HGP). National Institute of Health (NIH) \/US Government. https:\/\/www.genome.gov\/human-genome-project<\/p>\r\n
TED. (2016, May 24). How to read the genome and build a human being | Riccardo Sabatini. YouTube. https:\/\/www.youtube.com\/watch?v=s6rJLXq1Re0&t=2s<\/p>\r\n
TED-Ed. (2015, October 12). The race to sequence the human genome - Tien Nguyen. YouTube. https:\/\/www.youtube.com\/watch?v=AhsIF-cmoQQ&t=7s<\/p>\r\n
TEDx Talks. (2017, June 8). Personalized medicine: A new approach | Luigi Boccuto | TEDxGreenville. https:\/\/www.youtube.com\/watch?v=J2ITkfzp0SY&t=4s<\/p>\r\n
Wikipedia contributors. (2020, April 18). Celera Corporation. In Wikipedia<\/em>.\u00a0 https:\/\/en.wikipedia.org\/w\/index.php?title=Celera_Corporation&oldid=951693886<\/p>\r\nWikipedia contributors. (2020, July 6). Human Genome Project. In Wikipedia<\/em>. https:\/\/en.wikipedia.org\/w\/index.php?title=Human_Genome_Project&oldid=966272762<\/p>\r\nWikipedia contributors. (2020, July 12). Leonardo da Vinci. In Wikipedia<\/em>.\u00a0 https:\/\/en.wikipedia.org\/w\/index.php?title=Leonardo_da_Vinci&oldid=967303882<\/p>\r\nWikipedia contributors. (2020, May 19). Vitruvian Man. In Wikipedia. https:\/\/en.wikipedia.org\/w\/index.php?title=Vitruvian_Man&oldid=957472578<\/p>","rendered":"
<\/p>\n![\"\"](\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2019\/06\/Vitruvian_man-2.jpg\")
Figure 5.17.1 A Black and White Copy of Leonardi de Vinci’s Vitruvian Man. <\/em><\/figcaption><\/figure>\n\nVitruvian Man<\/h3>\n<\/div>\n
The drawing in Figure 5.17.1, named Vitruvian Man<\/em><\/a>, was created by Leonardo da Vinci<\/a> in 1490. It was meant to show normal\u00a0human body\u00a0proportions.\u00a0Vitruvian<\/em>\u00a0Man<\/em>\u00a0is used today to represent a different approach to the\u00a0human body. It symbolizes a scientific\u00a0research\u00a0project that began in 1990, exactly 500 years after\u00a0da Vinci created the drawing. That project, called the Human Genome Project, is the largest collaborative biological\u00a0research\u00a0project ever undertaken.<\/p>\n\nWhat Is the Human Genome?<\/h3>\n<\/div>\n
The\u00a0human genome<\/a>\u00a0<\/strong>refers to all the DNA<\/a> of the human species. Human DNA consists of 3.3 billion base pairs, and it is divided into more than 20 thousand genes<\/a> on 23 chromosomes<\/a>. Humans inherit one set of chromosomes from each parent. So there are actually two copies of each of those 20,000 genes. The human genome also includes noncoding sequences of DNA, as shown in Figure 5.17.2.<\/p>\nFigure 5.17.2 Human Genome, Chromosomes, and Genes. Each chromosome of the human genome contains many genes, as well as noncoding intergenic (between genes) regions. Each pair of chromosomes is shown here in a different colour.<\/em><\/figcaption><\/figure>\n\nDiscovering the Human Genome<\/h1>\n<\/div>\n
Scientists now know the sequence of all the\u00a0DNA\u00a0base\u00a0pairs in the entire human genome. This knowledge was attained by the\u00a0Human Genome Project<\/a><\/strong>\u00a0<\/strong>(HGP<\/a>),\u00a0<\/strong>a $3 billion, international scientific\u00a0research\u00a0project that was formally launched in 1990. The project was completed in 2003, two years ahead of its 15-year projected deadline.<\/p>\nDetermining the sequence of the billions of\u00a0base\u00a0pairs that make up human\u00a0DNA<\/a>\u00a0was the main goal of the HGP<\/a>. Another goal was\u00a0to map\u00a0the\u00a0location\u00a0and\u00a0determine\u00a0the function of all the genes in the human genome.\u00a0A\u00a0somewhat surprising finding of the HGP is\u00a0the relatively small number of human genes. There are only about 20,500 genes in human beings. This may sound like a lot, but it’s about the same number as in mice. Another surprising finding of the HGP is the large number of nearly identical, repeated DNA segments in the human genome. This number was previously\u00a0believed\u00a0to be much smaller.<\/p>\nA Collaborative Effort<\/h2>\nFigure 5.17.3 The first printout of the human genome to be presented as a series of books, displayed in the ‘Medicine Now’ room at the Wellcome Collection, London. The 3.4 billion units of DNA code are transcribed into more than a hundred volumes, each a thousand pages long, in type so small as to be barely legible.<\/em><\/figcaption><\/figure>\nFunding for the HGP came from the U.S. Department of\u00a0Energy\u00a0and the National Institutes of Health, as well as from foreign institutions. The actual research was undertaken by scientists in 20 universities in the U.S., United\u00a0Kingdom, Australia, France, Germany, Japan, and China. A private U.S. company named Celera<\/a> also contributed to the effort. Although Celera had hoped to patent some of the genes it discovered, this was later denied. The entire DNA sequence of the genome is stored in databases that are available to anyone on the Internet. Additional data and tools for analyzing the human genome are also available online.<\/p>\nReference Genome of the Human Genome Project<\/h2>\n
In 2003, the HGP published the results of its sequencing of DNA as a human reference genome. The reference genome sequences a full set of\u00a0human chromosomes, but it clearly doesn’t represent the sequence of\u00a0every<\/em> human individual’s genome. Instead, it is the combined mosaic of a small number of anonymous donors. The DNA that was sequenced came from\u00a0blood\u00a0samples of the female donors and\u00a0sperm\u00a0samples of the male donors. All of the donors were of European origin, and more\u00a0than 70 per cent of the reference DNA came from a single anonymous male donor from Buffalo, New York. Identities of all the donors\u00a0were protected so neither they nor the researchers could know whose DNA was sequenced.<\/p>\nSubsequent projects have sequenced the genomes of multiple distinct ethnic groups. Ongoing research is searching base by base for variations in the sequence. However, there is still only one reference genome available.<\/p>\n
Benefits of the Human Genome Project<\/h2>\n
The sequencing of the human genome\u00a0has\u00a0benefits for many fields, including molecular medicine and\u00a0human evolution.<\/p>\n
\n- Knowing the human DNA sequence can help us understand many human diseases. For example, it is helping\u00a0researchers\u00a0identify\u00a0mutations\u00a0linked to different forms of\u00a0cancer<\/a>. It is also yielding insights into the genetic basis of cystic fibrosis, liver diseases, blood-clotting disorders, and Alzheimer’s disease, among others.<\/li>\n
- The human DNA sequence can also help researchers tailor medications to individual genotypes<\/a>. This is called personalized medicine, and it has led to an entirely new field called pharmacogenomics. Pharmacogenomics<\/a>,<\/strong> also called pharmacogenetics, is the study of how our genes affect the way we respond to drugs. You can read more about pharmacogenomics in the Feature section below.<\/li>\n
- The analysis of similarities between DNA sequences from different organisms is opening new avenues in the study of evolution. For example, analyses are expected to shed light on many questions about the similarities and differences between humans and our closest relatives, the nonhuman\u00a0primates.<\/li>\n<\/ul>\n
Ethical, Legal, and Social Issues of the Human Genome Project<\/h2>\n
From its launch in 1990, the HGP proactively established and funded a separate committee to oversee potential ethical, legal, and social issues associated with the project.\u00a0 Some of these possible issues include:<\/p>\n
\n- The possible use of the knowledge generated by the project to discriminate against people. There were worries that that employers and health insurance companies would refuse to hire or insure people based on their genetic makeup, for instance, if they had genes that increased their risk of getting certain diseases.<\/li>\n
- The issues surrounding “ownership” of DNA sequences.\u00a0 There have been requests by the both governmental agencies and private companies for patents of certain sequences of human genes called cDNA, although the US Patent Office has rejected all applications.<\/li>\n
- Education of healthcare professionals, policy makers and the public about the complex issues involved in the HGP and what is done with the information acquired from it.<\/li>\n<\/ul>\n
Feature: Human Biology in the News<\/span><\/p>\nNot everyone responds to medications in the same way. A drug that works well for one person may not be effective\u00a0for\u00a0another. The dose of a drug that cures a disease in one individual may be inadequate for someone else. Some people may experience side effects from a given medication, whereas other people do not. This variation in responses to medications can be due to differences in our genes<\/a>. That’s where the field of pharmacogenetics comes in. News media have hailed it as the “new frontier in medicine.” It certainly seems to hold promise for improving the treatment of patients with pharmaceutical drugs.<\/p>\nPharmacogenomics is based on a special kind of genetic testing. It looks for small genetic variations that influence a person’s ability to activate and deactivate drugs. Results of the tests can help doctors choose the best drug and most effective dose for a given patient. Some of the greatest successes of pharmacogenomics have been in\u00a0cancer\u00a0treatment. Many of the drugs that treat cancer need to be activated by the patient’s own\u00a0enzymes. Inherited variations in enzymes may affect how quickly or efficiently the drugs are activated. For example, if a patient’s enzymes break down a particular drug too slowly, then standard doses of the drug may not work very well for that patient. Drugs also must be deactivated to reduce their effects on healthy\u00a0cells. If a patient’s enzymes deactivate a drug too slowly, then the drug may remain at high levels and cause side effects.<\/p>\n
One of the main benefits of pharmacogenomics is greater patient safety. Pharmacogenomic testing may help identify patients who are likely to experience adverse reactions to drugs, so that different, safer drugs can be prescribed. Another benefit of pharmacogenomics is eliminating the trial-and-error approach that is often used to find appropriate medications and doses for a given patient. This saves time and money, as well as improving patient outcomes.<\/p>\n
Because pharmacogenomics is new, some insurance companies do not cover it, and it can be very expensive. Also, not all of the genetic tests are widely available at this point. In addition, there may be ethical and legal issues associated with the genetic testing, including concerns about privacy issues.<\/p>\n
\n\n5.17 Summary<\/span><\/h1>\n<\/header>\n\n\n- The human genome refers to all of the DNA<\/a> of the human species. It consists of more than 3.3 billion base pairs divided into 20,500 genes <\/a> on 23 pairs of chromosomes<\/a>.<\/li>\n
- The Human Genome Project<\/a> (HGP) was a multi-billion dollar international research project that began in 1990. By 2003, it had sequenced all of the DNA base pairs in the human genome. It also mapped the\u00a0location\u00a0and determined the function of all the genes in the human genome.<\/li>\n
- In 2003, the HGP published the results of its sequence of DNA as a human reference genome. The entire DNA sequence is stored in databases that are available to anyone on the Internet.<\/li>\n
- Sequencing of the human genome is helping researchers better understand\u00a0cancer\u00a0and genetic diseases<\/a>. It is also helping them tailor medications to individual patients, which is the focus of the new field of pharmacogenomics. In addition, it is helping researchers better understand\u00a0human evolution.<\/li>\n
- From its launch in 1990, the HGP established and funded a separate committee to oversee potential ethical, legal, and social issues associated with the project.<\/li>\n<\/ul>\n<\/div>\n<\/div>\n\n\n
\n5.17 Review Questions<\/span><\/h1>\n<\/header>\n\n\n- Describe the human genome.<\/li>\n
- What is the Human Genome Project?<\/li>\n
- Identify two main goals of the Human Genome Project.<\/li>\n
- What is the reference genome of the Human Genome Project? What is it based on?<\/li>\n
- Explain how knowing the sequence of DNA bases in the human genome is beneficial for molecular medicine.<\/li>\n
- What was one surprising finding of the Human Genome Project?<\/li>\n
- Why do you think scientists didn\u2019t just sequence the DNA from a single person for the Human Genome Project? Along those lines, why do you think it is important to include samples from different ethnic groups and genders in genome sequencing efforts?<\/li>\n
- What is pharmacogenomics?<\/li>\n
- If a patient were to have pharmacogenomics done to optimize their medication, what do you think the first step would be?<\/li>\n
- List one advantage and one disadvantage of pharmacogenomics.<\/li>\n
- Explain how the sequencing of the human genome relates to ethical concerns about genetic discrimination.<\/li>\n<\/ol>\n<\/div>\n<\/div>\n\n
\n5.17 Explore More<\/span><\/h1>\n<\/header>\n\n
