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ETHICS AND GENETICS

 

M.Tevfik DORAK

 

Bioethics is the study of moral issues in the fields of medical treatment and research. Biomedical ethics is not a new branch. Hippocrates, the Greek physician, is not only the father of modern medicine, but also of medical ethics. About 24 centuries ago, he said physicians should not give poisons to patients and should advocate for the patient's interest. There was no consensus then either. Hippocrates opposed abortion while Pluto was in favor of it. Today, every new biomedical development, such as in vitro fertilization, organ or bone marrow transplantation from a living relative, genetic modifications of all sorts bring about dilemmas and conflicting opinions. One difference today from Pluto's time is that economic considerations are taken into account too.

            Following the discovery of the cystic fibrosis gene CFTR, a rush by the public to get genetic testing done was expected but this did not happen. A survey of 20,000 people showed that people are not interested in knowing their genetic make-up unless they have a relative with a genetic disease or they are involved in a pregnancy. It appears that insurance companies and employers are more interested in such information for obvious reasons. This is where one of the greatest ethical conflicts of genetic revolution starts. In a recent review (1999), the following guidelines for genetic testing of CFTR mutations are drawn up: Genetic testing for CFTR should be offered to adults with a positive family history of CFTR, to partners of people with CF, to couples currently planning a pregnancy, and to couples seeking prenatal care. The panel does not recommend offering CFTR genetic testing to the general population or newborns. Comprehensive educational programs targeted to health care professionals and the public should be developed using input from people living with CF and their families and from people from diverse racial and ethnic groups. Additionally, genetic counseling services must be accurate and provide balanced information to afford individuals the opportunity to make autonomous decisions. Every attempt should be made to protect individual rights, genetic and medical privacy rights, and to prevent discrimination and stigmatization. It is essential that the offering of CFTR carrier testing be phased in over a period to ensure that adequate education and appropriate genetic testing and counseling services are available to all persons being tested (NIH Consensus Development Conference Statement: Genetic Testing for Cystic Fibrosis, Arch Intern Med 1999).

            The ongoing Human Genome Project (HGP) has spared 5% of its budget for investigations into ethical, legal, and social issues of its findings. This unusual but well justified event in the history of science shows how great the implications of the forthcoming findings will be. The aim is to benefit from the findings of HGP rather than causing social disruption. Today, there are about 2,000 professional medical ethicists in the USA, coming from academic disciplines as law, medicine, philosophy, political science and theology.

            Perhaps the most popularized ethical question in genetics is eugenics. In the past, numerous discussions have taken place for marriage laws, sterilization and immigration regulations in view of the principles of eugenics. The new genetic technology is likely to initiate similar discussions. In this respect, cloning and germ cell therapy are the most likely candidates to ignite the hottest debates. These two techniques are currently not allowed to be used in humans.

            Currently, in some countries and in some states of the USA, legislation exists to regulate genetic testing, genetic screening, counseling, and discrimination in employment and insurance matters against individuals with genetic disorders. The California Hereditary Disorders Act of 1990 is an example. It regulates access to genetic services, confidentiality of genetic information, discrimination against affected individuals and carriers, the voluntary nature of screening programs, the reproductive rights of those at risk of passing a genetic disorder to their offspring, and professional and public education programs about genetics. This law establishes the basic elements of genetic testing: autonomy, confidentiality, privacy and equity. Ideally, all screening (including newborns) should be voluntary (informed choice), and should be done only after informed consent (very similar to the Nuremberg Code). The person should be able to choose not to proceed any more at any stage of the procedures. The results should remain confidential and anonymous, therefore should not be used to discriminate anybody on any grounds. Potential areas of conflict in clinical genetics include genetic testing in children, the distinction between research and service, and the rights of the individual versus the rights of the extended family, the doctor and the society. Think about the implications for the members of the family when somebody is discovered to have the Huntington's disease gene, or storing DNA samples from convicted criminals, volunteer blood donors, and all newborns!

            In principle, there is no serious objection to somatic cell gene therapy as this is no different from the medical treatment of an individual either by medicine, surgery or transplantation. The potential problem is its use for 'enhancement', in other words, for cosmetic purposes. The opponents of this objection could easily ask about the proportion of cosmetic surgery performed in plastic surgery departments or the ratio of these to life-saving plastic surgical operations. When it comes to germ cell gene therapy, the potential use of it for eugenics creates a problem. This is because, any change in the germ cell will be passed on to the following generations forever. When it is used for medical purposes, i.e., to eliminate a disease gene and to replace it with the correct version, this is in principle acceptable but isn't this (negative) eugenics? However harsh it sounds, isn't it the diseases that have played major roles in the evolution of species? Human germ cell therapy is currently banned because of the fears of positive eugenics.

