Human Genome Project And Genetic Testing
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Human Genome Project and Genetic Testing
What is Human Genome Project?
It was an international scientific research project with a primary goal to determine the sequence of chemical base pairs which make up DNA and to identify the approximately 25,000 genes of the human genome from both a physical and functional standpoint. The project began in 1990 initially headed by James D. Watson at the U.S. National Institutes of Health. A working draft of the genome was released in 2000 and a complete one in 2003, with further analysis still being published. A parallel project was conducted by the private company Celera Genomics. Most of the sequencing was performed in universities and research centers from the United States, Canada and Britain. The mapping of human genes is an important step in the development of medicines and other aspects of health care.
“Objective”
While the objective of the Human Genome Project is to understand the genetic makeup of the human species, the project also has focused on several other nonhuman organisms such as E. coli, the fruit fly, and the laboratory mouse. It remains one of the largest single investigational projects in modern science. The HGP originally aimed to map the nucleotides contained in a haploid reference human genome (more than three billion).
“Background”
The Project was the culmination of several years of work supported by the United States Department of Energy. Particular in 1984-1986. Due to widespread international cooperation and advances in the field of genomics (especially in sequence analysis), as well as major advances in computing technology, a 'rough draft' of the genome was finished in 2000. In May 2006, another milestone was passed on the way to completion of the project, when the sequence of the last chromosome was published in the journal Nature.
“History”
In 1976, the genome of the virus Bacteriophage MS2 was the first complete genome to be determined, by Walter Fiers and his team at the University of Ghent (Ghent, Belgium). “Shotgun method” - the use of an algorithm that combined sequence information from many small fragments of DNA to reconstruct a genome. (Frederick Sanger, 1980). in 1998, the announcement by the newly-formed Celera Genomics that it would scale up the shotgun sequencing method to the human genome was greeted with skepticism in some circles. The shotgun technique breaks the DNA into fragments of various sizes, ranging from 2,000 to 300,000 base pairs in length, forming what is called a DNA "library".
“Procedure”
Gel Electrophoresis
It is a technique used for the separation of deoxyribonucleic acid, ribonucleic acid, or protein molecules using an electric current applied to a gel matrix.
HGP in “Progress”
A graphical history of the human genome project shows that most of the human genome was complete by the end of 2003. However, there are a number of regions of the human genome that can be considered unfinished: 1. the central regions of each chromosome, known as centromeres, are highly repetitive DNA sequences that are difficult to sequence using current technology. 2. the ends of the chromosomes, called telomeres, are also highly repetitive, and for most of the 46 chromosome ends these too are incomplete. 3. there are several loci in each individual's genome that contain members of multigene families that are difficult to disentangle with shotgun sequencing methods - these multigene families often encode proteins important for immune functions.
“Goals”
"The ultimate goal of this initiative is to understand the human genome" and "knowledge of the human genome is as necessary to the continuing progress of medicine and other health sciences as knowledge of human anatomy has been for the present state of medicine.“ Another, often overlooked, goal of the HGP is the study of its ethical, legal, and social implications. It is important to research these issues and find the most appropriate solutions before they become large dilemmas whose effect will manifest in the form of major political concerns.
“Benefits”
It is anticipated that detailed knowledge of the human genome will provide new avenues for advances in medicine and biotechnology. Clear practical results of the project emerged even before the work was finished. For example, a number of companies, such as Myriad Genetics started offering easy ways to administer genetic tests that can show predisposition to a variety of illnesses – e.g cancer, cystic fibrosis, etc. . . deeper understanding of the disease processes at the level of molecular biology may determine new therapeutic procedures. is also opening new avenues in the study of the theory of evolution. In the future, HGP could possibly expose new data in disease surveillance, human development and anthropology.
“Estimated Funds”
Originally it was estimated that it would cost around $4 billion but may well cost more.
