Ethical issues in medical genetics

INTRODUCTION

Ethical issues in medical practice tend to arise in every branch of medicine. They are important in medical genetics and need careful consideration, since the science of genetics was once blamed to be the practice of eugenics. The word eugenics, was first introduced by Galton. It is defined as the science of improving a race or breed by mating individuals with desired characteristics. In negative eugenics, the aim is to eliminate extreme heritable mental and physical defects. Positive eugenics is to increase the number of so called better individuals. This approach is involved in agriculture in plant and animal breeding where desirable characters can be added or removed. The application of the same principles in humans is considered to be a violation of human rights. Genetic testing and counselling was considered to be an attempt to improve the species through selective breeding. In spite of this, advancement in the field of genetics is improving the quality of life in the affected and its use in preventing life threatening and crippling diseases, is being accepted now. Genetic diagnosis concerns not only the patient, but has an effect on the immediate family as well as on the community. The results of the tests and decisions often lead to termination of a pregnancy and may stigmatise a person for not having the right genes. Ethical issues involve moral questions and dilemmas. It is the responsibility of a geneticist to communicate all factual knowledge to the patient or family, who can on the basis of this information make a personal choice. It is essential that a counsellor at all times should offer counseling that is nondirective. What is right for one family may not be right for another, and the decision made by a family should be respected.

Principles of imparting information

Informed Written Consent

The informed consent should include details of the risk and technical limitations of the procedure involved in the laboratory as well as the clinical (prenatal diagnostic) procedures. The written consent protects the physician as well, as all the procedures have been thoroughly explained to the patient.

Informed Non-directive Choice

In this, the patient is given complete knowledge about all the available options and consequences of not doing the test. The patient should be given sufficient time to make a decision.

Confidentiality

Confidentiality is to be maintained in all cases and at all the costs. No information should be divulged to even the nearest relatives unless the patient so requests. All results should be discussed jointly with the couple. Failing to do this can create a misunderstanding in the members of the family, as a single member collecting all the information may not pass it on to the related members in the appropriate fashion.

Autonomy

Autonomy involves choosing a course of action as per one’s decision without constraints from others.

Potential areas of ethical concern

Certain areas in medical genetics pose ethical problems, and these include prenatal diagnosis, population screening, family screening, predictive testing and research.

Prenatal Diagnosis

Prenatal diagnosis is now available for a wide variety of structural abnormalities, which can be detected by an ultrasound examination. Other genetic disorders like biochemical, molecular and cytogenetic disorders can be detected by various laboratory tests. When the results of such tests are abnormal, patients may opt to terminate pregnancies, knowing the risk of a serious handicap in the child if the pregnancy is continued. The patient undergoing the test needs to be precisely told what to expect from the test. A laboratory test is done to rule out a specific defect only and no other defects can be ruled out. There is usually a misconception in the patient’s mind as to whether the test can rule out almost any birth or genetic defect. This needs to be explained to the patient before any test is undertaken. Termination of pregnancy for the selection of the sex of an unborn child is legally prohibited in India under the prenatal diagnostic Technique (Regulation and Prevention of Misuse) Act 1994.

Population Screening

Population screening programmes for carrier detection may be carried out in certain populations with a high risk for certain autosomal recessive disorders. In autosomal recessive conditions both the partners have to be carriers in order to transmit the disease to the progeny. Carrier testing in individuals at risk for a particular disease in a population may be carried out, at the request of the individuals in question.

Screening can be carried out for thalassaemia, Tay Sach’s disease and cystic fibrosis in the appropriate populations.

Newborn screening programmes when implemented are extremely important in the prevention of mental and growth retardation in some metabolic conditions.

Family Screening

During the process of genetic counseling and testing, certain genetic conditions are accidentally picked up, like a carrier of a balanced translocation or a life threatening X-linked recessive disorder where other family members are at risk. In such an event, screening tests are recommended for the family. The time for the affected individual to deal with the situation should be provided.

Predictive Testing

The developments of direct mutation analysis by various molecular techniques have opened up an opportunity to diagnose many genetic disorders of adult onset. Huntington’s disease, adenomatous polyposis, and familial breast cancer are examples of such disorders. Predictive testing in a child is to be done only if requested by the parents. It is justified if it is going to help in the long-term management of a child e.g. in familial hypercholesterolaemia predictive testing can help in dietary management from an early age.

It is commonly believed that any genetic condition for which predictive testing is available but is not useful in management should not be carried out till the child attains maturity to understand it and makes an informed decision.

Another example of predictive testing is a complex one and such a situation can arise in Huntington’s disease (HD). A young man may request predictive testing on the basis of his paternal grandfather being affected with HD. His test results may have the following implication: If the son is found to carry a mutation, his untested father who is not otherwise keen on knowing his status would know that he carries the mutation and has passed on the mutation to his son, since HD is an autosomal dominant disorder. These situations are difficult to handle. Here an anxious adult gets a priority over the parent and has the right to know. Confidentiality is to be strictly maintained and the status of the son should not be divulged to anyone but the patient himself.

Predictive testing leads to yet another complex situation for the purposes of Medical Insurance Companies may deny insurance on the basis of predisposition to genetic disease. The insurance companies can ask (in indicated cases) for the results of predictive testing but cannot demand the test. The companies however feel that they should either offer low sum insurances or high premiums. The issues are insoluble.

Gene Therapy

With advances in molecular biology, it possible to treat genetic diseases using gene therapy. Gene therapy has been successfully carried out for severe combined immune deficiency. In this case the patient or parents of the child with the disease are willing for any therapy, as they know there is no other cure. They are willing to participate in any programme of genetic research where there is hope. The trials in which they participate, are however uncontrolled trials where hazards or benefits are not known. The second aspect is such therapy when applied to the germ-line will be considered a eugenic approach. The current law under which gene therapy is permitted totally prevents germ line therapy. Gene therapy is also not permitted for choosing a particular character like looks, intelligence or other skills. In the United Kingdom, the committee on the ethics of Gene Therapy has recommended all gene therapy programs to be subjected to scrutiny by regional hospitals and ethical committees.

References

Purandarey, H. (2009). Essentials of Human Genetics. Second Edition. Jaypee Brothers Medical Publishers (P) Ltd.