What Is the Human Genome?<\/h3>\r\n<\/div>\r\nThe\u00a0[pb_glossary id=\"2602\"]human genome[\/pb_glossary]\u00a0<\/strong>refers to all the [pb_glossary id=\"277\"]DNA[\/pb_glossary] of the human species. Human DNA consists of 3.3 billion base pairs, and it is divided into more than 20 thousand [pb_glossary id=\"5521\"]genes[\/pb_glossary] on 23 [pb_glossary id=\"5619\"]chromosomes[\/pb_glossary]. Humans inherit one set of chromosomes from each parent. So there are actually two copies of each of those 20,000 genes. The human genome also includes noncoding sequences of DNA, as shown in Figure 5.17.2.\r\n\r\n[caption id=\"attachment_2603\" align=\"aligncenter\" width=\"500\"] Figure 5.17.2 Human Genome, Chromosomes, and Genes. Each chromosome of the human genome contains many genes, as well as noncoding intergenic (between genes) regions. Each pair of chromosomes is shown here in a different colour.<\/em>[\/caption]\r\n\r\n\r\nDiscovering the Human Genome<\/h1>\r\n<\/div>\r\nScientists now know the sequence of all the\u00a0DNA\u00a0base\u00a0pairs in the entire human genome. This knowledge was attained by the\u00a0[pb_glossary id=\"2604\"]Human Genome Project[\/pb_glossary]<\/strong>\u00a0<\/strong>(HGP<\/a>),\u00a0<\/strong>a $3 billion, international scientific\u00a0research\u00a0project that was formally launched in 1990. The project was completed in 2003, two years ahead of its 15-year projected deadline.\r\n\r\nDetermining the sequence of the billions of\u00a0base\u00a0pairs that make up human\u00a0[pb_glossary id=\"277\"]DNA[\/pb_glossary]\u00a0was the main goal of the HGP<\/a>. Another goal was\u00a0to map\u00a0the\u00a0location\u00a0and\u00a0determine\u00a0the function of all the genes in the human genome.\u00a0A\u00a0somewhat surprising finding of the HGP is\u00a0the relatively small number of human genes. There are only about 20,500 genes in human beings. This may sound like a lot, but it's about the same number as in mice. Another surprising finding of the HGP is the large number of nearly identical, repeated DNA segments in the human genome. This number was previously\u00a0believed\u00a0to be much smaller.\r\nA Collaborative Effort<\/h2>\r\n[caption id=\"attachment_2605\" align=\"alignright\" width=\"335\"] Figure 5.17.3 The first printout of the human genome to be presented as a series of books, displayed in the 'Medicine Now' room at the Wellcome Collection, London. The 3.4 billion units of DNA code are transcribed into more than a hundred volumes, each a thousand pages long, in type so small as to be barely legible.<\/em>[\/caption]\r\n\r\nFunding for the HGP came from the U.S. Department of\u00a0Energy\u00a0and the National Institutes of Health, as well as from foreign institutions. The actual research was undertaken by scientists in 20 universities in the U.S., United\u00a0Kingdom, Australia, France, Germany, Japan, and China. A private U.S. company named Celera<\/a> also contributed to the effort. Although Celera had hoped to patent some of the genes it discovered, this was later denied. The entire DNA sequence of the genome is stored in databases that are available to anyone on the Internet. Additional data and tools for analyzing the human genome are also available online.\r\nReference Genome of the Human Genome Project<\/h2>\r\nIn 2003, the HGP published the results of its sequencing of DNA as a human reference genome. The reference genome sequences a full set of\u00a0human chromosomes, but it clearly doesn't represent the sequence of\u00a0every<\/em> human individual's genome. Instead, it is the combined mosaic of a small number of anonymous donors. The DNA that was sequenced came from\u00a0blood\u00a0samples of the female donors and\u00a0sperm\u00a0samples of the male donors. All of the donors were of European origin, and more\u00a0than 70 per cent of the reference DNA came from a single anonymous male donor from Buffalo, New York. Identities of all the donors\u00a0were protected so neither they nor the researchers could know whose DNA was sequenced.\r\n\r\nSubsequent projects have sequenced the genomes of multiple distinct ethnic groups. Ongoing research is searching base by base for variations in the sequence. However, there is still only one reference genome available.\r\nBenefits of the Human Genome Project<\/h2>\r\nThe sequencing of the human genome\u00a0has\u00a0benefits for many fields, including molecular medicine and\u00a0human evolution.\r\n\r\n \t- Knowing the human DNA sequence can help us understand many human diseases. For example, it is helping\u00a0researchers\u00a0identify\u00a0mutations\u00a0linked to different forms of\u00a0[pb_glossary id=\"5605\"]cancer[\/pb_glossary]. It is also yielding insights into the genetic basis of cystic fibrosis, liver diseases, blood-clotting disorders, and Alzheimer's disease, among others.<\/li>\r\n \t
- The human DNA sequence can also help researchers tailor medications to individual [pb_glossary id=\"6039\"]genotypes[\/pb_glossary]. This is called personalized medicine, and it has led to an entirely new field called pharmacogenomics. [pb_glossary id=\"5487\"]Pharmacogenomics[\/pb_glossary],<\/strong> also called pharmacogenetics, is the study of how our genes affect the way we respond to drugs. You can read more about pharmacogenomics in the Feature section below.<\/li>\r\n \t
- The analysis of similarities between DNA sequences from different organisms is opening new avenues in the study of evolution. For example, analyses are expected to shed light on many questions about the similarities and differences between humans and our closest relatives, the nonhuman\u00a0primates.<\/li>\r\n<\/ul>\r\n
Ethical, Legal, and Social Issues of the Human Genome Project<\/h2>\r\nFrom its launch in 1990, the HGP proactively established and funded a separate committee to oversee potential ethical, legal, and social issues associated with the project.\u00a0 Some of these possible issues include:\r\n\r\n \t- The possible use of the knowledge generated by the project to discriminate against people. There were worries that that employers and health insurance companies would refuse to hire or insure people based on their genetic makeup, for instance, if they had genes that increased their risk of getting certain diseases.<\/li>\r\n \t
- The issues surrounding \"ownership\" of DNA sequences.\u00a0 There have been requests by the both governmental agencies and private companies for patents of certain sequences of human genes called cDNA, although the US Patent Office has rejected all applications.<\/li>\r\n \t
- Education of healthcare professionals, policy makers and the public about the complex issues involved in the HGP and what is done with the information acquired from it.<\/li>\r\n<\/ul>\r\nFeature: Human Biology in the News<\/span>\r\n\r\nNot everyone responds to medications in the same way. A drug that works well for one person may not be effective\u00a0for\u00a0another. The dose of a drug that cures a disease in one individual may be inadequate for someone else. Some people may experience side effects from a given medication, whereas other people do not. This variation in responses to medications can be due to differences in our [pb_glossary id=\"5521\"]genes[\/pb_glossary]. That's where the field of pharmacogenetics comes in. News media have hailed it as the \"new frontier in medicine.\" It certainly seems to hold promise for improving the treatment of patients with pharmaceutical drugs.\r\n\r\nPharmacogenomics is based on a special kind of genetic testing. It looks for small genetic variations that influence a person's ability to activate and deactivate drugs. Results of the tests can help doctors choose the best drug and most effective dose for a given patient. Some of the greatest successes of pharmacogenomics have been in\u00a0cancer\u00a0treatment. Many of the drugs that treat cancer need to be activated by the patient's own\u00a0enzymes. Inherited variations in enzymes may affect how quickly or efficiently the drugs are activated. For example, if a patient's enzymes break down a particular drug too slowly, then standard doses of the drug may not work very well for that patient. Drugs also must be deactivated to reduce their effects on healthy\u00a0cells. If a patient's enzymes deactivate a drug too slowly, then the drug may remain at high levels and cause side effects.\r\n\r\nOne of the main benefits of pharmacogenomics is greater patient safety. Pharmacogenomic testing may help identify patients who are likely to experience adverse reactions to drugs, so that different, safer drugs can be prescribed. Another benefit of pharmacogenomics is eliminating the trial-and-error approach that is often used to find appropriate medications and doses for a given patient. This saves time and money, as well as improving patient outcomes.\r\n\r\nBecause pharmacogenomics is new, some insurance companies do not cover it, and it can be very expensive. Also, not all of the genetic tests are widely available at this point. In addition, there may be ethical and legal issues associated with the genetic testing, including concerns about privacy issues.\r\n
\r\n5.17 Summary<\/span><\/h1>\r\n<\/header>\r\n\r\n\r\n \t- The human genome refers to all of the [pb_glossary id=\"277\"]DNA[\/pb_glossary] of the human species. It consists of more than 3.3 billion base pairs divided into 20,500 [pb_glossary id=\"5521\"]genes [\/pb_glossary] on 23 pairs of [pb_glossary id=\"5619\"]chromosomes[\/pb_glossary].<\/li>\r\n \t
- The [pb_glossary id=\"2604\"]Human Genome Project[\/pb_glossary] (HGP) was a multi-billion dollar international research project that began in 1990. By 2003, it had sequenced all of the DNA base pairs in the human genome. It also mapped the\u00a0location\u00a0and determined the function of all the genes in the human genome.<\/li>\r\n \t
- In 2003, the HGP published the results of its sequence of DNA as a human reference genome. The entire DNA sequence is stored in databases that are available to anyone on the Internet.<\/li>\r\n \t
- Sequencing of the human genome is helping researchers better understand\u00a0cancer\u00a0and [pb_glossary id=\"2562\"]genetic diseases[\/pb_glossary]. It is also helping them tailor medications to individual patients, which is the focus of the new field of pharmacogenomics. In addition, it is helping researchers better understand\u00a0human evolution.<\/li>\r\n \t
- From its launch in 1990, the HGP established and funded a separate committee to oversee potential ethical, legal, and social issues associated with the project.<\/li>\r\n<\/ul>\r\n<\/div>\r\n<\/div>\r\n\r\n
\r\n5.17 Review Questions<\/span><\/h1>\r\n<\/header>\r\n\r\n\r\n \t- Describe the human genome.<\/li>\r\n \t
- What is the Human Genome Project?<\/li>\r\n \t
- Identify two main goals of the Human Genome Project.<\/li>\r\n \t
- What is the reference genome of the Human Genome Project? What is it based on?<\/li>\r\n \t
- Explain how knowing the sequence of DNA bases in the human genome is beneficial for molecular medicine.<\/li>\r\n \t
- What was one surprising finding of the Human Genome Project?<\/li>\r\n \t
- Why do you think scientists didn\u2019t just sequence the DNA from a single person for the Human Genome Project? Along those lines, why do you think it is important to include samples from different ethnic groups and genders in genome sequencing efforts?<\/li>\r\n \t
- What is pharmacogenomics?<\/li>\r\n \t
- If a patient were to have pharmacogenomics done to optimize their medication, what do you think the first step would be?<\/li>\r\n \t
- List one advantage and one disadvantage of pharmacogenomics.<\/li>\r\n \t
- Explain how the sequencing of the human genome relates to ethical concerns about genetic discrimination.<\/li>\r\n<\/ol>\r\n<\/div>\r\n<\/div>\r\n
\r\n5.17 Explore More<\/span><\/h1>\r\n<\/header>\r\n\r\n\r\nhttps:\/\/www.youtube.com\/watch?v=AhsIF-cmoQQ\r\nThe race to sequence the human genome - Tien Nguyen, TED-Ed, 2015.<\/p>\r\n \r\n\r\nhttps:\/\/www.youtube.com\/watch?v=s6rJLXq1Re0\r\n
How to read the genome and build a human being | Riccardo Sabatini, TED, 2016.<\/p>\r\n \r\n\r\nhttps:\/\/www.youtube.com\/watch?v=J2ITkfzp0SY\r\n
Personalized Medicine: A New Approach | Luigi Boccuto | TEDxGreenville,\r\nTEDx Talks, 2017.<\/p>\r\n \r\n\r\n<\/div>\r\n<\/div>\r\nAttributions<\/span>\r\n\r\n<\/div>\r\nFigure 5.17.1<\/strong>\r\n\r\nVitruvian_man (black and white copy)<\/a> by Leonardo Da Vinci,<\/a> 1490, by Ianbond<\/a> on Wikimedia Commons is released into the public domain<\/a> (https:\/\/en.wikipedia.org\/wiki\/Public_domain).\r\n\r\nFigure 5.17.2<\/strong>\r\n\r\nHuman Genome<\/a>\u00a0by CK-12 Foundation<\/a>\u00a0 is used under a\u00a0CC BY-NC 3.0<\/a>\u00a0 (https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/) license.\r\n\r\n \u00a9<\/span>CK-12 Foundation<\/a> Licensed under\u00a0<\/span><\/a>\u00a0\u2022\u00a0<\/span>Terms of Use<\/a>\u00a0\u2022\u00a0<\/span>Attribution<\/a>\r\n\r\nFigure 5.17.3<\/strong>\r\n\r\nHuman genome_bookcase<\/a> by Russ London<\/a> at English Wikipedia is used under a CC BY-SA 3.0<\/a>\u00a0(https:\/\/creativecommons.org\/licenses\/by-sa\/3.0\/deed.en) license.\r\nReferences<\/h2>\r\n
Brainard, J\/ CK-12 Foundation. (2016). Figure 2 Human genome, chromosomes, and genes. [digital image]. In CK-12 College Human Biology<\/em> (Section 5.16) [online Flexbook]. CK12.org. https:\/\/www.ck12.org\/book\/ck-12-college-human-biology\/section\/5.16\/<\/p>\r\nNational Human Genome Research Institute (NHGRI). (n.d.). The Human Genome Project (HGP). National Institute of Health (NIH) \/US Government. https:\/\/www.genome.gov\/human-genome-project<\/p>\r\n
TED. (2016, May 24). How to read the genome and build a human being | Riccardo Sabatini. YouTube. https:\/\/www.youtube.com\/watch?v=s6rJLXq1Re0&t=2s<\/p>\r\n
TED-Ed. (2015, October 12). The race to sequence the human genome - Tien Nguyen. YouTube. https:\/\/www.youtube.com\/watch?v=AhsIF-cmoQQ&t=7s<\/p>\r\n
TEDx Talks. (2017, June 8). Personalized medicine: A new approach | Luigi Boccuto | TEDxGreenville. https:\/\/www.youtube.com\/watch?v=J2ITkfzp0SY&t=4s<\/p>\r\n
Wikipedia contributors. (2020, April 18). Celera Corporation. In Wikipedia<\/em>.\u00a0 https:\/\/en.wikipedia.org\/w\/index.php?title=Celera_Corporation&oldid=951693886<\/p>\r\nWikipedia contributors. (2020, July 6). Human Genome Project. In Wikipedia<\/em>. https:\/\/en.wikipedia.org\/w\/index.php?title=Human_Genome_Project&oldid=966272762<\/p>\r\nWikipedia contributors. (2020, July 12). Leonardo da Vinci. In Wikipedia<\/em>.\u00a0 https:\/\/en.wikipedia.org\/w\/index.php?title=Leonardo_da_Vinci&oldid=967303882<\/p>\r\nWikipedia contributors. (2020, May 19). Vitruvian Man. In Wikipedia. https:\/\/en.wikipedia.org\/w\/index.php?title=Vitruvian_Man&oldid=957472578<\/p>","rendered":"
<\/p>\nFigure 5.17.1 A Black and White Copy of Leonardi de Vinci’s Vitruvian Man. <\/em><\/figcaption><\/figure>\n\nVitruvian Man<\/h3>\n<\/div>\n
The drawing in Figure 5.17.1, named Vitruvian Man<\/em><\/a>, was created by Leonardo da Vinci<\/a> in 1490. It was meant to show normal\u00a0human body\u00a0proportions.\u00a0Vitruvian<\/em>\u00a0Man<\/em>\u00a0is used today to represent a different approach to the\u00a0human body. It symbolizes a scientific\u00a0research\u00a0project that began in 1990, exactly 500 years after\u00a0da Vinci created the drawing. That project, called the Human Genome Project, is the largest collaborative biological\u00a0research\u00a0project ever undertaken.<\/p>\n\nWhat Is the Human Genome?<\/h3>\n<\/div>\n
