P. Kaushal, D. R. Malaviya and A. K. Roy

Genetic counselling is a communication process which deals with human problems associated with the occurrence, or the risk of occurrence of a genetic disorder in a family. This process involves an attempt by one or more appropriately trained persons (genetic counsellors) to help the individual or family to (i) comprehend the medical facts, including the diagnosis, the probable course of the disorder, and the available management, (ii) appreciate the way heredity contributes to disorder, and the risk of recurrence in specified relatives, (iii) understand the options for dealing with the risk of recurrence, (iv) choose the course of action which seems appropriate to them in view of their risk and the family goals and in accordance with the decision, and (v) make the best possible adjustment to the disorder in the affected family member and/or the risk of recurrence of that disorder¹.

Presently, genetic counselling goes beyond mere presentations of risk facts and figures to the prevention and cure of disease, the relief of pain and the maintenance of health. For many disorders it is only possible to give precise recurrence risk conditions and also the order of risk, if exensive family studies are available. Empirical risk figures for some genetic disorders are given in Table 1.

Moral, ethical and philosophical aspects involved in genetic counselling are now emerging as major issues with the development of the application of various diagnostic techniques as amniocentesis and fetoscopy during pregnancy. The consultee and the counsellor are now faced with choices that were once left to fate. Should the genetically defective be aborted? Do parents have a right to produce defective children?

Ethics in prenatal diagnosis and the subsequent abortions

Moral problems arise constantly in social life with the need to resolve conflicts between moral rules and principles to help, regulate and modify desires. For example, when genetic risks are high, the desire to have a healthy child and to avoid danger to oneself, family and society are frequently in conflict. Although 96% of the counselling sessions end well with no or very little chances for the occurrence of the disease, the remaining 4% people in the high risk category are left with three options: (i) prenatal diagnosis and abortion if required, (ii) artificial insemination, and (iii) gene therapy^2,3.

In a broader view, the problems of moral choices can be, in decreasing order of frequency and difficulty as: (i) abortion choices, (ii) problems related to access and distribution of prenatal diagnosis as a service, and (iii) problems related to research on prenatal diagnosis (PND).

Abortion choices

The choice to abort any pregnancy is a moral problem wherever duties to protect the interests of the woman, the foetus and the society are held to be in conflict. Historically some of the earliest conflicts about PND were on the question of whether abortion was its primary goal. One group argued that the destruction of certain foetuses was the morally unacceptable goal of PND outweighing the possibility that it might give reassurance to some at-risk parents that their child would (likely) be unaffected. The other group contended that since PND was done largely with an intent to abort an affected foetus, the practice contradicted the basic purpose of medicinal science.

Abortion choices, after PND present difficulties and dilemmas for several reasons:

 

• the high moral status of the woman carrying the foetus at mid-trimester,
• the wide spectrum of severity in some diagnosable genetic disorders,
• the treatability of some disorders,
• the possibility of diagnosing twins where one is affected and the other healthy,
• claims that the practice of mid-trimester abortion creates a prece-dence for pediatric/euthanasia, selective abortion, and
• decisions about treatment of handicapped newborns.

 

With the involvement of euthenics, i.e. state-of-the-art of treatment for genetic disorders by modification of the environment to allow the genetically abnormal individual to develop
normally and to live a relatively normal life, abortion choices will become predictably more complicated. Euthenics can be applied both medically and socially – examples of phenylketourea (PKU) treatment by diet control, use of human growth hormone for growth disorders, purified factor VIII for haemophilia A, etc., illustrate medical euthenics, while special schools for deaf children, illustrate social euthenics.

Access to PND service

Access to and distribution of PND and genetic services is the central moral problem in medical ethics⁴. Except for Denmark where about 80% of the women who need PND receive it, most of the countries do not meet the true need for services. Further, women who undergo PND belong largely to higher economic groups. Lack of financial resources and adequate planning have restricted the distribution of genetic services in almost every country.

Research on PND

Research in the context of clinical trials raises ethical issues⁵. A randomized clinical trial requires careful consideration because a proven new approach will be withheld by chance, from some in order to compare its advantages and disadvantages. Clinical research in prenatal or perinatal care presents special complexities because the foetus, as well as the pregnant woman, are the subject of research.

Ethical problems faced by the counsellor

There cannot be a universal model for genetic counselling because counselling is an understanding of a set of facts according to the counsellors’ frame of reference, background in the science of genetics, and previous training and experience in effectively communicating with the consultee. In order to communicate effectively, the counsellor must consider the educational background of the consultee, what to disclose and how to limit the ways in which he can communicate. It has been found that the principal obstacles to the effective use of genetic counselling are emotional conflicts, and lack of knowledge of genetics and biology^2,6.

