Biomedical ethics: genetics
Pierre Mallia looks at the ethics behind genetic advances and explains what all the fuss is about
Debates about the ethics of genetics often lead us to think that we are talking about something that goes on in a laboratory. The word "engineering" is subconsciously linked to people in white coats ready to engineer people with more muscle power or a better brain. Although these scenarios seem a distant possibility, research is looking at improving genes and curing genetic defects. Although most medical conditions have a genetic basis, curing diseases genetically is beyond the scope of this article. More pressing issues affect us today. The ethical issues mostly lie in the realm of genetic testing and screening.
As for any other test, we distinguish between testing and screening. You test a particular gene of a person; conversely you screen a population or a cohort of it for a particular genetic condition. So, a woman may choose to have a genetic test to see if she is at risk of developing breast cancer. Countries, on the other hand, may screen a population to try to control the penetrance of a genetic trait. Cyprus, for example, started screening couples for thalassaemia trait before they got married. The orthodox church cooperated with the government by requesting a certificate before they took their vows. In this way the number of marriages in which both were heterozygous for thalassaemia was controlled, decreasing the incidence of homozygous individuals. In addition to this, couples who did get married and who were both found to be heterozygous were counselled on how to decrease the chances of having a baby with thalassaemia major (the homozygous condition). This is where ethical problems lie.
Genetic counselling
Although the World Health Organization hailed Cyprus's methods, the counselling couples were given was directive, as opposed to non-directive. Directive counselling guides the patient to take the tests that we want them to. Non-directive counselling means giving patients enough information so that they may make a free and informed choice. This is not always possible. If a couple request a genetic test to check the sex of the child, saying that they already have two boys and wish for a girl, then it may be impossible for the person doing the counselling to remain neutral. "Non-directiveness" is not an absolute rule in genetic counselling.
Genetic counselling must not be confused with the counselling that specialist geneticists do with their clients. These people are usually counselled for a condition which they already have or which their family carries and want to know more about it. Doctors will be doing more and more counselling related to genetic testing for the simple fact that these tests are becoming more common. Doctors, especially family doctors, are numerous enough and better strategically placed to do such counselling. Besides the medical facts, this counselling includes talking to people about the ethical, legal, and social implications of the tests.
Thus a woman who requests a test for breast cancer because she saw a programme on television would definitely need counselling before having the test as she may not appreciate its importance. This is not being paternalistic, rather it empowers people to make informed choices. Patients need to know what treatments or options are available should such a test be positive. And she must be aware of the consequences. People in many countries are not protected by legislation giving them the right to withhold the results of genetic tests from insurance
companies; many people lose insurance for treatment or even screening. Other tests may compromise employment.
With companies investing considerable amounts of money in genetic screening, giving genetic counselling to people for over the counter testing may be difficult. Companies may have their own counsellors, who may be fine for legal purposes but who will be biased. Doctors will need to be conversant in genetics and the surrounding social, ethical, and legal issues.
Are genetic tests special?
Whether genetic tests are a fundamentally different type of test is not agreed. Philosophically, are we our genes (genetic essentialism)? Should doctors consider genetic tests to be like a test for cholesterol? Both sides of the argument have validity, but genetic tests make even legislators uneasy. The convention of the Council of Europe on biomedical issues prohibits genetic tests other than for medical reasons.
The predictive nature of genetic tests and the effects that they may have on others is important. Genetic tests may not reveal any present illnesses but may show us what we are predisposed to. This may negatively affect a patient's quality of life. Informed consent in genetic testing by default implies genetic counselling. Also a genetic test may affect other people. Presymptomatic testing, such as the direct genetic test for Huntington's disease, may create unease in members of the family who do not wish to know. For example, a child whose uncle has Huntington's may want to know his or her own status. It is generally agreed that mature children and young adults, after genetic counselling, can consent to testing. But a positive result may place a considerable psychological burden on the father who is the brother of that uncle. People also have a right not to know. This conflict may only be tackled by versant and professional counsellors, but a doctor should be able to identify potential problems before going ahead with any requests.
Prenatal and antenatal testing
Screening for thalassaemia is an example of prenatal testing. Similarly, someone with a family history of Huntington's may decide to have a test done in order to consider not having children. Prenatal tests can also be done during in vitro fertilisation. Embryos with particular traits can be discarded to give healthier embryos a better chance; this technology is envisaged to grow as does the moral debate around the issue. What will happen when we can test for multiple conditions, allowing couples to choose which embryo they want? This has been dubbed the choice for the perfect baby. If today we accede to couples disregarding embryos based on genetic tests, we could be on a slippery slope. Conversely, should we be playing Russian roulette with couples by leaving the affected embryo with the rest?
Tests can be offered during pregnancy. The advantage of genetic tests is that they can be done earlier and are more certain. Thus a family who know that they are carrying a child with a genetic disorder which runs in their family may be offered abortion. This is legal in some countries but is considered unethical in countries where religious feelings are strong. Religion apart, groups campaigning for disabled people have a lot to say about deciding the outcome for a fetus based on a single test. This one trait will determine whether that person will live or not.
SATURN STILLS/SPL
Amniocentesis: a routine prenatal procedure with ethical dilemmas
Further scope and data protection
The scope of genetic tests goes beyond medical treatment. Imagine genetic enhancement. Suppose we find a genetic cure for dwarfism, should we then also treat short children who are not dwarfs? Should we treat an average height child because he wants to excel in basketball? The answers are not easy if we reject our paternalistic past and include giving people advantages along with prevention in promoting health. Also, rich countries will have more access to such tests, and parents would be under pressure to keep their children competitive.
What about the use of genetic tests for DNA profiling--for example, by police forces. Should doctors be involved? The future holds scope for DNA fingerprinting and some people support having a DNA print on an identity card. If there could be an end to discrimination, perhaps this would be less of an issue. After all, in many countries, even the introduction of identity cards raised eyebrows.
DAVID WHITE/SPL
Fingerprints:there is nowhere to hide
Data protection
Because of the considerable amount of genetic research, doctors are responsible for protecting patients' data. We live in an information age and this has led to data protection acts, which cover medical
information. Genetic information is more sensitive because it is predictive--for example, for insurance companies. Doctors are not necessarily obliged to give away this information unless a patient consents. Although insurance companies feel they have a right to use genetic information to assess risk, it is pointless giving it to them when they cannot compare you with the rest of the population. Risk assessment is only fair if you have access to everybody's genetic information.
Also, companies may request genetic databases for research on populations. Usually there is no problem so long as the information has been rendered anonymous. But should we still obtain the consent from people if their DNA is to be used once they cannot be identified? If the scope of the consent given is broadened to other types of experiments, then an individual has an argument for not allowing his or her DNA to be used for experiments to which they have a moral objection, even though the person will not be identified.
Pierre Mallia family doctor and lecturer in family medicine and biomedical ethics, Faculty of Medicine and Surgery, University of Malta
Email: pmallia@synapse.net.mt
studentBMJ 2003;11:307-348 September ISSN 0966-6494
- Harper PS, Clarke AJ. Genetics, society and clinical practice, Oxford: Bios Scientific, 1997
- McGee G. The perfect baby: a pragmatic approach to genetics. New York: Rowman and Littlefield, 1997
- British Medical Association. Human genetics: choice and responsibility. Oxford: Oxford University Press, 1998
- Virtual genetic counselling: a European perspective on the role of information technology in genetic counselling. In: Parker M, ed. Ethics and community in the health care profession. London: Routledge, 1999