The\u00a0human genome<\/a>\u00a0<\/strong>refers to all the DNA<\/a> of the human species. Human DNA consists of 3.3 billion base pairs, and it is divided into more than 20 thousand genes<\/a> on 23 chromosomes<\/a>. Humans inherit one set of chromosomes from each parent. So there are actually two copies of each of those 20,000 genes. The human genome also includes noncoding sequences of DNA, as shown in Figure 5.17.2.<\/p>\nFigure 5.17.2 Human Genome, Chromosomes, and Genes. Each chromosome of the human genome contains many genes, as well as noncoding intergenic (between genes) regions. Each pair of chromosomes is shown here in a different colour.<\/em><\/figcaption><\/figure>\n\nDiscovering the Human Genome<\/h1>\n<\/div>\n
Scientists now know the sequence of all the\u00a0DNA\u00a0base\u00a0pairs in the entire human genome. This knowledge was attained by the\u00a0Human Genome Project<\/a><\/strong>\u00a0<\/strong>(HGP<\/a>),\u00a0<\/strong>a $3 billion, international scientific\u00a0research\u00a0project that was formally launched in 1990. The project was completed in 2003, two years ahead of its 15-year projected deadline.<\/p>\nDetermining the sequence of the billions of\u00a0base\u00a0pairs that make up human\u00a0DNA<\/a>\u00a0was the main goal of the HGP<\/a>. Another goal was\u00a0to map\u00a0the\u00a0location\u00a0and\u00a0determine\u00a0the function of all the genes in the human genome.\u00a0A\u00a0somewhat surprising finding of the HGP is\u00a0the relatively small number of human genes. There are only about 20,500 genes in human beings. This may sound like a lot, but it’s about the same number as in mice. Another surprising finding of the HGP is the large number of nearly identical, repeated DNA segments in the human genome. This number was previously\u00a0believed\u00a0to be much smaller.<\/p>\nA Collaborative Effort<\/h2>\nFigure 5.17.3 The first printout of the human genome to be presented as a series of books, displayed in the ‘Medicine Now’ room at the Wellcome Collection, London. The 3.4 billion units of DNA code are transcribed into more than a hundred volumes, each a thousand pages long, in type so small as to be barely legible.<\/em><\/figcaption><\/figure>\nFunding for the HGP came from the U.S. Department of\u00a0Energy\u00a0and the National Institutes of Health, as well as from foreign institutions. The actual research was undertaken by scientists in 20 universities in the U.S., United\u00a0Kingdom, Australia, France, Germany, Japan, and China. A private U.S. company named Celera<\/a> also contributed to the effort. Although Celera had hoped to patent some of the genes it discovered, this was later denied. The entire DNA sequence of the genome is stored in databases that are available to anyone on the Internet. Additional data and tools for analyzing the human genome are also available online.<\/p>\nReference Genome of the Human Genome Project<\/h2>\n
In 2003, the HGP published the results of its sequencing of DNA as a human reference genome. The reference genome sequences a full set of\u00a0human chromosomes, but it clearly doesn’t represent the sequence of\u00a0every<\/em> human individual’s genome. Instead, it is the combined mosaic of a small number of anonymous donors. The DNA that was sequenced came from\u00a0blood\u00a0samples of the female donors and\u00a0sperm\u00a0samples of the male donors. All of the donors were of European origin, and more\u00a0than 70 per cent of the reference DNA came from a single anonymous male donor from Buffalo, New York. Identities of all the donors\u00a0were protected so neither they nor the researchers could know whose DNA was sequenced.<\/p>\nSubsequent projects have sequenced the genomes of multiple distinct ethnic groups. Ongoing research is searching base by base for variations in the sequence. However, there is still only one reference genome available.<\/p>\n
Benefits of the Human Genome Project<\/h2>\n
The sequencing of the human genome\u00a0has\u00a0benefits for many fields, including molecular medicine and\u00a0human evolution.<\/p>\n
\n- Knowing the human DNA sequence can help us understand many human diseases. For example, it is helping\u00a0researchers\u00a0identify\u00a0mutations\u00a0linked to different forms of\u00a0cancer<\/a>. It is also yielding insights into the genetic basis of cystic fibrosis, liver diseases, blood-clotting disorders, and Alzheimer’s disease, among others.<\/li>\n
- The human DNA sequence can also help researchers tailor medications to individual genotypes<\/a>. This is called personalized medicine, and it has led to an entirely new field called pharmacogenomics. Pharmacogenomics<\/a>,<\/strong> also called pharmacogenetics, is the study of how our genes affect the way we respond to drugs. You can read more about pharmacogenomics in the Feature section below.<\/li>\n
- The analysis of similarities between DNA sequences from different organisms is opening new avenues in the study of evolution. For example, analyses are expected to shed light on many questions about the similarities and differences between humans and our closest relatives, the nonhuman\u00a0primates.<\/li>\n<\/ul>\n
Ethical, Legal, and Social Issues of the Human Genome Project<\/h2>\n
From its launch in 1990, the HGP proactively established and funded a separate committee to oversee potential ethical, legal, and social issues associated with the project.\u00a0 Some of these possible issues include:<\/p>\n
\n- The possible use of the knowledge generated by the project to discriminate against people. There were worries that that employers and health insurance companies would refuse to hire or insure people based on their genetic makeup, for instance, if they had genes that increased their risk of getting certain diseases.<\/li>\n
- The issues surrounding “ownership” of DNA sequences.\u00a0 There have been requests by the both governmental agencies and private companies for patents of certain sequences of human genes called cDNA, although the US Patent Office has rejected all applications.<\/li>\n
- Education of healthcare professionals, policy makers and the public about the complex issues involved in the HGP and what is done with the information acquired from it.<\/li>\n<\/ul>\n
Feature: Human Biology in the News<\/span><\/p>\nNot everyone responds to medications in the same way. A drug that works well for one person may not be effective\u00a0for\u00a0another. The dose of a drug that cures a disease in one individual may be inadequate for someone else. Some people may experience side effects from a given medication, whereas other people do not. This variation in responses to medications can be due to differences in our genes<\/a>. That’s where the field of pharmacogenetics comes in. News media have hailed it as the “new frontier in medicine.” It certainly seems to hold promise for improving the treatment of patients with pharmaceutical drugs.<\/p>\nPharmacogenomics is based on a special kind of genetic testing. It looks for small genetic variations that influence a person’s ability to activate and deactivate drugs. Results of the tests can help doctors choose the best drug and most effective dose for a given patient. Some of the greatest successes of pharmacogenomics have been in\u00a0cancer\u00a0treatment. Many of the drugs that treat cancer need to be activated by the patient’s own\u00a0enzymes. Inherited variations in enzymes may affect how quickly or efficiently the drugs are activated. For example, if a patient’s enzymes break down a particular drug too slowly, then standard doses of the drug may not work very well for that patient. Drugs also must be deactivated to reduce their effects on healthy\u00a0cells. If a patient’s enzymes deactivate a drug too slowly, then the drug may remain at high levels and cause side effects.<\/p>\n
One of the main benefits of pharmacogenomics is greater patient safety. Pharmacogenomic testing may help identify patients who are likely to experience adverse reactions to drugs, so that different, safer drugs can be prescribed. Another benefit of pharmacogenomics is eliminating the trial-and-error approach that is often used to find appropriate medications and doses for a given patient. This saves time and money, as well as improving patient outcomes.<\/p>\n
Because pharmacogenomics is new, some insurance companies do not cover it, and it can be very expensive. Also, not all of the genetic tests are widely available at this point. In addition, there may be ethical and legal issues associated with the genetic testing, including concerns about privacy issues.<\/p>\n
\n\n5.17 Summary<\/span><\/h1>\n<\/header>\n\n\n- The human genome refers to all of the DNA<\/a> of the human species. It consists of more than 3.3 billion base pairs divided into 20,500 genes <\/a> on 23 pairs of chromosomes<\/a>.<\/li>\n
- The Human Genome Project<\/a> (HGP) was a multi-billion dollar international research project that began in 1990. By 2003, it had sequenced all of the DNA base pairs in the human genome. It also mapped the\u00a0location\u00a0and determined the function of all the genes in the human genome.<\/li>\n
- In 2003, the HGP published the results of its sequence of DNA as a human reference genome. The entire DNA sequence is stored in databases that are available to anyone on the Internet.<\/li>\n
- Sequencing of the human genome is helping researchers better understand\u00a0cancer\u00a0and genetic diseases<\/a>. It is also helping them tailor medications to individual patients, which is the focus of the new field of pharmacogenomics. In addition, it is helping researchers better understand\u00a0human evolution.<\/li>\n
- From its launch in 1990, the HGP established and funded a separate committee to oversee potential ethical, legal, and social issues associated with the project.<\/li>\n<\/ul>\n<\/div>\n<\/div>\n\n\n
\n5.17 Review Questions<\/span><\/h1>\n<\/header>\n\n\n- Describe the human genome.<\/li>\n
- What is the Human Genome Project?<\/li>\n
- Identify two main goals of the Human Genome Project.<\/li>\n
- What is the reference genome of the Human Genome Project? What is it based on?<\/li>\n
- Explain how knowing the sequence of DNA bases in the human genome is beneficial for molecular medicine.<\/li>\n
- What was one surprising finding of the Human Genome Project?<\/li>\n
- Why do you think scientists didn\u2019t just sequence the DNA from a single person for the Human Genome Project? Along those lines, why do you think it is important to include samples from different ethnic groups and genders in genome sequencing efforts?<\/li>\n
- What is pharmacogenomics?<\/li>\n
- If a patient were to have pharmacogenomics done to optimize their medication, what do you think the first step would be?<\/li>\n
- List one advantage and one disadvantage of pharmacogenomics.<\/li>\n
- Explain how the sequencing of the human genome relates to ethical concerns about genetic discrimination.<\/li>\n<\/ol>\n<\/div>\n<\/div>\n\n
\n5.17 Explore More<\/span><\/h1>\n<\/header>\n\n
Discovering the Human Genome<\/h1>\r\n<\/div>\r\nScientists now know the sequence of all the\u00a0DNA\u00a0base\u00a0pairs in the entire human genome. This knowledge was attained by the\u00a0[pb_glossary id=\"2604\"]Human Genome Project[\/pb_glossary]<\/strong>\u00a0<\/strong>(HGP<\/a>),\u00a0<\/strong>a $3 billion, international scientific\u00a0research\u00a0project that was formally launched in 1990. The project was completed in 2003, two years ahead of its 15-year projected deadline.\r\n\r\nDetermining the sequence of the billions of\u00a0base\u00a0pairs that make up human\u00a0[pb_glossary id=\"277\"]DNA[\/pb_glossary]\u00a0was the main goal of the HGP<\/a>. Another goal was\u00a0to map\u00a0the\u00a0location\u00a0and\u00a0determine\u00a0the function of all the genes in the human genome.\u00a0A\u00a0somewhat surprising finding of the HGP is\u00a0the relatively small number of human genes. There are only about 20,500 genes in human beings. This may sound like a lot, but it's about the same number as in mice. Another surprising finding of the HGP is the large number of nearly identical, repeated DNA segments in the human genome. This number was previously\u00a0believed\u00a0to be much smaller.\r\nA Collaborative Effort<\/h2>\r\n[caption id=\"attachment_2605\" align=\"alignright\" width=\"335\"] Figure 5.17.3 The first printout of the human genome to be presented as a series of books, displayed in the 'Medicine Now' room at the Wellcome Collection, London. The 3.4 billion units of DNA code are transcribed into more than a hundred volumes, each a thousand pages long, in type so small as to be barely legible.<\/em>[\/caption]\r\n\r\nFunding for the HGP came from the U.S. Department of\u00a0Energy\u00a0and the National Institutes of Health, as well as from foreign institutions. The actual research was undertaken by scientists in 20 universities in the U.S., United\u00a0Kingdom, Australia, France, Germany, Japan, and China. A private U.S. company named Celera<\/a> also contributed to the effort. Although Celera had hoped to patent some of the genes it discovered, this was later denied. The entire DNA sequence of the genome is stored in databases that are available to anyone on the Internet. Additional data and tools for analyzing the human genome are also available online.\r\nReference Genome of the Human Genome Project<\/h2>\r\nIn 2003, the HGP published the results of its sequencing of DNA as a human reference genome. The reference genome sequences a full set of\u00a0human chromosomes, but it clearly doesn't represent the sequence of\u00a0every<\/em> human individual's genome. Instead, it is the combined mosaic of a small number of anonymous donors. The DNA that was sequenced came from\u00a0blood\u00a0samples of the female donors and\u00a0sperm\u00a0samples of the male donors. All of the donors were of European origin, and more\u00a0than 70 per cent of the reference DNA came from a single anonymous male donor from Buffalo, New York. Identities of all the donors\u00a0were protected so neither they nor the researchers could know whose DNA was sequenced.\r\n\r\nSubsequent projects have sequenced the genomes of multiple distinct ethnic groups. Ongoing research is searching base by base for variations in the sequence. However, there is still only one reference genome available.\r\nBenefits of the Human Genome Project<\/h2>\r\nThe sequencing of the human genome\u00a0has\u00a0benefits for many fields, including molecular medicine and\u00a0human evolution.\r\n\r\n \t- Knowing the human DNA sequence can help us understand many human diseases. For example, it is helping\u00a0researchers\u00a0identify\u00a0mutations\u00a0linked to different forms of\u00a0[pb_glossary id=\"5605\"]cancer[\/pb_glossary]. It is also yielding insights into the genetic basis of cystic fibrosis, liver diseases, blood-clotting disorders, and Alzheimer's disease, among others.<\/li>\r\n \t