“Ethical Issues and Criticisms”
HGP is controversial because of the high cost and because many critics believe that sequencing a huge amount of noncoding DNA should have low priority in a time of limited funds for research. It is comparable against other mega-science projects such as the space station or the superconducting supercollider: The high cost is not justified. This big science vs. little science argument maintains that funding such large-scale projects takes scarce resources from researchers who may study certain areas of particular interest more efficiently. Some critics suggest that the ability to diagnose a genetic disorder before any treatment is available does more harm than good because it creates anxiety and frustration. E.g., the mutation in the beta-globin gene that results in sickle cell disease was identified in 1956, but there is no treatment as yet. The lack of a definitive sequence creates uncertainty about the appropriate definition of "normal," which in turn makes the discussion of public policy issues difficult.
Few religious groups in the United States formally have addressed the specific ethical and public policy issues raised by the HGP, although there is active interdenominational discussion of issues related to human genetics in general. Public policy debates are enriched considerably by input from these various groups. Of course, like any other issues HGP is “playing God.”
“Pictured Ideas”
“God’s Response”
Genetic Testing
Genetic testing allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a person's ancestry. It identifies changes in chromosomes, genes, or proteins. It is "the analysis of RNA, chromosomes (DNA), proteins, and certain metabolites in order to detect heritable disease-related genotypes, mutations, phenotypes, or karyotypes for clinical purposes " (Holtzman & Watson 1997). It can provide information about a person's genes and chromosomes throughout life.
“Types”
Newborn screening: Newborn screening is used just after birth to identify genetic disorders that can be treated early in life. Diagnostic testing: Diagnostic testing is used to diagnose or rule out a specific genetic or chromosomal condition. Carrier testing: Carrier testing is used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. Prenatal testing: Prenatal testing is used to detect changes in a fetus's genes or chromosomes before birth. Predictive and presymptomatic testing: Predictive and presymptomatic types of testing are used to detect gene mutations associated with disorders that appear after birth, often later in life. Forensic testing: Forensic testing uses DNA sequences to identify an individual for legal purposes. Research testing: Research testing include finding unknown genes, learning how genes work and advancing our understanding of genetic conditions.
“Sample Procedures”
“Cost”
The cost of genetic testing can range from under $100(£50) to more than $2,000(£1000), depending on the nature and complexity of the test. The cost increases if more than one test is necessary or if multiple family members must be tested to obtain a meaningful result.
“Risk and Limitations”
The physical risks associated with most genetic tests are very small, particularly for those tests that require only a blood sample or buccal smear but The procedures used for prenatal testing carry a small but real risk of losing the pregnancy (miscarriage) because they require a sample of amniotic fluid or tissue from around the fetus. Many of the risks associated with genetic testing involve the emotional, social, or financial consequences of the test results. People may feel angry, depressed, anxious, or guilty about their results. In some cases, genetic testing creates tension within a family because the results can reveal information about other family members in addition to the person who is tested. Genetic testing can provide only limited information about an inherited condition. The test often can't determine if a person will show symptoms of a disorder, how severe the symptoms will be, or whether the disorder will progress over time. Many people are also concerned about the privacy implications of genetic testimony. In the United States, federal law requires that this kind of medical information to be kept confidential.
“Ethical Issues and Criticisms”
Information from genetic testing can affect the lives of individuals and their families. There are 3 main issues concerned about genetic testing: 1. Privacy - the rights of individuals to maintain privacy. Some genetic tests are required or strongly encouraged for developing fetuses and newborn babies. If an infant is found to be a carrier or likely to develop or be affected by an inherited disease, these findings may affect the future employability or insurability of the individual. 2. Informed consent - obtaining permission to do genetic testing. One must have knowledge of the risks, benefits, effectiveness, and alternatives to testing in order to understand the implications of genetic testing. 3. Confidentiality - acknowledgment that genetic information is sensitive and access should to limited to those authorized to receive it.
“Pictured Thoughts”
“FAQ’s”
“Are genetic tests reliable and interpretable by the medical community?” “Do people's genes make them behave in a particular way?” “Will HGP deliver a great impact in improving the human life?” “Who owns and controls genetic information?” “How do we as a society balance current scientific limitations and social risk with long-term benefits?”
END Prepared by: Barron, Emmanuel John V. Q3A *(Words/Phrases/Sentences w/c are bold & has black font represent main ideas)
What is Human Genome Project?