An equally difficult assignment for the counsellor is presenting his knowledge in an unbiased manner. It is difficult for a counsellor to impart unbiased information because of the consultee’s personal and family history such as parental age, ethnic background, reproductive history, i.e. abortions, stillborn or dead siblings, and the age, sex and health of the living children. This may lead the counsellor to adopt a directive rather than a non-directive approach to genetic counselling⁷. The major difference between directive and non-directive counselling is whether or not the counsellor actively participates or helps the consultees to make a decision. Directive counselling has a positive influence on the consultee’s decision. The non-directive approach involves presentation of the facts in an unbiased manner, leaving the entire responsibility of decision with the consultee. Counsellors can be and have been fooled with respect to certain inherited conditions because of improper measurements and observations and/or because of similar symptoms of many genetic diseases. However, the counsellor probably cannot completely disassociate himself from his own values and present the information in such a way that the recipient is not completely free to make his own judgement^8,9. For example, in interpreting the probability even for a single gene disease, the counsellor, depending on his level of personal emotional involvement in the particular case, may bias or slant the data. The counsellor may not change the truth but his tone, manner of speech and other facial and body gestures can influence the information transfer.
In a case where a counsellor feels that a pregnancy might be best for a family he could say to Mr and Mrs X, ‘there is only one chance in four that your child would be affected. Your chances for a healthy birth are very high, three chances out of four or 75%’. For family Y with these same inherited defect, but a different social history, the counsellor may emphasize more on probable disorder.

During counselling, the counsellor may come across other findings, that may put him in a situation of ethical dilemma. Some of these are foetal sex, findings of questionable or potentially harmful significance, false paternity, etc.

Is there a duty to disclose foetal sex to parents, since this finding is not related to any disease, except in X-linked disorders? Should physicians cooperate with the desire of the parents to know the foetal sex, especially when they have reason to suspect that some parents will misinterpret the indication and seek abortion elsewhere for undesired gender?

Occasionally, disputes arise about
the significance of laboratory findings especially about the true v/s pseudomosaicism or by possibility of contamination by maternal cells. When genuine doubt exists and it is too late to do a repeat procedure, what should the parents be told? Should conflict about findings and interpretations between professionals be revealed to parents? Another example is when sonography suggests an irregularity of the foetal head but the amniotic fluid is normal for alpha-fetoprotein. The issue is whether the disclosure of a finding of probably small significance will result in severe parental anxiety leading to psychological problems.

Another difficult conflict involves males and females with normal phenotypes who are discovered to have XX or XY chromosomal complement, respectively. Should they be told? Will a full biological explanation harm their self-esteem and damage them psychologically?

Medical geneticists learn many family secrets, such as previous abortions, previous abnormal births, and occasional false paternity. The findings can be made after PND of a recessive disorder and testing the carrier parents or in the context of genetic screening after the birth of an affected infant. The putative father believes that he must be a carrier, but tests are negative. The option left is partial or total deception. Should the family be protected from the disruption due to disclosure, with the risk of inappropriate decisions about future child bearing being based on false information? Should actual risk be revealed with no explanation?

Ethical guidance in genetic
counselling

A proposal for guidelines for PND, genetic counselling and screening has been made. The proposal assumes that consensus exists among medical geneticists, obstetricians and parents about some key ethical principles and approaches to difficult choices: (1) Parental autonomy in abortion choices; (2) Non-directive counselling; (3) PND that must be provided when parents need the information to prepare themselves for the birth of a possibly affected child; (4) Practitioners need to disclose to the consultee the risks and benefits of each procedure in PND; (5) Information of XY females and XX males with great care that casts no ambiguity on the patient’s social and phenotypic sexual identity; (6) In case putative father is not the biological father of the foetus, the mother to be informed first to avoid social problems and she may be left to take final decision; (7) Medical geneticists to decide which of the disorders warrants the options of prenatal diagnosis and termination of pregnancy, and (8) Consequences from the above to be evaluated in terms of basic ethical principles, and critical tests of what is best for the individuals, groups and society.

Conclusions

Application of science and scientific principles has two faces. To decide the correct use, man must deal with his conscious, individual and social status and the ethics underlying the applications.

Genetic counselling is a practical method of calculating risk figures, intended for information regarding the unborn, and we ought to use it in an efficient manner but in a direction, which our ethics and morality point to. The decision taken by the parents after the counselling session must leave them satisfied instead of placing them in a state of dilemma.

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1. Miglani, G. S., Sci. Cult., 1986, 52, 292–297.
2. Stine, J. L., Biosocial Genetics, Mc-
   Millan Publications, New York, 1977.
3. Culliton, B. J., Science, 1975, 210, 407.
4. Modell, B., in Fetal Diagnosis During the First Trimester, Academic Press, New York, 1986, pp. 259–274.
5. Chinny Krishna, S., The Hindu, 29 August 1999, p. IV.
6. Clarke, A., Lancet, 1990, 335, 1145–1147.
7. Clarke, A., Lancet, 1991, 338, 988–1001.
8. Super, M., Lancet, 1991, 338, 1266.
9. Morrison, P. J. and Nevin, N. C., Lancet, 1991, 338, 1267.

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P. Kaushal, D. R. Malaviya and A. K. Roy are at Indian Grassland and Fodder Research Institute, Jhansi 284 003, India.