Human Genetics: Ethics and Issues

Editor: Justin Healey ISBN 978 1 921507 04 5 Year 2009 Price: $20.95		Human Genetics: Ethics and Issues Volume 294, Issues in Society Since the 2003 mapping of the human genome, science has prompted complex challenges over how to maximise the benefit and minimise the harm when implementing rapidly expanding genetic-based knowledge. Are scientific advances being held back from producing miracle cures, or are we letting the genome out of the bottle? This fascinating book explains the fundamentals of human genetics and explores a range of considerations and dilemmas including: the limitations in personal genetic testing for diseases; privacy and the ownership of genetic information; the potential for genetic discrimination; setting restrictions in the application of genetic technologies, e.g. reproductive cloning, stem cell research using embryos, and genetic enhancements; patenting and the commercialisation of bioetchnology products; and forensic DNA databanks. Chapter 1 Ethical Issues in Human Genetics Human genetics and genetic technologies, Some gene facts, Your DNA - dirty deeds done dirt cheap?, Human genome facts, The genome let out of the bottle, What are genetic disorders?, What is gene therapy?, Gene map for synthetic life created in lab, We must look far beyond genome, What are ethics?, Some ethical issues in human genetics, Having a genetic test, Do you really want to know the risk? Perils in dealing with online genetic tests, Genetic discrimination, To Gattaca and beyond, Genetic testing and privacy, Privacy and genetic information, New laws could impact on paternity tests, What is non-consensual genetic testing?, What is the impact of non-consensual genetic testing?, Don't feed the 'patent trolls', Stem cells, cloning and related issues, Ethics of stem cell research, Science's ethical debate nears end. Glossary; Fast Facts; Web Links; Index

		FAST FACTS from this volume
Knowledge of human genetics has increased very rapidly over the last 30 years and new technologies are constantly being developed to explore and understand the information contained within our DNA. A genetic disease or condition is caused by one or more gene changes, which scientists refer to as mutations. A mutation is a permanent change in the DNA code that makes up a gene. Mutations that can be passed on to children are usually inherited from a parent, but some happen for unknown reasons during foetal development. This type of inherited mutation is called a germ line mutation. Mutations also build up in a person’s DNA over their life time (e.g. DNA damage due to sun exposure). These mutations are not passed on to children and are called somatic mutations. Changes to the DNA code do not always lead to health prob-lems. Some mutations occur in regions of the chromosome that do not encode genes. These mutations do not affect the function of genes, but can be used in research studies (e.g. genetic association studies). Genetic testing allows genes to be examined for mutations. This information can be used to work out the chance of a disorder developing for that person in the future or the risk of a genetic disorder occurring in the person’s children. The complete mapping of the 20,000 genes in the human genome was announced in April 2003. About 11,000 genes have been mapped to either one of the numbered chromosomes 1-22 (autosome) or the X or Y sex chromosomes in the nucleus of the cell or to the mitochondria. Of these mapped genes, only about 380 have so far been found to be associated with a genetic condition where the information in the gene is changed in some way. It is only for genes where changes have been identified that DNA direct genetic testing may be available to identity genetic conditions. Research is ongoing to try to understand the role ‘non-coding’ DNA and interactions between genes play in the expression and control of the genetic information. Issues that will con-front the implementation of genomic technologies include the provision of predictive or presymptomatic testing for conditions for which there is currently no treatment, privacy, genetic testing, population screening and establishing and regulating the boundaries. Both environmental and genetic factors have roles in the development of any disease. A genetic disorder is a disease caused by abnormalities in an individual’s genetic material (genome). The four different types of genetic disorders are: (1) single-gene, (2) multifactorial, (3) chromosomal, and (4) mitochondrial. Some of the ethical, legal, and social implications of being diagnosed with a genetic disease include: Are patients being properly informed about the risks and limitations of genetic technology? How does personal genetic information affect an individual and society’s perceptions of that individual? Who owns and controls genetic information? If you are tested for or diagnosed with a genetic disorder and this information becomes a part of your medical record, insurance companies, employers, and other agencies may be able to access this information. Gene therapy is ‘the use of genes as medicine’ involving the transfer of a therapeutic or working copy of a gene into specific cells of an individual in order to repair a faulty gene copy. The technique may be used to replace a faulty gene, or to introduce a new gene whose function is to cure or to favourably modify the clinical course of a condition. Gene therapy is still an experimental discipline and much research remains to be done before this approach to the treatment of condition will realise its full potential. Bioethics is the study of the ethical, social, legal, philosophical and other related issues arising in health care, the biological sciences and from biotechnology. Biotechnology operates in an environment in which past experiences and current norms may be insufficient to guide our moral reasoning to reach clear resolutions.The ever-expanding array of possible applications of modern biotechnology and the often uncertain consequences make it imperative to discuss the implications and issues arising from the science. Some of the ethical issues under discussion include: genetic testing, human cloning, genetically modified (GM) foods, crops and organisms; commercialisation of biotechnology products; and exploring public policy issues. When you are thinking about having a genetic test, you need to decide: whether or not to have the test in the first place; who to tell about the test results; how to live your life with the information provided by the test; how much support you need to deal with the choices you must make, and the way you may have to change your lifestyle. Genetic information can usually only be released with the consent of the individual. There are a few exceptions, such as where release is ordered by the courts for law enforcement purposes. Confidentiality protection extends to family members, and it is up to the individual, not health professionals, to inform their family of the results of any genetic test. Non-consensual genetic testing occurs when bodily samples are taken and genetically tested without the knowledge or consent of the individual from whom they have been obtained. Biomedical technology enables genetic testing to be performed on minute bodily samples. Genetic information may be derived from samples such as hair follicles, saliva left on a glass or cigarette, cheek cells left on a toothbrush and cells deposited on an item of clothing or mucus in a tissue. The combination of powerful biomedical technology and the ability to easily access human genetic samples leaves open the potential for non-consensual genetic testing to occur. There are pros and cons associated with the research and use of all types of stem cells. Which ones should research focus on?The ethical issues surrounding the origin of embryonic cells will always be a sensitive one. There are strict guidelines and legislation regarding any research involving human embryos, but for many, research on adult stem cells is the only acceptable alternative. When considering the various pros and cons for and against the use of each type of stem cell (see p.40), most scientists agree that it is important to continue to pursue research into embryonic stem cells, SCNT, iPS and adult stem cells.