- The human DNA sequence can also help researchers tailor medications to individual [pb_glossary id=\"6039\"]genotypes[\/pb_glossary]. This is called personalized medicine, and it has led to an entirely new field called pharmacogenomics. [pb_glossary id=\"5487\"]Pharmacogenomics[\/pb_glossary],<\/strong> also called pharmacogenetics, is the study of how our genes affect the way we respond to drugs. You can read more about pharmacogenomics in the Feature section below.<\/li>\r\n \t
- The analysis of similarities between DNA sequences from different organisms is opening new avenues in the study of evolution. For example, analyses are expected to shed light on many questions about the similarities and differences between humans and our closest relatives, the nonhuman\u00a0primates.<\/li>\r\n<\/ul>\r\n
Ethical, Legal, and Social Issues of the Human Genome Project<\/h2>\r\nFrom its launch in 1990, the HGP proactively established and funded a separate committee to oversee potential ethical, legal, and social issues associated with the project.\u00a0 Some of these possible issues include:\r\n\r\n \t- The possible use of the knowledge generated by the project to discriminate against people. There were worries that that employers and health insurance companies would refuse to hire or insure people based on their genetic makeup, for instance, if they had genes that increased their risk of getting certain diseases.<\/li>\r\n \t
- The issues surrounding \"ownership\" of DNA sequences.\u00a0 There have been requests by the both governmental agencies and private companies for patents of certain sequences of human genes called cDNA, although the US Patent Office has rejected all applications.<\/li>\r\n \t
- Education of healthcare professionals, policy makers and the public about the complex issues involved in the HGP and what is done with the information acquired from it.<\/li>\r\n<\/ul>\r\nFeature: Human Biology in the News<\/span>\r\n\r\nNot everyone responds to medications in the same way. A drug that works well for one person may not be effective\u00a0for\u00a0another. The dose of a drug that cures a disease in one individual may be inadequate for someone else. Some people may experience side effects from a given medication, whereas other people do not. This variation in responses to medications can be due to differences in our [pb_glossary id=\"5521\"]genes[\/pb_glossary]. That's where the field of pharmacogenetics comes in. News media have hailed it as the \"new frontier in medicine.\" It certainly seems to hold promise for improving the treatment of patients with pharmaceutical drugs.\r\n\r\nPharmacogenomics is based on a special kind of genetic testing. It looks for small genetic variations that influence a person's ability to activate and deactivate drugs. Results of the tests can help doctors choose the best drug and most effective dose for a given patient. Some of the greatest successes of pharmacogenomics have been in\u00a0cancer\u00a0treatment. Many of the drugs that treat cancer need to be activated by the patient's own\u00a0enzymes. Inherited variations in enzymes may affect how quickly or efficiently the drugs are activated. For example, if a patient's enzymes break down a particular drug too slowly, then standard doses of the drug may not work very well for that patient. Drugs also must be deactivated to reduce their effects on healthy\u00a0cells. If a patient's enzymes deactivate a drug too slowly, then the drug may remain at high levels and cause side effects.\r\n\r\nOne of the main benefits of pharmacogenomics is greater patient safety. Pharmacogenomic testing may help identify patients who are likely to experience adverse reactions to drugs, so that different, safer drugs can be prescribed. Another benefit of pharmacogenomics is eliminating the trial-and-error approach that is often used to find appropriate medications and doses for a given patient. This saves time and money, as well as improving patient outcomes.\r\n\r\nBecause pharmacogenomics is new, some insurance companies do not cover it, and it can be very expensive. Also, not all of the genetic tests are widely available at this point. In addition, there may be ethical and legal issues associated with the genetic testing, including concerns about privacy issues.\r\n
\r\n5.17 Summary<\/span><\/h1>\r\n<\/header>\r\n\r\n\r\n \t- The human genome refers to all of the [pb_glossary id=\"277\"]DNA[\/pb_glossary] of the human species. It consists of more than 3.3 billion base pairs divided into 20,500 [pb_glossary id=\"5521\"]genes [\/pb_glossary] on 23 pairs of [pb_glossary id=\"5619\"]chromosomes[\/pb_glossary].<\/li>\r\n \t
- The [pb_glossary id=\"2604\"]Human Genome Project[\/pb_glossary] (HGP) was a multi-billion dollar international research project that began in 1990. By 2003, it had sequenced all of the DNA base pairs in the human genome. It also mapped the\u00a0location\u00a0and determined the function of all the genes in the human genome.<\/li>\r\n \t
- In 2003, the HGP published the results of its sequence of DNA as a human reference genome. The entire DNA sequence is stored in databases that are available to anyone on the Internet.<\/li>\r\n \t
- Sequencing of the human genome is helping researchers better understand\u00a0cancer\u00a0and [pb_glossary id=\"2562\"]genetic diseases[\/pb_glossary]. It is also helping them tailor medications to individual patients, which is the focus of the new field of pharmacogenomics. In addition, it is helping researchers better understand\u00a0human evolution.<\/li>\r\n \t
- From its launch in 1990, the HGP established and funded a separate committee to oversee potential ethical, legal, and social issues associated with the project.<\/li>\r\n<\/ul>\r\n<\/div>\r\n<\/div>\r\n\r\n
\r\n5.17 Review Questions<\/span><\/h1>\r\n<\/header>\r\n\r\n\r\n \t- Describe the human genome.<\/li>\r\n \t
- What is the Human Genome Project?<\/li>\r\n \t
- Identify two main goals of the Human Genome Project.<\/li>\r\n \t
- What is the reference genome of the Human Genome Project? What is it based on?<\/li>\r\n \t
- Explain how knowing the sequence of DNA bases in the human genome is beneficial for molecular medicine.<\/li>\r\n \t
- What was one surprising finding of the Human Genome Project?<\/li>\r\n \t
- Why do you think scientists didn\u2019t just sequence the DNA from a single person for the Human Genome Project? Along those lines, why do you think it is important to include samples from different ethnic groups and genders in genome sequencing efforts?<\/li>\r\n \t
- What is pharmacogenomics?<\/li>\r\n \t
- If a patient were to have pharmacogenomics done to optimize their medication, what do you think the first step would be?<\/li>\r\n \t
- List one advantage and one disadvantage of pharmacogenomics.<\/li>\r\n \t
- Explain how the sequencing of the human genome relates to ethical concerns about genetic discrimination.<\/li>\r\n<\/ol>\r\n<\/div>\r\n<\/div>\r\n
\r\n5.17 Explore More<\/span><\/h1>\r\n<\/header>\r\n\r\n\r\nhttps:\/\/www.youtube.com\/watch?v=AhsIF-cmoQQ\r\nThe race to sequence the human genome - Tien Nguyen, TED-Ed, 2015.<\/p>\r\n \r\n\r\nhttps:\/\/www.youtube.com\/watch?v=s6rJLXq1Re0\r\n
How to read the genome and build a human being | Riccardo Sabatini, TED, 2016.<\/p>\r\n \r\n\r\nhttps:\/\/www.youtube.com\/watch?v=J2ITkfzp0SY\r\n
Personalized Medicine: A New Approach | Luigi Boccuto | TEDxGreenville,\r\nTEDx Talks, 2017.<\/p>\r\n \r\n\r\n<\/div>\r\n<\/div>\r\nAttributions<\/span>\r\n\r\n<\/div>\r\nFigure 5.17.1<\/strong>\r\n\r\nVitruvian_man (black and white copy)<\/a> by Leonardo Da Vinci,<\/a> 1490, by Ianbond<\/a> on Wikimedia Commons is released into the public domain<\/a> (https:\/\/en.wikipedia.org\/wiki\/Public_domain).\r\n\r\nFigure 5.17.2<\/strong>\r\n\r\nHuman Genome<\/a>\u00a0by CK-12 Foundation<\/a>\u00a0 is used under a\u00a0CC BY-NC 3.0<\/a>\u00a0 (https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/) license.\r\n\r\n \u00a9<\/span>CK-12 Foundation<\/a> Licensed under\u00a0<\/span><\/a>\u00a0\u2022\u00a0<\/span>Terms of Use<\/a>\u00a0\u2022\u00a0<\/span>Attribution<\/a>\r\n\r\nFigure 5.17.3<\/strong>\r\n\r\nHuman genome_bookcase<\/a> by Russ London<\/a> at English Wikipedia is used under a CC BY-SA 3.0<\/a>\u00a0(https:\/\/creativecommons.org\/licenses\/by-sa\/3.0\/deed.en) license.\r\nReferences<\/h2>\r\n
Brainard, J\/ CK-12 Foundation. (2016). Figure 2 Human genome, chromosomes, and genes. [digital image]. In CK-12 College Human Biology<\/em> (Section 5.16) [online Flexbook]. CK12.org. https:\/\/www.ck12.org\/book\/ck-12-college-human-biology\/section\/5.16\/<\/p>\r\nNational Human Genome Research Institute (NHGRI). (n.d.). The Human Genome Project (HGP). National Institute of Health (NIH) \/US Government. https:\/\/www.genome.gov\/human-genome-project<\/p>\r\n
TED. (2016, May 24). How to read the genome and build a human being | Riccardo Sabatini. YouTube. https:\/\/www.youtube.com\/watch?v=s6rJLXq1Re0&t=2s<\/p>\r\n
TED-Ed. (2015, October 12). The race to sequence the human genome - Tien Nguyen. YouTube. https:\/\/www.youtube.com\/watch?v=AhsIF-cmoQQ&t=7s<\/p>\r\n
TEDx Talks. (2017, June 8). Personalized medicine: A new approach | Luigi Boccuto | TEDxGreenville. https:\/\/www.youtube.com\/watch?v=J2ITkfzp0SY&t=4s<\/p>\r\n
Wikipedia contributors. (2020, April 18). Celera Corporation. In Wikipedia<\/em>.\u00a0 https:\/\/en.wikipedia.org\/w\/index.php?title=Celera_Corporation&oldid=951693886<\/p>\r\nWikipedia contributors. (2020, July 6). Human Genome Project. In Wikipedia<\/em>. https:\/\/en.wikipedia.org\/w\/index.php?title=Human_Genome_Project&oldid=966272762<\/p>\r\nWikipedia contributors. (2020, July 12). Leonardo da Vinci. In Wikipedia<\/em>.\u00a0 https:\/\/en.wikipedia.org\/w\/index.php?title=Leonardo_da_Vinci&oldid=967303882<\/p>\r\nWikipedia contributors. (2020, May 19). Vitruvian Man. In Wikipedia. https:\/\/en.wikipedia.org\/w\/index.php?title=Vitruvian_Man&oldid=957472578<\/p>","rendered":"
<\/p>\nFigure 5.17.1 A Black and White Copy of Leonardi de Vinci’s Vitruvian Man. <\/em><\/figcaption><\/figure>\n\nVitruvian Man<\/h3>\n<\/div>\n
The drawing in Figure 5.17.1, named Vitruvian Man<\/em><\/a>, was created by Leonardo da Vinci<\/a> in 1490. It was meant to show normal\u00a0human body\u00a0proportions.\u00a0Vitruvian<\/em>\u00a0Man<\/em>\u00a0is used today to represent a different approach to the\u00a0human body. It symbolizes a scientific\u00a0research\u00a0project that began in 1990, exactly 500 years after\u00a0da Vinci created the drawing. That project, called the Human Genome Project, is the largest collaborative biological\u00a0research\u00a0project ever undertaken.<\/p>\n\nWhat Is the Human Genome?<\/h3>\n<\/div>\n
The\u00a0human genome<\/a>\u00a0<\/strong>refers to all the DNA<\/a> of the human species. Human DNA consists of 3.3 billion base pairs, and it is divided into more than 20 thousand genes<\/a> on 23 chromosomes<\/a>. Humans inherit one set of chromosomes from each parent. So there are actually two copies of each of those 20,000 genes. The human genome also includes noncoding sequences of DNA, as shown in Figure 5.17.2.<\/p>\nFigure 5.17.2 Human Genome, Chromosomes, and Genes. Each chromosome of the human genome contains many genes, as well as noncoding intergenic (between genes) regions. Each pair of chromosomes is shown here in a different colour.<\/em><\/figcaption><\/figure>\n\nDiscovering the Human Genome<\/h1>\n<\/div>\n
Scientists now know the sequence of all the\u00a0DNA\u00a0base\u00a0pairs in the entire human genome. This knowledge was attained by the\u00a0Human Genome Project<\/a><\/strong>\u00a0<\/strong>(HGP<\/a>),\u00a0<\/strong>a $3 billion, international scientific\u00a0research\u00a0project that was formally launched in 1990. The project was completed in 2003, two years ahead of its 15-year projected deadline.<\/p>\nDetermining the sequence of the billions of\u00a0base\u00a0pairs that make up human\u00a0DNA<\/a>\u00a0was the main goal of the HGP<\/a>. Another goal was\u00a0to map\u00a0the\u00a0location\u00a0and\u00a0determine\u00a0the function of all the genes in the human genome.\u00a0A\u00a0somewhat surprising finding of the HGP is\u00a0the relatively small number of human genes. There are only about 20,500 genes in human beings. This may sound like a lot, but it’s about the same number as in mice. Another surprising finding of the HGP is the large number of nearly identical, repeated DNA segments in the human genome. This number was previously\u00a0believed\u00a0to be much smaller.<\/p>\nA Collaborative Effort<\/h2>\nFigure 5.17.3 The first printout of the human genome to be presented as a series of books, displayed in the ‘Medicine Now’ room at the Wellcome Collection, London. The 3.4 billion units of DNA code are transcribed into more than a hundred volumes, each a thousand pages long, in type so small as to be barely legible.<\/em><\/figcaption><\/figure>\nFunding for the HGP came from the U.S. Department of\u00a0Energy\u00a0and the National Institutes of Health, as well as from foreign institutions. The actual research was undertaken by scientists in 20 universities in the U.S., United\u00a0Kingdom, Australia, France, Germany, Japan, and China. A private U.S. company named Celera<\/a> also contributed to the effort. Although Celera had hoped to patent some of the genes it discovered, this was later denied. The entire DNA sequence of the genome is stored in databases that are available to anyone on the Internet. Additional data and tools for analyzing the human genome are also available online.<\/p>\nReference Genome of the Human Genome Project<\/h2>\n