It was an international scientific research project with a primary goal to determine the sequence of chemical base pairs which make up DNA and to identify the approximately 25,000 genes of the human genome from both a physical and functional standpoint. The project began in 1990 initially headed by James D. Watson at the U.S. National Institutes of Health. A working draft of the genome was released in 2000 and a complete one in 2003, with further analysis still being published. A parallel project was conducted by the private company Celera Genomics. Most of the sequencing was performed in universities and research centers from the United States, Canada and Britain. The mapping of human genes is an important step in the development of medicines and other aspects of health care.
“Objective”
While the objective of the Human Genome Project is to understand the genetic makeup of the human species, the project also has focused on several other nonhuman organisms such as E. coli, the fruit fly, and the laboratory mouse. It remains one of the largest single investigational projects in modern science. The HGP originally aimed to map the nucleotides contained in a haploid reference human genome (more than three billion).
“Background”
The Project was the culmination of several years of work supported by the United States Department of Energy. Particular in 1984-1986. Due to widespread international cooperation and advances in the field of genomics (especially in sequence analysis), as well as major advances in computing technology, a 'rough draft' of the genome was finished in 2000. In May 2006, another milestone was passed on the way to completion of the project, when the sequence of the last chromosome was published in the journal Nature.
“History”
In 1976, the genome of the virus Bacteriophage MS2 was the first complete genome to be determined, by Walter Fiers and his team at the University of Ghent (Ghent, Belgium). “Shotgun method” - the use of an algorithm that combined sequence information from many small fragments of DNA to reconstruct a genome. (Frederick Sanger, 1980). in 1998, the announcement by the newly-formed Celera Genomics that it would scale up the shotgun sequencing method to the human genome was greeted with skepticism in some circles. The shotgun technique breaks the DNA into fragments of various sizes, ranging from 2,000 to 300,000 base pairs in length, forming what is called a DNA "library".
“Procedure”
Gel Electrophoresis
It is a technique used for the separation of deoxyribonucleic acid, ribonucleic acid, or protein molecules using an electric current applied to a gel matrix.
HGP in “Progress”
A graphical history of the human genome project shows that most of the human genome was complete by the end of 2003. However, there are a number of regions of the human genome that can be considered unfinished: 1. the central regions of each chromosome, known as centromeres, are highly repetitive DNA sequences that are difficult to sequence using current technology. 2. the ends of the chromosomes, called telomeres, are also highly repetitive, and for most of the 46 chromosome ends these too are incomplete. 3. there are several loci in each individual's genome that contain members of multigene families that are difficult to disentangle with shotgun sequencing methods - these multigene families often encode proteins important for immune functions.
“Goals”
"The ultimate goal of this initiative is to understand the human genome" and "knowledge of the human genome is as necessary to the continuing progress of medicine and other health sciences as knowledge of human anatomy has been for the present state of medicine.“ Another, often overlooked, goal of the HGP is the study of its ethical, legal, and social implications. It is important to research these issues and find the most appropriate solutions before they become large dilemmas whose effect will manifest in the form of major political concerns.
“Benefits”
It is anticipated that detailed knowledge of the human genome will provide new avenues for advances in medicine and biotechnology. Clear practical results of the project emerged even before the work was finished. For example, a number of companies, such as Myriad Genetics started offering easy ways to administer genetic tests that can show predisposition to a variety of illnesses – e.g cancer, cystic fibrosis, etc. . . deeper understanding of the disease processes at the level of molecular biology may determine new therapeutic procedures. is also opening new avenues in the study of the theory of evolution. In the future, HGP could possibly expose new data in disease surveillance, human development and anthropology.
“Estimated Funds”
Originally it was estimated that it would cost around $4 billion but may well cost more.