Knowledge of human genetics has increased very rapidly over the last 30 years and new technologies are constantly being developed to explore and understand the information contained within our DNA.
A genetic disease or condition is caused by one or more gene changes, which scientists refer to as mutations. A mutation is a permanent change in the DNA code that makes up a gene. Mutations that can be passed on to children are usually inherited from a parent, but some happen for unknown reasons during foetal development. This type of inherited mutation is called a germ line mutation. Mutations also build up in a person’s DNA over their life time (e.g. DNA damage due to sun exposure). These mutations are not passed on to children and are called somatic mutations.
Changes to the DNA code do not always lead to health prob-lems. Some mutations occur in regions of the chromosome that do not encode genes. These mutations do not affect the function of genes, but can be used in research studies (e.g. genetic association studies).
Genetic testing allows genes to be examined for mutations. This information can be used to work out the chance of a disorder developing for that person in the future or the risk of a genetic disorder occurring in the person’s children.
The complete mapping of the 20,000 genes in the human genome was announced in April 2003. About 11,000 genes have been mapped to either one of the numbered chromosomes 1-22 (autosome) or the X or Y sex chromosomes in the nucleus of the cell or to the mitochondria. Of these mapped genes, only about 380 have so far been found to be associated with a genetic condition where the information in the gene is changed in some way. It is only for genes where changes have been identified that DNA direct genetic testing may be available to identity genetic conditions.
Research is ongoing to try to understand the role ‘non-coding’ DNA and interactions between genes play in the expression and control of the genetic information. Issues that will con-front the implementation of genomic technologies include the provision of predictive or presymptomatic testing for conditions for which there is currently no treatment, privacy, genetic testing, population screening and establishing and regulating the boundaries.
Both environmental and genetic factors have roles in the development of any disease. A genetic disorder is a disease caused by abnormalities in an individual’s genetic material (genome). The four different types of genetic disorders are: (1) single-gene, (2) multifactorial, (3) chromosomal, and (4) mitochondrial.
Some of the ethical, legal, and social implications of being diagnosed with a genetic disease include: Are patients being properly informed about the risks and limitations of genetic technology? How does personal genetic information affect an individual and society’s perceptions of that individual? Who owns and controls genetic information? If you are tested for or diagnosed with a genetic disorder and this information becomes a part of your medical record, insurance companies, employers, and other agencies may be able to access this information.
Gene therapy is ‘the use of genes as medicine’ involving the transfer of a therapeutic or working copy of a gene into specific cells of an individual in order to repair a faulty gene copy. The technique may be used to replace a faulty gene, or to introduce a new gene whose function is to cure or to favourably modify the clinical course of a condition. Gene therapy is still an experimental discipline and much research remains to be done before this approach to the treatment of condition will realise its full potential.
Bioethics is the study of the ethical, social, legal, philosophical and other related issues arising in health care, the biological sciences and from biotechnology. Biotechnology operates in an environment in which past experiences and current norms may be insufficient to guide our moral reasoning to reach clear resolutions.The ever-expanding array of possible applications of modern biotechnology and the often uncertain consequences make it imperative to discuss the implications and issues arising from the science. Some of the ethical issues under discussion include: genetic testing, human cloning, genetically modified (GM) foods, crops and organisms; commercialisation of biotechnology products; and exploring public policy issues.
When you are thinking about having a genetic test, you need to decide: whether or not to have the test in the first place; who to tell about the test results; how to live your life with the information provided by the test; how much support you need to deal with the choices you must make, and the way you may have to change your lifestyle.
Genetic information can usually only be released with the consent of the individual. There are a few exceptions, such as where release is ordered by the courts for law enforcement purposes. Confidentiality protection extends to family members, and it is up to the individual, not health professionals, to inform their family of the results of any genetic test.
Non-consensual genetic testing occurs when bodily samples are taken and genetically tested without the knowledge or consent of the individual from whom they have been obtained. Biomedical technology enables genetic testing to be performed on minute bodily samples. Genetic information may be derived from samples such as hair follicles, saliva left on a glass or cigarette, cheek cells left on a toothbrush and cells deposited on an item of clothing or mucus in a tissue. The combination of powerful biomedical technology and the ability to easily access human genetic samples leaves open the potential for non-consensual genetic testing to occur.
There are pros and cons associated with the research and use of all types of stem cells. Which ones should research focus on?The ethical issues surrounding the origin of embryonic cells will always be a sensitive one. There are strict guidelines and legislation regarding any research involving human embryos, but for many, research on adult stem cells is the only acceptable alternative. When considering the various pros and cons for and against the use of each type of stem cell (see p.40), most scientists agree that it is important to continue to pursue research into embryonic stem cells, SCNT, iPS and adult stem cells.