In 2003, the HGP published the results of its sequencing of DNA as a human reference genome. The reference genome sequences a full set of\u00a0human chromosomes, but it clearly doesn’t represent the sequence of\u00a0every<\/em> human individual’s genome. Instead, it is the combined mosaic of a small number of anonymous donors. The DNA that was sequenced came from\u00a0blood\u00a0samples of the female donors and\u00a0sperm\u00a0samples of the male donors. All of the donors were of European origin, and more\u00a0than 70 per cent of the reference DNA came from a single anonymous male donor from Buffalo, New York. Identities of all the donors\u00a0were protected so neither they nor the researchers could know whose DNA was sequenced.<\/p>\nSubsequent projects have sequenced the genomes of multiple distinct ethnic groups. Ongoing research is searching base by base for variations in the sequence. However, there is still only one reference genome available.<\/p>\n
Benefits of the Human Genome Project<\/h2>\n
The sequencing of the human genome\u00a0has\u00a0benefits for many fields, including molecular medicine and\u00a0human evolution.<\/p>\n
\n- Knowing the human DNA sequence can help us understand many human diseases. For example, it is helping\u00a0researchers\u00a0identify\u00a0mutations\u00a0linked to different forms of\u00a0cancer<\/a>. It is also yielding insights into the genetic basis of cystic fibrosis, liver diseases, blood-clotting disorders, and Alzheimer’s disease, among others.<\/li>\n
- The human DNA sequence can also help researchers tailor medications to individual genotypes<\/a>. This is called personalized medicine, and it has led to an entirely new field called pharmacogenomics. Pharmacogenomics<\/a>,<\/strong> also called pharmacogenetics, is the study of how our genes affect the way we respond to drugs. You can read more about pharmacogenomics in the Feature section below.<\/li>\n
- The analysis of similarities between DNA sequences from different organisms is opening new avenues in the study of evolution. For example, analyses are expected to shed light on many questions about the similarities and differences between humans and our closest relatives, the nonhuman\u00a0primates.<\/li>\n<\/ul>\n
Ethical, Legal, and Social Issues of the Human Genome Project<\/h2>\n
From its launch in 1990, the HGP proactively established and funded a separate committee to oversee potential ethical, legal, and social issues associated with the project.\u00a0 Some of these possible issues include:<\/p>\n
\n- The possible use of the knowledge generated by the project to discriminate against people. There were worries that that employers and health insurance companies would refuse to hire or insure people based on their genetic makeup, for instance, if they had genes that increased their risk of getting certain diseases.<\/li>\n
- The issues surrounding “ownership” of DNA sequences.\u00a0 There have been requests by the both governmental agencies and private companies for patents of certain sequences of human genes called cDNA, although the US Patent Office has rejected all applications.<\/li>\n
- Education of healthcare professionals, policy makers and the public about the complex issues involved in the HGP and what is done with the information acquired from it.<\/li>\n<\/ul>\n
Feature: Human Biology in the News<\/span><\/p>\nNot everyone responds to medications in the same way. A drug that works well for one person may not be effective\u00a0for\u00a0another. The dose of a drug that cures a disease in one individual may be inadequate for someone else. Some people may experience side effects from a given medication, whereas other people do not. This variation in responses to medications can be due to differences in our genes<\/a>. That’s where the field of pharmacogenetics comes in. News media have hailed it as the “new frontier in medicine.” It certainly seems to hold promise for improving the treatment of patients with pharmaceutical drugs.<\/p>\nPharmacogenomics is based on a special kind of genetic testing. It looks for small genetic variations that influence a person’s ability to activate and deactivate drugs. Results of the tests can help doctors choose the best drug and most effective dose for a given patient. Some of the greatest successes of pharmacogenomics have been in\u00a0cancer\u00a0treatment. Many of the drugs that treat cancer need to be activated by the patient’s own\u00a0enzymes. Inherited variations in enzymes may affect how quickly or efficiently the drugs are activated. For example, if a patient’s enzymes break down a particular drug too slowly, then standard doses of the drug may not work very well for that patient. Drugs also must be deactivated to reduce their effects on healthy\u00a0cells. If a patient’s enzymes deactivate a drug too slowly, then the drug may remain at high levels and cause side effects.<\/p>\n
One of the main benefits of pharmacogenomics is greater patient safety. Pharmacogenomic testing may help identify patients who are likely to experience adverse reactions to drugs, so that different, safer drugs can be prescribed. Another benefit of pharmacogenomics is eliminating the trial-and-error approach that is often used to find appropriate medications and doses for a given patient. This saves time and money, as well as improving patient outcomes.<\/p>\n
Because pharmacogenomics is new, some insurance companies do not cover it, and it can be very expensive. Also, not all of the genetic tests are widely available at this point. In addition, there may be ethical and legal issues associated with the genetic testing, including concerns about privacy issues.<\/p>\n
\n\n5.17 Summary<\/span><\/h1>\n<\/header>\n\n\n- The human genome refers to all of the DNA<\/a> of the human species. It consists of more than 3.3 billion base pairs divided into 20,500 genes <\/a> on 23 pairs of chromosomes<\/a>.<\/li>\n
- The Human Genome Project<\/a> (HGP) was a multi-billion dollar international research project that began in 1990. By 2003, it had sequenced all of the DNA base pairs in the human genome. It also mapped the\u00a0location\u00a0and determined the function of all the genes in the human genome.<\/li>\n
- In 2003, the HGP published the results of its sequence of DNA as a human reference genome. The entire DNA sequence is stored in databases that are available to anyone on the Internet.<\/li>\n
- Sequencing of the human genome is helping researchers better understand\u00a0cancer\u00a0and genetic diseases<\/a>. It is also helping them tailor medications to individual patients, which is the focus of the new field of pharmacogenomics. In addition, it is helping researchers better understand\u00a0human evolution.<\/li>\n
- From its launch in 1990, the HGP established and funded a separate committee to oversee potential ethical, legal, and social issues associated with the project.<\/li>\n<\/ul>\n<\/div>\n<\/div>\n\n\n
\n5.17 Review Questions<\/span><\/h1>\n<\/header>\n\n\n- Describe the human genome.<\/li>\n
- What is the Human Genome Project?<\/li>\n
- Identify two main goals of the Human Genome Project.<\/li>\n
- What is the reference genome of the Human Genome Project? What is it based on?<\/li>\n
- Explain how knowing the sequence of DNA bases in the human genome is beneficial for molecular medicine.<\/li>\n
- What was one surprising finding of the Human Genome Project?<\/li>\n
- Why do you think scientists didn\u2019t just sequence the DNA from a single person for the Human Genome Project? Along those lines, why do you think it is important to include samples from different ethnic groups and genders in genome sequencing efforts?<\/li>\n
- What is pharmacogenomics?<\/li>\n
- If a patient were to have pharmacogenomics done to optimize their medication, what do you think the first step would be?<\/li>\n
- List one advantage and one disadvantage of pharmacogenomics.<\/li>\n
- Explain how the sequencing of the human genome relates to ethical concerns about genetic discrimination.<\/li>\n<\/ol>\n<\/div>\n<\/div>\n\n
\n5.17 Explore More<\/span><\/h1>\n<\/header>\n\n
Figure 5.17.3 The first printout of the human genome to be presented as a series of books, displayed in the 'Medicine Now' room at the Wellcome Collection, London. The 3.4 billion units of DNA code are transcribed into more than a hundred volumes, each a thousand pages long, in type so small as to be barely legible.<\/em>[\/caption]\r\n\r\nFunding for the HGP came from the U.S. Department of\u00a0Energy\u00a0and the National Institutes of Health, as well as from foreign institutions. The actual research was undertaken by scientists in 20 universities in the U.S., United\u00a0Kingdom, Australia, France, Germany, Japan, and China. A private U.S. company named Celera<\/a> also contributed to the effort. Although Celera had hoped to patent some of the genes it discovered, this was later denied. The entire DNA sequence of the genome is stored in databases that are available to anyone on the Internet. Additional data and tools for analyzing the human genome are also available online.\r\nReference Genome of the Human Genome Project<\/h2>\r\nIn 2003, the HGP published the results of its sequencing of DNA as a human reference genome. The reference genome sequences a full set of\u00a0human chromosomes, but it clearly doesn't represent the sequence of\u00a0every<\/em> human individual's genome. Instead, it is the combined mosaic of a small number of anonymous donors. The DNA that was sequenced came from\u00a0blood\u00a0samples of the female donors and\u00a0sperm\u00a0samples of the male donors. All of the donors were of European origin, and more\u00a0than 70 per cent of the reference DNA came from a single anonymous male donor from Buffalo, New York. Identities of all the donors\u00a0were protected so neither they nor the researchers could know whose DNA was sequenced.\r\n\r\nSubsequent projects have sequenced the genomes of multiple distinct ethnic groups. Ongoing research is searching base by base for variations in the sequence. However, there is still only one reference genome available.\r\nBenefits of the Human Genome Project<\/h2>\r\nThe sequencing of the human genome\u00a0has\u00a0benefits for many fields, including molecular medicine and\u00a0human evolution.\r\n\r\n \t- Knowing the human DNA sequence can help us understand many human diseases. For example, it is helping\u00a0researchers\u00a0identify\u00a0mutations\u00a0linked to different forms of\u00a0[pb_glossary id=\"5605\"]cancer[\/pb_glossary]. It is also yielding insights into the genetic basis of cystic fibrosis, liver diseases, blood-clotting disorders, and Alzheimer's disease, among others.<\/li>\r\n \t
- The human DNA sequence can also help researchers tailor medications to individual [pb_glossary id=\"6039\"]genotypes[\/pb_glossary]. This is called personalized medicine, and it has led to an entirely new field called pharmacogenomics. [pb_glossary id=\"5487\"]Pharmacogenomics[\/pb_glossary],<\/strong> also called pharmacogenetics, is the study of how our genes affect the way we respond to drugs. You can read more about pharmacogenomics in the Feature section below.<\/li>\r\n \t
- The analysis of similarities between DNA sequences from different organisms is opening new avenues in the study of evolution. For example, analyses are expected to shed light on many questions about the similarities and differences between humans and our closest relatives, the nonhuman\u00a0primates.<\/li>\r\n<\/ul>\r\n
Ethical, Legal, and Social Issues of the Human Genome Project<\/h2>\r\nFrom its launch in 1990, the HGP proactively established and funded a separate committee to oversee potential ethical, legal, and social issues associated with the project.\u00a0 Some of these possible issues include:\r\n\r\n \t- The possible use of the knowledge generated by the project to discriminate against people. There were worries that that employers and health insurance companies would refuse to hire or insure people based on their genetic makeup, for instance, if they had genes that increased their risk of getting certain diseases.<\/li>\r\n \t
- The issues surrounding \"ownership\" of DNA sequences.\u00a0 There have been requests by the both governmental agencies and private companies for patents of certain sequences of human genes called cDNA, although the US Patent Office has rejected all applications.<\/li>\r\n \t
- Education of healthcare professionals, policy makers and the public about the complex issues involved in the HGP and what is done with the information acquired from it.<\/li>\r\n<\/ul>\r\nFeature: Human Biology in the News<\/span>\r\n\r\nNot everyone responds to medications in the same way. A drug that works well for one person may not be effective\u00a0for\u00a0another. The dose of a drug that cures a disease in one individual may be inadequate for someone else. Some people may experience side effects from a given medication, whereas other people do not. This variation in responses to medications can be due to differences in our [pb_glossary id=\"5521\"]genes[\/pb_glossary]. That's where the field of pharmacogenetics comes in. News media have hailed it as the \"new frontier in medicine.\" It certainly seems to hold promise for improving the treatment of patients with pharmaceutical drugs.\r\n\r\nPharmacogenomics is based on a special kind of genetic testing. It looks for small genetic variations that influence a person's ability to activate and deactivate drugs. Results of the tests can help doctors choose the best drug and most effective dose for a given patient. Some of the greatest successes of pharmacogenomics have been in\u00a0cancer\u00a0treatment. Many of the drugs that treat cancer need to be activated by the patient's own\u00a0enzymes. Inherited variations in enzymes may affect how quickly or efficiently the drugs are activated. For example, if a patient's enzymes break down a particular drug too slowly, then standard doses of the drug may not work very well for that patient. Drugs also must be deactivated to reduce their effects on healthy\u00a0cells. If a patient's enzymes deactivate a drug too slowly, then the drug may remain at high levels and cause side effects.\r\n\r\nOne of the main benefits of pharmacogenomics is greater patient safety. Pharmacogenomic testing may help identify patients who are likely to experience adverse reactions to drugs, so that different, safer drugs can be prescribed. Another benefit of pharmacogenomics is eliminating the trial-and-error approach that is often used to find appropriate medications and doses for a given patient. This saves time and money, as well as improving patient outcomes.\r\n\r\nBecause pharmacogenomics is new, some insurance companies do not cover it, and it can be very expensive. Also, not all of the genetic tests are widely available at this point. In addition, there may be ethical and legal issues associated with the genetic testing, including concerns about privacy issues.\r\n