            Patenting life forms and newly found genes is another hot topic brought about by the HGP. In a landmark 1980 ruling, the US Supreme Court decided that Dr Chakrabarty (see Gene Therapy) could patent a bacterium that digests crude oil. The Court said that the intent of Congress in establishing patent law was that patents should cover anything made by human hand. Since then, hundreds of patents have been issued for genetically engineered organisms, mainly bacteria. In 1986, the US Department of Agriculture approved the sale of the first living genetically altered organism--a virus, used as a pseudorabies vaccine, from which a single gene had been removed. Since then several hundred patents have been awarded for genetically altered bacteria and plants. In 1987, the Patent Office ruled to issue patents for non-human, multicellular organisms including animals produced by genetic engineering (not by natural breeding!). The examples include genetically engineered pigs by germ cell gene therapy to have human growth hormone gene to grow up faster, a goat and sheep chimera called geep, and many transgenic mice. Humans modified genetically cannot be patented but the techniques can be. By extension, the Patent Office also issues patents for genes. Among the patent holders, an interesting one is the NIH itself. One day, it may be possible that large biotechnology companies may hold the patents for all livestock genomes.

            Like all great moral issues, there will never be a permanent consensus in bioethics. Each society will reach a temporary solution that seems to make sense in their times. One should remember that in 1974, recombinant technology was banned in the USA. When five years had elapsed, it was thought to be an appropriate technique to use. Today its use for good causes is enormously popular and economically rewarding.

 

Ethics of Cloning

In vitro fertilization (including those using a donated oocyte), insemination with donor sperm, intracytoplasmic sperm injection (ICSI) are the recent techniques which enable individuals who would otherwise could not have a child to have one. These means of having a child have been widely accepted without any major ethical concern despite that a man with abnormal sperm and a homosexual woman can now reproduce just like anybody else. As a potential use of cloning, what if a lesbian couple wants to have a baby using one's oocyte and a nucleus from the other? Cloning creates a clone of one parent (the source of the nucleus), but not a shared descendant of both the father and mother (except the contribution of the mitochondrial genome by the female). It can be predicted that in some cases public opinion for cloning may be favorable. For example, if the male partner is sterile, it may be acceptable for this couple to have a baby through cloning. The mother would still contribute with her mitochondrial genome, intrauterine influences and subsequent nurture. From now on, the technical barrier has been overcome and it is the moral barrier that tops the agenda in cloning research. Would cloning be used to create second-class citizens or would it revive slavery? If so, should it still be banned considering the fact that these have been achieved without using high technology anyway? There are also objections to human cloning in terms of the social prejudice such children will have to face. But, is it going to be any different from what already happens to children of mixed-race couples? For therapeutic abortion, on the other hand, there are worries that an embryo is being 'killed' to treat somebody. Is it really a case that an unimplanted conceptus (that can only be called a pre-embryo) can be seen as a living subject? There is a philosophical point of view that creating human life for the sole purpose of preparing therapeutic material would not conform to the dignity of life principle. In the UK, currently, the use of human eggs is illegal if the intent is to create an embryo even only for cell replacement (therapeutic cloning). In most countries, including USA, legislation does not exist to stop therapeutic cloning. It is then simply a matter of professional ethics. Cloning allows a woman with a mitochondrial DNA-linked disease to have a healthy baby that would be impossible otherwise. What would be the public's reaction to such an attempt? It is clear that there will be medically justified uses of cloning in humans, what is not clear is that if any license is issued for any application of cloning, who is going to draw the line for further applications? Cloning is such a technique that shortcuts the safeguards imposed by sexual reproduction. Even a sterile person can now have a child. Patients with cancer are routinely offered storage of their gametes before they are treated by chemotherapy or radiotherapy after which they would usually become sterile. With cloning, they can have a child anytime. Since cancer has a genetic component, are we not going to keep these genes in the population at higher than ever frequencies by doing so? If eugenics is wrong, is this, the opposite of eugenics, right?