“Ethical Issues and Criticisms”
HGP is controversial because of the high cost and because many critics believe that sequencing a huge amount of noncoding DNA should have low priority in a time of limited funds for research. It is comparable against other mega-science projects such as the space station or the superconducting supercollider: The high cost is not justified. This big science vs. little science argument maintains that funding such large-scale projects takes scarce resources from researchers who may study certain areas of particular interest more efficiently. Some critics suggest that the ability to diagnose a genetic disorder before any treatment is available does more harm than good because it creates anxiety and frustration. E.g., the mutation in the beta-globin gene that results in sickle cell disease was identified in 1956, but there is no treatment as yet. The lack of a definitive sequence creates uncertainty about the appropriate definition of "normal," which in turn makes the discussion of public policy issues difficult.
Few religious groups in the United States formally have addressed the specific ethical and public policy issues raised by the HGP, although there is active interdenominational discussion of issues related to human genetics in general. Public policy debates are enriched considerably by input from these various groups. Of course, like any other issues HGP is “playing God.”
“Pictured Ideas”
“God’s Response”
Genetic Testing
Genetic testing allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a person's ancestry. It identifies changes in chromosomes, genes, or proteins. It is "the analysis of RNA, chromosomes (DNA), proteins, and certain metabolites in order to detect heritable disease-related genotypes, mutations, phenotypes, or karyotypes for clinical purposes " (Holtzman & Watson 1997). It can provide information about a person's genes and chromosomes throughout life.
“Types”
Newborn screening: Newborn screening is used just after birth to identify genetic disorders that can be treated early in life. Diagnostic testing: Diagnostic testing is used to diagnose or rule out a specific genetic or chromosomal condition. Carrier testing: Carrier testing is used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. Prenatal testing: Prenatal testing is used to detect changes in a fetus's genes or chromosomes before birth. Predictive and presymptomatic testing: Predictive and presymptomatic types of testing are used to detect gene mutations associated with disorders that appear after birth, often later in life. Forensic testing: Forensic testing uses DNA sequences to identify an individual for legal purposes. Research testing: Research testing include finding unknown genes, learning how genes work and advancing our understanding of genetic conditions.
“Sample Procedures”
“Cost”
The cost of genetic testing can range from under $100(£50) to more than $2,000(£1000), depending on the nature and complexity of the test. The cost increases if more than one test is necessary or if multiple family members must be tested to obtain a meaningful result.
“Risk and Limitations”
The physical risks associated with most genetic tests are very small, particularly for those tests that require only a blood sample or buccal smear but The procedures used for prenatal testing carry a small but real risk of losing the pregnancy (miscarriage) because they require a sample of amniotic fluid or tissue from around the fetus. Many of the risks associated with genetic testing involve the emotional, social, or financial consequences of the test results. People may feel angry, depressed, anxious, or guilty about their results. In some cases, genetic testing creates tension within a family because the results can reveal information about other family members in addition to the person who is tested. Genetic testing can provide only limited information about an inherited condition. The test often can't determine if a person will show symptoms of a disorder, how severe the symptoms will be, or whether the disorder will progress over time. Many people are also concerned about the privacy implications of genetic testimony. In the United States, federal law requires that this kind of medical information to be kept confidential.
“Ethical Issues and Criticisms”
Information from genetic testing can affect the lives of individuals and their families. There are 3 main issues concerned about genetic testing: 1. Privacy - the rights of individuals to maintain privacy. Some genetic tests are required or strongly encouraged for developing fetuses and newborn babies. If an infant is found to be a carrier or likely to develop or be affected by an inherited disease, these findings may affect the future employability or insurability of the individual. 2. Informed consent - obtaining permission to do genetic testing. One must have knowledge of the risks, benefits, effectiveness, and alternatives to testing in order to understand the implications of genetic testing. 3. Confidentiality - acknowledgment that genetic information is sensitive and access should to limited to those authorized to receive it.
“Pictured Thoughts”
“FAQ’s”
“Are genetic tests reliable and interpretable by the medical community?” “Do people's genes make them behave in a particular way?” “Will HGP deliver a great impact in improving the human life?” “Who owns and controls genetic information?” “How do we as a society balance current scientific limitations and social risk with long-term benefits?”
END Prepared by: Barron, Emmanuel John V. Q3A *(Words/Phrases/Sentences w/c are bold & has black font represent main ideas)
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