\r\n5.17 Summary<\/span><\/h1>\r\n<\/header>\r\n\r\n\r\n \t- The human genome refers to all of the [pb_glossary id=\"277\"]DNA[\/pb_glossary] of the human species. It consists of more than 3.3 billion base pairs divided into 20,500 [pb_glossary id=\"5521\"]genes [\/pb_glossary] on 23 pairs of [pb_glossary id=\"5619\"]chromosomes[\/pb_glossary].<\/li>\r\n \t
- The [pb_glossary id=\"2604\"]Human Genome Project[\/pb_glossary] (HGP) was a multi-billion dollar international research project that began in 1990. By 2003, it had sequenced all of the DNA base pairs in the human genome. It also mapped the\u00a0location\u00a0and determined the function of all the genes in the human genome.<\/li>\r\n \t
- In 2003, the HGP published the results of its sequence of DNA as a human reference genome. The entire DNA sequence is stored in databases that are available to anyone on the Internet.<\/li>\r\n \t
- Sequencing of the human genome is helping researchers better understand\u00a0cancer\u00a0and [pb_glossary id=\"2562\"]genetic diseases[\/pb_glossary]. It is also helping them tailor medications to individual patients, which is the focus of the new field of pharmacogenomics. In addition, it is helping researchers better understand\u00a0human evolution.<\/li>\r\n \t
- From its launch in 1990, the HGP established and funded a separate committee to oversee potential ethical, legal, and social issues associated with the project.<\/li>\r\n<\/ul>\r\n<\/div>\r\n<\/div>\r\n\r\n
\r\n5.17 Review Questions<\/span><\/h1>\r\n<\/header>\r\n\r\n\r\n \t- Describe the human genome.<\/li>\r\n \t
- What is the Human Genome Project?<\/li>\r\n \t
- Identify two main goals of the Human Genome Project.<\/li>\r\n \t
- What is the reference genome of the Human Genome Project? What is it based on?<\/li>\r\n \t
- Explain how knowing the sequence of DNA bases in the human genome is beneficial for molecular medicine.<\/li>\r\n \t
- What was one surprising finding of the Human Genome Project?<\/li>\r\n \t
- Why do you think scientists didn\u2019t just sequence the DNA from a single person for the Human Genome Project? Along those lines, why do you think it is important to include samples from different ethnic groups and genders in genome sequencing efforts?<\/li>\r\n \t
- What is pharmacogenomics?<\/li>\r\n \t
- If a patient were to have pharmacogenomics done to optimize their medication, what do you think the first step would be?<\/li>\r\n \t
- List one advantage and one disadvantage of pharmacogenomics.<\/li>\r\n \t
- Explain how the sequencing of the human genome relates to ethical concerns about genetic discrimination.<\/li>\r\n<\/ol>\r\n<\/div>\r\n<\/div>\r\n
\r\n5.17 Explore More<\/span><\/h1>\r\n<\/header>\r\n\r\n\r\nhttps:\/\/www.youtube.com\/watch?v=AhsIF-cmoQQ\r\nThe race to sequence the human genome - Tien Nguyen, TED-Ed, 2015.<\/p>\r\n \r\n\r\nhttps:\/\/www.youtube.com\/watch?v=s6rJLXq1Re0\r\n
How to read the genome and build a human being | Riccardo Sabatini, TED, 2016.<\/p>\r\n \r\n\r\nhttps:\/\/www.youtube.com\/watch?v=J2ITkfzp0SY\r\n
Personalized Medicine: A New Approach | Luigi Boccuto | TEDxGreenville,\r\nTEDx Talks, 2017.<\/p>\r\n \r\n\r\n<\/div>\r\n<\/div>\r\nAttributions<\/span>\r\n\r\n<\/div>\r\nFigure 5.17.1<\/strong>\r\n\r\nVitruvian_man (black and white copy)<\/a> by Leonardo Da Vinci,<\/a> 1490, by Ianbond<\/a> on Wikimedia Commons is released into the public domain<\/a> (https:\/\/en.wikipedia.org\/wiki\/Public_domain).\r\n\r\nFigure 5.17.2<\/strong>\r\n\r\nHuman Genome<\/a>\u00a0by CK-12 Foundation<\/a>\u00a0 is used under a\u00a0CC BY-NC 3.0<\/a>\u00a0 (https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/) license.\r\n\r\n \u00a9<\/span>CK-12 Foundation<\/a> Licensed under\u00a0<\/span><\/a>\u00a0\u2022\u00a0<\/span>Terms of Use<\/a>\u00a0\u2022\u00a0<\/span>Attribution<\/a>\r\n\r\nFigure 5.17.3<\/strong>\r\n\r\nHuman genome_bookcase<\/a> by Russ London<\/a> at English Wikipedia is used under a CC BY-SA 3.0<\/a>\u00a0(https:\/\/creativecommons.org\/licenses\/by-sa\/3.0\/deed.en) license.\r\nReferences<\/h2>\r\n
Brainard, J\/ CK-12 Foundation. (2016). Figure 2 Human genome, chromosomes, and genes. [digital image]. In CK-12 College Human Biology<\/em> (Section 5.16) [online Flexbook]. CK12.org. https:\/\/www.ck12.org\/book\/ck-12-college-human-biology\/section\/5.16\/<\/p>\r\nNational Human Genome Research Institute (NHGRI). (n.d.). The Human Genome Project (HGP). National Institute of Health (NIH) \/US Government. https:\/\/www.genome.gov\/human-genome-project<\/p>\r\n
TED. (2016, May 24). How to read the genome and build a human being | Riccardo Sabatini. YouTube. https:\/\/www.youtube.com\/watch?v=s6rJLXq1Re0&t=2s<\/p>\r\n
TED-Ed. (2015, October 12). The race to sequence the human genome - Tien Nguyen. YouTube. https:\/\/www.youtube.com\/watch?v=AhsIF-cmoQQ&t=7s<\/p>\r\n
TEDx Talks. (2017, June 8). Personalized medicine: A new approach | Luigi Boccuto | TEDxGreenville. https:\/\/www.youtube.com\/watch?v=J2ITkfzp0SY&t=4s<\/p>\r\n
Wikipedia contributors. (2020, April 18). Celera Corporation. In Wikipedia<\/em>.\u00a0 https:\/\/en.wikipedia.org\/w\/index.php?title=Celera_Corporation&oldid=951693886<\/p>\r\nWikipedia contributors. (2020, July 6). Human Genome Project. In Wikipedia<\/em>. https:\/\/en.wikipedia.org\/w\/index.php?title=Human_Genome_Project&oldid=966272762<\/p>\r\nWikipedia contributors. (2020, July 12). Leonardo da Vinci. In Wikipedia<\/em>.\u00a0 https:\/\/en.wikipedia.org\/w\/index.php?title=Leonardo_da_Vinci&oldid=967303882<\/p>\r\nWikipedia contributors. (2020, May 19). Vitruvian Man. In Wikipedia. https:\/\/en.wikipedia.org\/w\/index.php?title=Vitruvian_Man&oldid=957472578<\/p>","rendered":"
<\/p>\nFigure 5.17.1 A Black and White Copy of Leonardi de Vinci’s Vitruvian Man. <\/em><\/figcaption><\/figure>\n\nVitruvian Man<\/h3>\n<\/div>\n
The drawing in Figure 5.17.1, named Vitruvian Man<\/em><\/a>, was created by Leonardo da Vinci<\/a> in 1490. It was meant to show normal\u00a0human body\u00a0proportions.\u00a0Vitruvian<\/em>\u00a0Man<\/em>\u00a0is used today to represent a different approach to the\u00a0human body. It symbolizes a scientific\u00a0research\u00a0project that began in 1990, exactly 500 years after\u00a0da Vinci created the drawing. That project, called the Human Genome Project, is the largest collaborative biological\u00a0research\u00a0project ever undertaken.<\/p>\n\nWhat Is the Human Genome?<\/h3>\n<\/div>\n
The\u00a0human genome<\/a>\u00a0<\/strong>refers to all the DNA<\/a> of the human species. Human DNA consists of 3.3 billion base pairs, and it is divided into more than 20 thousand genes<\/a> on 23 chromosomes<\/a>. Humans inherit one set of chromosomes from each parent. So there are actually two copies of each of those 20,000 genes. The human genome also includes noncoding sequences of DNA, as shown in Figure 5.17.2.<\/p>\nFigure 5.17.2 Human Genome, Chromosomes, and Genes. Each chromosome of the human genome contains many genes, as well as noncoding intergenic (between genes) regions. Each pair of chromosomes is shown here in a different colour.<\/em><\/figcaption><\/figure>\n\nDiscovering the Human Genome<\/h1>\n<\/div>\n
Scientists now know the sequence of all the\u00a0DNA\u00a0base\u00a0pairs in the entire human genome. This knowledge was attained by the\u00a0Human Genome Project<\/a><\/strong>\u00a0<\/strong>(HGP<\/a>),\u00a0<\/strong>a $3 billion, international scientific\u00a0research\u00a0project that was formally launched in 1990. The project was completed in 2003, two years ahead of its 15-year projected deadline.<\/p>\nDetermining the sequence of the billions of\u00a0base\u00a0pairs that make up human\u00a0DNA<\/a>\u00a0was the main goal of the HGP<\/a>. Another goal was\u00a0to map\u00a0the\u00a0location\u00a0and\u00a0determine\u00a0the function of all the genes in the human genome.\u00a0A\u00a0somewhat surprising finding of the HGP is\u00a0the relatively small number of human genes. There are only about 20,500 genes in human beings. This may sound like a lot, but it’s about the same number as in mice. Another surprising finding of the HGP is the large number of nearly identical, repeated DNA segments in the human genome. This number was previously\u00a0believed\u00a0to be much smaller.<\/p>\nA Collaborative Effort<\/h2>\nFigure 5.17.3 The first printout of the human genome to be presented as a series of books, displayed in the ‘Medicine Now’ room at the Wellcome Collection, London. The 3.4 billion units of DNA code are transcribed into more than a hundred volumes, each a thousand pages long, in type so small as to be barely legible.<\/em><\/figcaption><\/figure>\nFunding for the HGP came from the U.S. Department of\u00a0Energy\u00a0and the National Institutes of Health, as well as from foreign institutions. The actual research was undertaken by scientists in 20 universities in the U.S., United\u00a0Kingdom, Australia, France, Germany, Japan, and China. A private U.S. company named Celera<\/a> also contributed to the effort. Although Celera had hoped to patent some of the genes it discovered, this was later denied. The entire DNA sequence of the genome is stored in databases that are available to anyone on the Internet. Additional data and tools for analyzing the human genome are also available online.<\/p>\nReference Genome of the Human Genome Project<\/h2>\n
In 2003, the HGP published the results of its sequencing of DNA as a human reference genome. The reference genome sequences a full set of\u00a0human chromosomes, but it clearly doesn’t represent the sequence of\u00a0every<\/em> human individual’s genome. Instead, it is the combined mosaic of a small number of anonymous donors. The DNA that was sequenced came from\u00a0blood\u00a0samples of the female donors and\u00a0sperm\u00a0samples of the male donors. All of the donors were of European origin, and more\u00a0than 70 per cent of the reference DNA came from a single anonymous male donor from Buffalo, New York. Identities of all the donors\u00a0were protected so neither they nor the researchers could know whose DNA was sequenced.<\/p>\nSubsequent projects have sequenced the genomes of multiple distinct ethnic groups. Ongoing research is searching base by base for variations in the sequence. However, there is still only one reference genome available.<\/p>\n
Benefits of the Human Genome Project<\/h2>\n
The sequencing of the human genome\u00a0has\u00a0benefits for many fields, including molecular medicine and\u00a0human evolution.<\/p>\n
\n- Knowing the human DNA sequence can help us understand many human diseases. For example, it is helping\u00a0researchers\u00a0identify\u00a0mutations\u00a0linked to different forms of\u00a0cancer<\/a>. It is also yielding insights into the genetic basis of cystic fibrosis, liver diseases, blood-clotting disorders, and Alzheimer’s disease, among others.<\/li>\n
- The human DNA sequence can also help researchers tailor medications to individual genotypes<\/a>. This is called personalized medicine, and it has led to an entirely new field called pharmacogenomics. Pharmacogenomics<\/a>,<\/strong> also called pharmacogenetics, is the study of how our genes affect the way we respond to drugs. You can read more about pharmacogenomics in the Feature section below.<\/li>\n
- The analysis of similarities between DNA sequences from different organisms is opening new avenues in the study of evolution. For example, analyses are expected to shed light on many questions about the similarities and differences between humans and our closest relatives, the nonhuman\u00a0primates.<\/li>\n<\/ul>\n
Ethical, Legal, and Social Issues of the Human Genome Project<\/h2>\n
From its launch in 1990, the HGP proactively established and funded a separate committee to oversee potential ethical, legal, and social issues associated with the project.\u00a0 Some of these possible issues include:<\/p>\n
\n- The possible use of the knowledge generated by the project to discriminate against people. There were worries that that employers and health insurance companies would refuse to hire or insure people based on their genetic makeup, for instance, if they had genes that increased their risk of getting certain diseases.<\/li>\n
- The issues surrounding “ownership” of DNA sequences.\u00a0 There have been requests by the both governmental agencies and private companies for patents of certain sequences of human genes called cDNA, although the US Patent Office has rejected all applications.<\/li>\n
- Education of healthcare professionals, policy makers and the public about the complex issues involved in the HGP and what is done with the information acquired from it.<\/li>\n<\/ul>\n