 

Eugenics

The success of artificial breeders in improving the inherited characters of domesticated animals, cultivated plants even microorganisms raised the issue whether the course of the human evolution can also be changed. Eugenics is the false science of improving the quality of the human species through selective breeding. The word eugenics comes from the Greek for good genes. Any policy that is thought by advocates to stimulate the prevalence of 'good genes' is considered eugenic in its effect. Its origin goes back to earlier times. Plato's Republic describes a society in which there is a continuous selection to improve humans through selective breeding. In modern times, the establishment of social Darwinism paved the way for eugenic movements. Modern eugenics relies on the idea that careful planning through selective breeding is the key to improve society. Eugenics supplies a biological or genetic interpretation to its means and aims. If it is a particular race that is to be targeted, the eugenicist will first offer a so-called scientific basis for such a plan. This usually consists of statistical 'evidence' that the race in question is less capable of achievement, more prone to anti-social behavior, or responsible for a prevalent social problem. Most importantly and most of the time wrongly, the eugenicist will insist that this 'inferiority' has genetic basis. In 1900, with the birth of modern genetics together with the belief that humans are the superior species, the interest in improving the human race led to the eugenics movement. There are two basic types of eugenic action:

            1. Negative eugenics emphasizes the restriction on reproduction of unfit types. The idea is to improve the human species by identifying individuals and couples at risk of maintaining and spreading inferior genes and to prevent such persons from reproducing.

            2. Positive eugenics encourages the reproduction of 'high quality' individuals. Very often, however, the identification of 'good' hereditary human traits is a subjective and even political matter.

Many organizations devoted to eugenic purposes arose around the world, but the movement was especially strong in England, the United States, and Germany between 1910 and 1940. From the beginning, the movement was closely associated with a sense of white Anglo-Saxon superiority. Sir Francis Galton (a cousin of Charles Darwin) is the founder of the English eugenics movement. He coined the term eugenics in 'Inquiries into Human Faculty' in 1883 and continued to advocate his ideas until his death in 1911. He had been drawn to the study of human heredity and eugenics by his curiosity by the hereditary genius in his own family. Galton, who was primarily a statistician, founded a eugenics laboratory and established a research scholarship of eugenics at University College, London in 1904. In his will, he provided funds for a chair of eugenics at University College, London University. The fellowship and later the chair at University College were both occupied by Karl Pearson, a brilliant mathematician who helped to create the science of biometry (the statistical aspects of biology). In his book, Hereditary Genius (1869), Galton proposed that a system of arranged marriages between selected men and women would produce a gifted race. In another book, Natural Inheritance (1889), Galton developed statistical methods to the study of man. He was the first to recognize the value of the study of twins for research in heredity. Interestingly, Galton's eugenics movement did not gain wide acceptance, because of the lack of scientific and technical foundation. Moving on the same path after Galton, Pearson felt that the high birth rate of the poor was a threat to civilization. Pearson became the Galton Professor of eugenics at University College in 1911. He shares the blame for the discredit later brought on eugenics in the United States and for making possible the dreadful misuse of the word eugenics in Adolf Hitler's propaganda. The English Eugenics Society, founded by Galton in 1907 as the Eugenics Education Society, opposed Pearson's views but was unable to stop the growing racial discrimination of that time. The Eugenics Society (England) is now known as the Galton Institute.

            In the United States, eugenics exerted considerable influence on popular opinion and was reflected in some state and federal legislation. The American Eugenics Society was founded in 1926 by men who believed that the white race was superior to other races. They even thought that the 'Nordic' white was superior to other whites. They thought of races as discrete groups. They did not know that all races are mixtures of many types, the distribution of genes among the races varying in proportions rather than in kind. The American Eugenics Society promoted the idea that the upper classes had superior hereditary qualities that justified their being the ruling class. The result of these activities was the passage of the Immigration Act of 1924 (the Johnson Act), which limited quota immigrants to about 150,000 annually. It was a coalition of eugenicists and some big-business interests who pushed through the Johnson Act which limited immigration into the United States from eastern European and Mediterranean countries. Later, it became clear that the material the eugenists had presented to congressional hearings had little scientific foundation.

            Another consequence was the sterilization laws. Between 1907 and 1943, 30 states in the USA passed sterilization laws. By 1935, sterilization laws had also been passed in Denmark, Switzerland, Germany, Norway, and Sweden. Most of these laws provided for the voluntary or compulsory sterilization of insane, mentally retarded, epileptic, criminal and sexually deviant people. In California, sterilizations averaged more than 350 cases per year, with a total of 9,931 by 1935. Laws were also passed restricting marriages between members of various racial groups. The American Society survives and flourishes to the present day, although, since a name change in 1973, it has been known as the Society for the Study of Social Biology. The new name is not believed to reflect an alteration in its goals. Unquestionably the greatest abuse of the concept of eugenics took place in Hitler's Germany, when as a rationale for producing a 'master race', the Nazis murdered millions of people considered to have inferior genes. Eugenicists were embarrassed by Hitler. After the war, they instituted various strategies to cover up the collaboration that had existed between German, American, and English eugenicists. For example, they adopted a policy of 'crypto-eugenics' and founded cover organizations like the Population Council and the International Planned Parenthood Federation to carry out their aims.

