CHAPTER 24 Ethical and Legal Issues in Medical Genetics
Ethics is the branch of knowledge that deals with moral principles, which in turn relate to principles of right, wrong, justice, and standards of behavior. Traditionally, the reference points are based on a synthesis of the philosophical and religious views of well-informed, respected, thinking members of society. In this way, a code of practice evolves that is seen as reasonable and acceptable by a majority, which often forms the basis for professional guidelines or regulations. It might be argued that there are no ‘absolutes’ in ethical and moral debates. In complex scenarios, in which there may be competing and conflicting claims to an ethical principle, practical decisions and actions often have to be based on a balancing of duties, responsibilities, and rights. Ethics, like science, is not static but moves on, and in fact the development of the two disciplines is closely intertwined.
Ethical issues arise in all branches of medicine, but human genetics poses particular challenges because genetic identity impinges not just on an individual, but also on close relatives and the extended family, as well as society in general. In the minds of the general public, clinical genetics and genetic counseling can easily be confused with eugenics—defined as the science of ‘improving’ a species through breeding. It is important to stress that the modern specialty of clinical genetics has absolutely nothing in common with the appalling eugenic philosophies that were practiced in Nazi Germany and, to a much lesser extent, elsewhere in Europe and the United States between the two world wars. Emphasis has already been placed on the fundamental principle that genetic counseling is a non-directive and non-judgmental communication process whereby factual knowledge is imparted to facilitate informed personal choice (see Chapter 17). Indeed, clinical geneticists have been pioneers in recent times in practicing and promoting non-paternalism in medicine, and 5% of the original budget for the Human Genome Project was set aside for funding studies into the ethical and social implications of the knowledge gained from the project. Coercion and eugenics certainly have no place in modern medical genetics.
General Principles
The time-honored four principles of medical ethics that command wide consensus are listed in Box 24.1. Developed and championed by the American ethicists Tom Beauchamp and James Childress, these principles provide an acceptable framework, although close scrutiny of many difficult dilemmas highlights limitations in these principles and apparent conflicts between them. Everyone involved in clinical genetics will sooner or later be confronted by complex and challenging ethical situations, some of which pose particularly difficult problems with no obvious solution, and certainly no perfect one. Just as patients need to balance risks when making a decision about a treatment option, so the clinician/counselor may need to balance these principles one against the other. A particular difficulty in medical genetics can be the principle of autonomy, given that we all share our genes with our biological relatives. Individual autonomy needs sometimes to be weighed against the principle of doing good, and doing no harm, to close family members.
Box 24.1
Fundamental Ethical Principles
The Beauchamp and Childress framework of ethical principles is, unsurprisingly, not the only one in use and others have developed them into practical approaches. These include the Jonsen framework (Box 24.2) and the more detailed scheme developed by Mike Parker of Oxford’s Ethox Centre (Box 24.3), which builds on previous proposals. Taken together, these provide a practical approach to clinical ethics, which is an expanding discipline in health care.
Box 24.2
The Jonson Framework
a Practical Approach to Clinical Ethics
Box 24.3
The Ethox Centre Clinical Ethics Framework (Mike Parker)
Informed Consent
A patient is entitled to an honest and full explanation before any procedure or test is undertaken. Information should include details of the risks, limitations, implications, and possible outcomes of each procedure. In the current climate, with respect to full information and the doctor-patient contract, some form of signed consent is increasingly being obtained for every action that exposes the patient—access to medical records, clinical photography, genetic testing, and storage of DNA. In fact, there is no legal requirement to obtain signed consent for taking a blood test from which DNA is extracted and stored. The issue was addressed by the UK Human Tissue Act 2004. According to the act, DNA does not constitute ‘human tissue’ in the same way as biopsy samples or cellular material, for which formal consent is required, whether the tissue is from the living or the dead. The act does require that consent is formally obtained where cellular material is used to obtain genetic information for another person. In a clinical setting, this must be clearly discussed and documented.
In clinical genetics, many patients who are candidates for clinical examination and genetic testing are children or individuals with learning difficulties who may lack capacity to grant informed consent. Furthermore, the result of any examination or test may have only a small chance of directly benefiting the patient but is potentially very important for family members. Here the law is important. In England and Wales, the Mental Capacity Act of 2005 came into effect in 2007 and applies to adults aged 16 and older. It replaced case law for health (and social) care and there is a legal duty to use the legislation and apply the ‘Test for Capacity’ (Box 24.4) for any relevant decision for people who lack capacity. Decisions must take into account the ‘best interests’ of the patient, but can also embrace the wider interests that relate to the family. In England and Wales, the law allows for an appropriate person appointed by the Court of Protection to act on their behalf, whereas in Scotland it is legally permitted for certain designated adults, including family members, to give consent (or refuse) on behalf of a person lacking capacity.
Box 24.4
Mental Capacity Act, 2005, England and Wales (Outline)—Principles, Definition, and Test for Capacity
Ethical Dilemmas in the Genetic Clinic
Prenatal Diagnosis
Many methods are now widely available for diagnosing structural abnormalities and genetic disorders during the first and second trimesters (see Chapter 21). The past 35 to 40 years have seen the first real availability of choice in the context of pregnancy in human history. Not surprisingly, the issue of prenatal diagnosis and subsequent offer of termination of pregnancy raises many difficult issues for individuals and families, and raises serious questions about the way in which society views and cares for both children and adults with disability. In the United Kingdom, termination of pregnancy is permitted up to and beyond 24 weeks’ gestation if the fetus has a lethal condition such as anencephaly, or if there is a serious risk of major physical or mental handicap. For good reason, terms such as ‘serious’ are not defined in the relevant legislation, but this can inevitably lead to controversy over interpretation.
The difficulties surrounding prenatal diagnosis can be illustrated by considering some of the general principles that have already been discussed. At the top of the list comes informed consent. In the United Kingdom, approximately 70% of all pregnancies are monitored for the presence of a neural tube defect by measurement of α-fetoprotein in maternal serum at approximately 16 weeks’ gestation (p. 328). In theory, all women undergoing this test should have a full understanding of its potential implications. This also applies to every woman who is offered a detailed ultrasonographic scan to assess fetal anatomy at around 18 to 20 weeks’ gestation (p. 326). For fully informed consent to be obtained in these situations, it is essential that pregnant women should have access to detailed counseling by unhurried staff members who are knowledgeable, experienced, and sympathetic. In practice this may not always be so; indeed, there is evidence that the quality of information provided varies widely.