Feature: Human Biology in the News<\/span><\/p>\nNot everyone responds to medications in the same way. A drug that works well for one person may not be effective\u00a0for\u00a0another. The dose of a drug that cures a disease in one individual may be inadequate for someone else. Some people may experience side effects from a given medication, whereas other people do not. This variation in responses to medications can be due to differences in our genes<\/a>. That’s where the field of pharmacogenetics comes in. News media have hailed it as the “new frontier in medicine.” It certainly seems to hold promise for improving the treatment of patients with pharmaceutical drugs.<\/p>\nPharmacogenomics is based on a special kind of genetic testing. It looks for small genetic variations that influence a person’s ability to activate and deactivate drugs. Results of the tests can help doctors choose the best drug and most effective dose for a given patient. Some of the greatest successes of pharmacogenomics have been in\u00a0cancer\u00a0treatment. Many of the drugs that treat cancer need to be activated by the patient’s own\u00a0enzymes. Inherited variations in enzymes may affect how quickly or efficiently the drugs are activated. For example, if a patient’s enzymes break down a particular drug too slowly, then standard doses of the drug may not work very well for that patient. Drugs also must be deactivated to reduce their effects on healthy\u00a0cells. If a patient’s enzymes deactivate a drug too slowly, then the drug may remain at high levels and cause side effects.<\/p>\n
One of the main benefits of pharmacogenomics is greater patient safety. Pharmacogenomic testing may help identify patients who are likely to experience adverse reactions to drugs, so that different, safer drugs can be prescribed. Another benefit of pharmacogenomics is eliminating the trial-and-error approach that is often used to find appropriate medications and doses for a given patient. This saves time and money, as well as improving patient outcomes.<\/p>\n
Because pharmacogenomics is new, some insurance companies do not cover it, and it can be very expensive. Also, not all of the genetic tests are widely available at this point. In addition, there may be ethical and legal issues associated with the genetic testing, including concerns about privacy issues.<\/p>\n
\n\n5.17 Summary<\/span><\/h1>\n<\/header>\n\n\n- The human genome refers to all of the DNA<\/a> of the human species. It consists of more than 3.3 billion base pairs divided into 20,500 genes <\/a> on 23 pairs of chromosomes<\/a>.<\/li>\n
- The Human Genome Project<\/a> (HGP) was a multi-billion dollar international research project that began in 1990. By 2003, it had sequenced all of the DNA base pairs in the human genome. It also mapped the\u00a0location\u00a0and determined the function of all the genes in the human genome.<\/li>\n
- In 2003, the HGP published the results of its sequence of DNA as a human reference genome. The entire DNA sequence is stored in databases that are available to anyone on the Internet.<\/li>\n
- Sequencing of the human genome is helping researchers better understand\u00a0cancer\u00a0and genetic diseases<\/a>. It is also helping them tailor medications to individual patients, which is the focus of the new field of pharmacogenomics. In addition, it is helping researchers better understand\u00a0human evolution.<\/li>\n
- From its launch in 1990, the HGP established and funded a separate committee to oversee potential ethical, legal, and social issues associated with the project.<\/li>\n<\/ul>\n<\/div>\n<\/div>\n\n\n
\n5.17 Review Questions<\/span><\/h1>\n<\/header>\n\n\n- Describe the human genome.<\/li>\n
- What is the Human Genome Project?<\/li>\n
- Identify two main goals of the Human Genome Project.<\/li>\n
- What is the reference genome of the Human Genome Project? What is it based on?<\/li>\n
- Explain how knowing the sequence of DNA bases in the human genome is beneficial for molecular medicine.<\/li>\n
- What was one surprising finding of the Human Genome Project?<\/li>\n
- Why do you think scientists didn\u2019t just sequence the DNA from a single person for the Human Genome Project? Along those lines, why do you think it is important to include samples from different ethnic groups and genders in genome sequencing efforts?<\/li>\n
- What is pharmacogenomics?<\/li>\n
- If a patient were to have pharmacogenomics done to optimize their medication, what do you think the first step would be?<\/li>\n
- List one advantage and one disadvantage of pharmacogenomics.<\/li>\n
- Explain how the sequencing of the human genome relates to ethical concerns about genetic discrimination.<\/li>\n<\/ol>\n<\/div>\n<\/div>\n\n
\n5.17 Explore More<\/span><\/h1>\n<\/header>\n\n
- \r\n \t
- Knowing the human DNA sequence can help us understand many human diseases. For example, it is helping\u00a0researchers\u00a0identify\u00a0mutations\u00a0linked to different forms of\u00a0[pb_glossary id=\"5605\"]cancer[\/pb_glossary]. It is also yielding insights into the genetic basis of cystic fibrosis, liver diseases, blood-clotting disorders, and Alzheimer's disease, among others.<\/li>\r\n \t
- The human DNA sequence can also help researchers tailor medications to individual [pb_glossary id=\"6039\"]genotypes[\/pb_glossary]. This is called personalized medicine, and it has led to an entirely new field called pharmacogenomics. [pb_glossary id=\"5487\"]Pharmacogenomics[\/pb_glossary],<\/strong> also called pharmacogenetics, is the study of how our genes affect the way we respond to drugs. You can read more about pharmacogenomics in the Feature section below.<\/li>\r\n \t
- The analysis of similarities between DNA sequences from different organisms is opening new avenues in the study of evolution. For example, analyses are expected to shed light on many questions about the similarities and differences between humans and our closest relatives, the nonhuman\u00a0primates.<\/li>\r\n<\/ul>\r\n
Ethical, Legal, and Social Issues of the Human Genome Project<\/h2>\r\nFrom its launch in 1990, the HGP proactively established and funded a separate committee to oversee potential ethical, legal, and social issues associated with the project.\u00a0 Some of these possible issues include:\r\n
- \r\n \t
- The possible use of the knowledge generated by the project to discriminate against people. There were worries that that employers and health insurance companies would refuse to hire or insure people based on their genetic makeup, for instance, if they had genes that increased their risk of getting certain diseases.<\/li>\r\n \t
- The issues surrounding \"ownership\" of DNA sequences.\u00a0 There have been requests by the both governmental agencies and private companies for patents of certain sequences of human genes called cDNA, although the US Patent Office has rejected all applications.<\/li>\r\n \t
- Education of healthcare professionals, policy makers and the public about the complex issues involved in the HGP and what is done with the information acquired from it.<\/li>\r\n<\/ul>\r\nFeature: Human Biology in the News<\/span>\r\n\r\nNot everyone responds to medications in the same way. A drug that works well for one person may not be effective\u00a0for\u00a0another. The dose of a drug that cures a disease in one individual may be inadequate for someone else. Some people may experience side effects from a given medication, whereas other people do not. This variation in responses to medications can be due to differences in our [pb_glossary id=\"5521\"]genes[\/pb_glossary]. That's where the field of pharmacogenetics comes in. News media have hailed it as the \"new frontier in medicine.\" It certainly seems to hold promise for improving the treatment of patients with pharmaceutical drugs.\r\n\r\nPharmacogenomics is based on a special kind of genetic testing. It looks for small genetic variations that influence a person's ability to activate and deactivate drugs. Results of the tests can help doctors choose the best drug and most effective dose for a given patient. Some of the greatest successes of pharmacogenomics have been in\u00a0cancer\u00a0treatment. Many of the drugs that treat cancer need to be activated by the patient's own\u00a0enzymes. Inherited variations in enzymes may affect how quickly or efficiently the drugs are activated. For example, if a patient's enzymes break down a particular drug too slowly, then standard doses of the drug may not work very well for that patient. Drugs also must be deactivated to reduce their effects on healthy\u00a0cells. If a patient's enzymes deactivate a drug too slowly, then the drug may remain at high levels and cause side effects.\r\n\r\nOne of the main benefits of pharmacogenomics is greater patient safety. Pharmacogenomic testing may help identify patients who are likely to experience adverse reactions to drugs, so that different, safer drugs can be prescribed. Another benefit of pharmacogenomics is eliminating the trial-and-error approach that is often used to find appropriate medications and doses for a given patient. This saves time and money, as well as improving patient outcomes.\r\n\r\nBecause pharmacogenomics is new, some insurance companies do not cover it, and it can be very expensive. Also, not all of the genetic tests are widely available at this point. In addition, there may be ethical and legal issues associated with the genetic testing, including concerns about privacy issues.\r\n
\r\n 5.17 Summary<\/span><\/h1>\r\n<\/header>\r\n
\r\n- \r\n \t
- The human genome refers to all of the [pb_glossary id=\"277\"]DNA[\/pb_glossary] of the human species. It consists of more than 3.3 billion base pairs divided into 20,500 [pb_glossary id=\"5521\"]genes [\/pb_glossary] on 23 pairs of [pb_glossary id=\"5619\"]chromosomes[\/pb_glossary].<\/li>\r\n \t
- The [pb_glossary id=\"2604\"]Human Genome Project[\/pb_glossary] (HGP) was a multi-billion dollar international research project that began in 1990. By 2003, it had sequenced all of the DNA base pairs in the human genome. It also mapped the\u00a0location\u00a0and determined the function of all the genes in the human genome.<\/li>\r\n \t
- In 2003, the HGP published the results of its sequence of DNA as a human reference genome. The entire DNA sequence is stored in databases that are available to anyone on the Internet.<\/li>\r\n \t
- Sequencing of the human genome is helping researchers better understand\u00a0cancer\u00a0and [pb_glossary id=\"2562\"]genetic diseases[\/pb_glossary]. It is also helping them tailor medications to individual patients, which is the focus of the new field of pharmacogenomics. In addition, it is helping researchers better understand\u00a0human evolution.<\/li>\r\n \t
- From its launch in 1990, the HGP established and funded a separate committee to oversee potential ethical, legal, and social issues associated with the project.<\/li>\r\n<\/ul>\r\n<\/div>\r\n<\/div>\r\n\r\n
\r\n 5.17 Review Questions<\/span><\/h1>\r\n<\/header>\r\n
\r\n- \r\n \t
- Describe the human genome.<\/li>\r\n \t
- What is the Human Genome Project?<\/li>\r\n \t
- Identify two main goals of the Human Genome Project.<\/li>\r\n \t
- What is the reference genome of the Human Genome Project? What is it based on?<\/li>\r\n \t
- Explain how knowing the sequence of DNA bases in the human genome is beneficial for molecular medicine.<\/li>\r\n \t
- What was one surprising finding of the Human Genome Project?<\/li>\r\n \t
- Why do you think scientists didn\u2019t just sequence the DNA from a single person for the Human Genome Project? Along those lines, why do you think it is important to include samples from different ethnic groups and genders in genome sequencing efforts?<\/li>\r\n \t
- What is pharmacogenomics?<\/li>\r\n \t
- If a patient were to have pharmacogenomics done to optimize their medication, what do you think the first step would be?<\/li>\r\n \t
- List one advantage and one disadvantage of pharmacogenomics.<\/li>\r\n \t
- Explain how the sequencing of the human genome relates to ethical concerns about genetic discrimination.<\/li>\r\n<\/ol>\r\n<\/div>\r\n<\/div>\r\n
\r\n 5.17 Explore More<\/span><\/h1>\r\n<\/header>\r\n
\r\n\r\nhttps:\/\/www.youtube.com\/watch?v=AhsIF-cmoQQ\r\nThe race to sequence the human genome - Tien Nguyen, TED-Ed, 2015.<\/p>\r\n \r\n\r\nhttps:\/\/www.youtube.com\/watch?v=s6rJLXq1Re0\r\n
How to read the genome and build a human being | Riccardo Sabatini, TED, 2016.<\/p>\r\n \r\n\r\nhttps:\/\/www.youtube.com\/watch?v=J2ITkfzp0SY\r\n
Personalized Medicine: A New Approach | Luigi Boccuto | TEDxGreenville,\r\nTEDx Talks, 2017.<\/p>\r\n \r\n\r\n<\/div>\r\n<\/div>\r\nAttributions<\/span>\r\n\r\n<\/div>\r\nFigure 5.17.1<\/strong>\r\n\r\nVitruvian_man (black and white copy)<\/a> by Leonardo Da Vinci,<\/a> 1490, by Ianbond<\/a> on Wikimedia Commons is released into the public domain<\/a> (https:\/\/en.wikipedia.org\/wiki\/Public_domain).\r\n\r\nFigure 5.17.2<\/strong>\r\n\r\nHuman Genome<\/a>\u00a0by CK-12 Foundation<\/a>\u00a0 is used under a\u00a0CC BY-NC 3.0<\/a>\u00a0 (https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/) license.\r\n\r\n
\u00a9<\/span>CK-12 Foundation<\/a> Licensed under\u00a0<\/span><\/a>\u00a0\u2022\u00a0<\/span>Terms of Use<\/a>\u00a0\u2022\u00a0<\/span>Attribution<\/a>\r\n\r\nFigure 5.17.3<\/strong>\r\n\r\nHuman genome_bookcase<\/a> by Russ London<\/a> at English Wikipedia is used under a CC BY-SA 3.0<\/a>\u00a0(https:\/\/creativecommons.org\/licenses\/by-sa\/3.0\/deed.en) license.\r\nReferences<\/h2>\r\n
Brainard, J\/ CK-12 Foundation. (2016). Figure 2 Human genome, chromosomes, and genes. [digital image]. In CK-12 College Human Biology<\/em> (Section 5.16) [online Flexbook]. CK12.org. https:\/\/www.ck12.org\/book\/ck-12-college-human-biology\/section\/5.16\/<\/p>\r\n
National Human Genome Research Institute (NHGRI). (n.d.). The Human Genome Project (HGP). National Institute of Health (NIH) \/US Government. https:\/\/www.genome.gov\/human-genome-project<\/p>\r\n
TED. (2016, May 24). How to read the genome and build a human being | Riccardo Sabatini. YouTube. https:\/\/www.youtube.com\/watch?v=s6rJLXq1Re0&t=2s<\/p>\r\n
TED-Ed. (2015, October 12). The race to sequence the human genome - Tien Nguyen. YouTube. https:\/\/www.youtube.com\/watch?v=AhsIF-cmoQQ&t=7s<\/p>\r\n
TEDx Talks. (2017, June 8). Personalized medicine: A new approach | Luigi Boccuto | TEDxGreenville. https:\/\/www.youtube.com\/watch?v=J2ITkfzp0SY&t=4s<\/p>\r\n
Wikipedia contributors. (2020, April 18). Celera Corporation. In Wikipedia<\/em>.\u00a0 https:\/\/en.wikipedia.org\/w\/index.php?title=Celera_Corporation&oldid=951693886<\/p>\r\n