            After the German Nazis used eugenics against Jews, Gypsies, the insane, and homosexuals, the assumptions of eugenists came under sharp criticism which led to the discreditation of eugenics. Recent developments in the diagnosis and treatment of genetic defects have stirred up a eugenics debate within the wider context of medical ethics. Since the 1950s there has been a renewed interest in eugenics. Because certain diseases are now known to be genetically transmitted, many couples choose to undergo genetic screening, in which they learn the chances that their offspring might be affected. The practice of modern genetic counseling is in a way a eugenic activity, in that it attempts to prevent the conception or birth of individuals with most serious forms of maldevelopment who would be burdens to themselves and to their families. This form of negative eugenics identifies individuals and couples at risk of perpetuating genes that lead to heritable diseases and disorders. It is, however, important that information on these risks is given to couples so that they can make informed and personal decisions about reproduction without societal pressure.

            Counterbalancing this trend, however, has been medical progress that enables victims of many genetic diseases to live fairly normal lives and even to reproduce. Genetic surgery, in which harmful genes are altered by direct manipulation, is also being studied. It could obviate eugenic arguments for restricting reproduction among those who carry harmful genes. Such conflicting innovations have complicated the controversy surrounding eugenics. Furthermore, the concept of eugenics tends to ignore the sizable role that environment plays in the establishment of human characteristics. Suggestions for expanding eugenics programs, which range from the creation of sperm banks for the genetically superior to the potential cloning of human beings, have met with vigorous resistance from the public, which often views such programs as unwarranted interference with nature or as opportunities for abuse by authoritarian regimes. Thus, the use of eugenics as happens in modern genetics today is generally acceptable but the potential for the use of the same principle for racist purposes still disconcerts many societies. From this point of view, the situation is similar to the ethical approaches to cloning. Its potential contributions to human health are unquestionable but the possibility exists that once the method is perfected, it can fall into wrong hands.

 

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Further reading

Medical Ethics Resource Guide 

Journal of Medical Ethics, April 1999 issue (devoted to the New Genetics and Ethics)

Nature, 16 Oct 1997, pp.658-663 (Briefing: Bioethics) and 16 Dec 1999, pp.743-746 (The Future of Cloning)

Classic Cases in Medical Ethics: Accounts of Cases That Have Shaped Medical Ethics (Pence & Pence, 1999)

Ethics of Research With Human Subjects: Selected Policies & Resources (Sugerman, 1998)

CMAJ: Bioethics for Clinicians series (28 papers published in 1996 - 2002)

Human Genome Epidemiology e1 (2004): Ch4-Ethical, Legal, and Social Issues in Human Genome Epidemiologic Studies (Beskow LM)

 

Internet Resources

 

Hastings Center (US)   Nuffield Council on Bioethics (UK)

National Research Ethics Service (UK)   MRC Ethics and Research Guidance (UK)

Center for Bioethics at the University of Pennsylvania School of Medicine

The Genetic Revolution: Ethical Issues   Genetics & Ethics 

Belmont Report on Ethical Principles of Research on Human Subjects

Helsinki Declaration by the World Medical Association

NIH BioEthics Guide   BioEthics Resources   NIH Ethics & Genetics  Use of Human Tissue

US Code of Federal Regulations - Title 45/Part 46 - Protection of Human Subjects (45CFR46) - Common Rule

Human Tissue Act 2004 (UK)

NIH Office of Human Subjects Research   

Guidance On The Research Use Of Stored Samples Or Data (item 14) & Informed Consent (item 6)

   NCI: Legal and Ethical Issues

Online IRB Training (CITI)    NIH Protecting Human Research Participant Training (PDF)

National Bioethics Advisory Commission (NBAC): Reports

IRB Guidebook-Ch V: Biomedical and Behavioral Research (1993)

Online Bioethics Course

AJE: Ethical Issues in Human Genome Epidemiology: A Case Study Based on The Japanese American Family Study in Seattle, Washington (Austin MA, 2001)

EJHG: ESHG Recommendations on Patenting and Licensing in Genetic Testing

 

M.Tevfik Dorak, M.D., Ph.D.

 

Last updated on 2 December 2005

Last edited on 18 October 2013

 

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