Wikipedia contributors. (2020, July 6). Human Genome Project. In Wikipedia<\/em>. https:\/\/en.wikipedia.org\/w\/index.php?title=Human_Genome_Project&oldid=966272762<\/p>\r\n
Wikipedia contributors. (2020, July 12). Leonardo da Vinci. In Wikipedia<\/em>.\u00a0 https:\/\/en.wikipedia.org\/w\/index.php?title=Leonardo_da_Vinci&oldid=967303882<\/p>\r\n
Wikipedia contributors. (2020, May 19). Vitruvian Man. In Wikipedia. https:\/\/en.wikipedia.org\/w\/index.php?title=Vitruvian_Man&oldid=957472578<\/p>","rendered":"
<\/p>\n
Figure 5.17.1 A Black and White Copy of Leonardi de Vinci’s Vitruvian Man. <\/em><\/figcaption><\/figure>\n \nVitruvian Man<\/h3>\n<\/div>\n
The drawing in Figure 5.17.1, named Vitruvian Man<\/em><\/a>, was created by Leonardo da Vinci<\/a> in 1490. It was meant to show normal\u00a0human body\u00a0proportions.\u00a0Vitruvian<\/em>\u00a0Man<\/em>\u00a0is used today to represent a different approach to the\u00a0human body. It symbolizes a scientific\u00a0research\u00a0project that began in 1990, exactly 500 years after\u00a0da Vinci created the drawing. That project, called the Human Genome Project, is the largest collaborative biological\u00a0research\u00a0project ever undertaken.<\/p>\n
\nWhat Is the Human Genome?<\/h3>\n<\/div>\n
The\u00a0human genome<\/a>\u00a0<\/strong>refers to all the DNA<\/a> of the human species. Human DNA consists of 3.3 billion base pairs, and it is divided into more than 20 thousand genes<\/a> on 23 chromosomes<\/a>. Humans inherit one set of chromosomes from each parent. So there are actually two copies of each of those 20,000 genes. The human genome also includes noncoding sequences of DNA, as shown in Figure 5.17.2.<\/p>\n
Figure 5.17.2 Human Genome, Chromosomes, and Genes. Each chromosome of the human genome contains many genes, as well as noncoding intergenic (between genes) regions. Each pair of chromosomes is shown here in a different colour.<\/em><\/figcaption><\/figure>\n \nDiscovering the Human Genome<\/h1>\n<\/div>\n
Scientists now know the sequence of all the\u00a0DNA\u00a0base\u00a0pairs in the entire human genome. This knowledge was attained by the\u00a0Human Genome Project<\/a><\/strong>\u00a0<\/strong>(HGP<\/a>),\u00a0<\/strong>a $3 billion, international scientific\u00a0research\u00a0project that was formally launched in 1990. The project was completed in 2003, two years ahead of its 15-year projected deadline.<\/p>\n
Determining the sequence of the billions of\u00a0base\u00a0pairs that make up human\u00a0DNA<\/a>\u00a0was the main goal of the HGP<\/a>. Another goal was\u00a0to map\u00a0the\u00a0location\u00a0and\u00a0determine\u00a0the function of all the genes in the human genome.\u00a0A\u00a0somewhat surprising finding of the HGP is\u00a0the relatively small number of human genes. There are only about 20,500 genes in human beings. This may sound like a lot, but it’s about the same number as in mice. Another surprising finding of the HGP is the large number of nearly identical, repeated DNA segments in the human genome. This number was previously\u00a0believed\u00a0to be much smaller.<\/p>\n
A Collaborative Effort<\/h2>\n
Figure 5.17.3 The first printout of the human genome to be presented as a series of books, displayed in the ‘Medicine Now’ room at the Wellcome Collection, London. The 3.4 billion units of DNA code are transcribed into more than a hundred volumes, each a thousand pages long, in type so small as to be barely legible.<\/em><\/figcaption><\/figure>\n Funding for the HGP came from the U.S. Department of\u00a0Energy\u00a0and the National Institutes of Health, as well as from foreign institutions. The actual research was undertaken by scientists in 20 universities in the U.S., United\u00a0Kingdom, Australia, France, Germany, Japan, and China. A private U.S. company named Celera<\/a> also contributed to the effort. Although Celera had hoped to patent some of the genes it discovered, this was later denied. The entire DNA sequence of the genome is stored in databases that are available to anyone on the Internet. Additional data and tools for analyzing the human genome are also available online.<\/p>\n
Reference Genome of the Human Genome Project<\/h2>\n
In 2003, the HGP published the results of its sequencing of DNA as a human reference genome. The reference genome sequences a full set of\u00a0human chromosomes, but it clearly doesn’t represent the sequence of\u00a0every<\/em> human individual’s genome. Instead, it is the combined mosaic of a small number of anonymous donors. The DNA that was sequenced came from\u00a0blood\u00a0samples of the female donors and\u00a0sperm\u00a0samples of the male donors. All of the donors were of European origin, and more\u00a0than 70 per cent of the reference DNA came from a single anonymous male donor from Buffalo, New York. Identities of all the donors\u00a0were protected so neither they nor the researchers could know whose DNA was sequenced.<\/p>\n
Subsequent projects have sequenced the genomes of multiple distinct ethnic groups. Ongoing research is searching base by base for variations in the sequence. However, there is still only one reference genome available.<\/p>\n
Benefits of the Human Genome Project<\/h2>\n
The sequencing of the human genome\u00a0has\u00a0benefits for many fields, including molecular medicine and\u00a0human evolution.<\/p>\n
- \n
- Knowing the human DNA sequence can help us understand many human diseases. For example, it is helping\u00a0researchers\u00a0identify\u00a0mutations\u00a0linked to different forms of\u00a0cancer<\/a>. It is also yielding insights into the genetic basis of cystic fibrosis, liver diseases, blood-clotting disorders, and Alzheimer’s disease, among others.<\/li>\n
- The human DNA sequence can also help researchers tailor medications to individual genotypes<\/a>. This is called personalized medicine, and it has led to an entirely new field called pharmacogenomics. Pharmacogenomics<\/a>,<\/strong> also called pharmacogenetics, is the study of how our genes affect the way we respond to drugs. You can read more about pharmacogenomics in the Feature section below.<\/li>\n
- The analysis of similarities between DNA sequences from different organisms is opening new avenues in the study of evolution. For example, analyses are expected to shed light on many questions about the similarities and differences between humans and our closest relatives, the nonhuman\u00a0primates.<\/li>\n<\/ul>\n
Ethical, Legal, and Social Issues of the Human Genome Project<\/h2>\n
From its launch in 1990, the HGP proactively established and funded a separate committee to oversee potential ethical, legal, and social issues associated with the project.\u00a0 Some of these possible issues include:<\/p>\n
- \n
- The possible use of the knowledge generated by the project to discriminate against people. There were worries that that employers and health insurance companies would refuse to hire or insure people based on their genetic makeup, for instance, if they had genes that increased their risk of getting certain diseases.<\/li>\n
- The issues surrounding “ownership” of DNA sequences.\u00a0 There have been requests by the both governmental agencies and private companies for patents of certain sequences of human genes called cDNA, although the US Patent Office has rejected all applications.<\/li>\n
- Education of healthcare professionals, policy makers and the public about the complex issues involved in the HGP and what is done with the information acquired from it.<\/li>\n<\/ul>\n
Feature: Human Biology in the News<\/span><\/p>\n
Not everyone responds to medications in the same way. A drug that works well for one person may not be effective\u00a0for\u00a0another. The dose of a drug that cures a disease in one individual may be inadequate for someone else. Some people may experience side effects from a given medication, whereas other people do not. This variation in responses to medications can be due to differences in our genes<\/a>. That’s where the field of pharmacogenetics comes in. News media have hailed it as the “new frontier in medicine.” It certainly seems to hold promise for improving the treatment of patients with pharmaceutical drugs.<\/p>\n
Pharmacogenomics is based on a special kind of genetic testing. It looks for small genetic variations that influence a person’s ability to activate and deactivate drugs. Results of the tests can help doctors choose the best drug and most effective dose for a given patient. Some of the greatest successes of pharmacogenomics have been in\u00a0cancer\u00a0treatment. Many of the drugs that treat cancer need to be activated by the patient’s own\u00a0enzymes. Inherited variations in enzymes may affect how quickly or efficiently the drugs are activated. For example, if a patient’s enzymes break down a particular drug too slowly, then standard doses of the drug may not work very well for that patient. Drugs also must be deactivated to reduce their effects on healthy\u00a0cells. If a patient’s enzymes deactivate a drug too slowly, then the drug may remain at high levels and cause side effects.<\/p>\n
One of the main benefits of pharmacogenomics is greater patient safety. Pharmacogenomic testing may help identify patients who are likely to experience adverse reactions to drugs, so that different, safer drugs can be prescribed. Another benefit of pharmacogenomics is eliminating the trial-and-error approach that is often used to find appropriate medications and doses for a given patient. This saves time and money, as well as improving patient outcomes.<\/p>\n
Because pharmacogenomics is new, some insurance companies do not cover it, and it can be very expensive. Also, not all of the genetic tests are widely available at this point. In addition, there may be ethical and legal issues associated with the genetic testing, including concerns about privacy issues.<\/p>\n
\n\n 5.17 Summary<\/span><\/h1>\n<\/header>\n
\n- \n
- The human genome refers to all of the DNA<\/a> of the human species. It consists of more than 3.3 billion base pairs divided into 20,500 genes <\/a> on 23 pairs of chromosomes<\/a>.<\/li>\n
- The Human Genome Project<\/a> (HGP) was a multi-billion dollar international research project that began in 1990. By 2003, it had sequenced all of the DNA base pairs in the human genome. It also mapped the\u00a0location\u00a0and determined the function of all the genes in the human genome.<\/li>\n
- In 2003, the HGP published the results of its sequence of DNA as a human reference genome. The entire DNA sequence is stored in databases that are available to anyone on the Internet.<\/li>\n
- Sequencing of the human genome is helping researchers better understand\u00a0cancer\u00a0and genetic diseases<\/a>. It is also helping them tailor medications to individual patients, which is the focus of the new field of pharmacogenomics. In addition, it is helping researchers better understand\u00a0human evolution.<\/li>\n
- From its launch in 1990, the HGP established and funded a separate committee to oversee potential ethical, legal, and social issues associated with the project.<\/li>\n<\/ul>\n<\/div>\n<\/div>\n
\n\n\n 5.17 Review Questions<\/span><\/h1>\n<\/header>\n
\n- \n
- Describe the human genome.<\/li>\n
- What is the Human Genome Project?<\/li>\n
- Identify two main goals of the Human Genome Project.<\/li>\n
- What is the reference genome of the Human Genome Project? What is it based on?<\/li>\n
- Explain how knowing the sequence of DNA bases in the human genome is beneficial for molecular medicine.<\/li>\n
- What was one surprising finding of the Human Genome Project?<\/li>\n
- Why do you think scientists didn\u2019t just sequence the DNA from a single person for the Human Genome Project? Along those lines, why do you think it is important to include samples from different ethnic groups and genders in genome sequencing efforts?<\/li>\n
- What is pharmacogenomics?<\/li>\n
- If a patient were to have pharmacogenomics done to optimize their medication, what do you think the first step would be?<\/li>\n
- List one advantage and one disadvantage of pharmacogenomics.<\/li>\n
- Explain how the sequencing of the human genome relates to ethical concerns about genetic discrimination.<\/li>\n<\/ol>\n<\/div>\n<\/div>\n\n
\n 5.17 Explore More<\/span><\/h1>\n<\/header>\n
\n
- The Human Genome Project<\/a> (HGP) was a multi-billion dollar international research project that began in 1990. By 2003, it had sequenced all of the DNA base pairs in the human genome. It also mapped the\u00a0location\u00a0and determined the function of all the genes in the human genome.<\/li>\n
- The human genome refers to all of the DNA<\/a> of the human species. It consists of more than 3.3 billion base pairs divided into 20,500 genes <\/a> on 23 pairs of chromosomes<\/a>.<\/li>\n
- The human DNA sequence can also help researchers tailor medications to individual genotypes<\/a>. This is called personalized medicine, and it has led to an entirely new field called pharmacogenomics. Pharmacogenomics<\/a>,<\/strong> also called pharmacogenetics, is the study of how our genes affect the way we respond to drugs. You can read more about pharmacogenomics in the Feature section below.<\/li>\n
- Knowing the human DNA sequence can help us understand many human diseases. For example, it is helping\u00a0researchers\u00a0identify\u00a0mutations\u00a0linked to different forms of\u00a0cancer<\/a>. It is also yielding insights into the genetic basis of cystic fibrosis, liver diseases, blood-clotting disorders, and Alzheimer’s disease, among others.<\/li>\n
- The analysis of similarities between DNA sequences from different organisms is opening new avenues in the study of evolution. For example, analyses are expected to shed light on many questions about the similarities and differences between humans and our closest relatives, the nonhuman\u00a0primates.<\/li>\r\n<\/ul>\r\n
![Vitruvian_man (black and white copy)<\/a> by](\"https:\/\/commons.wikimedia.org\/wiki\/File:Vitruvian_man.jpg\"){kind=link}
![Human genome_bookcase<\/a> by](\"https:\/\/commons.wikimedia.org\/wiki\/File:Wellcome_genome_bookcase.png\"){kind=link}