pp. 445-446 in Bioethics in Asia

Editors: Norio Fujiki and Darryl R. J. Macer, Ph.D.
Eubios Ethics Institute

Copyright 2000, Eubios Ethics Institute All commercial rights reserved. This publication may be reproduced for limited educational or academic use, however please enquire with the author.

F31. Informed consent in pediatric genetic screening

Frank J. Leavitt and Dina Pilpel.

Faculty of Health Sciences, Ben Gurion University of the Negev, Beer-Sheva, Israel.

Screening was defined over 40 years ago as gthe presumptive identification of unrecognized disease or defect by the application of tests, examinations or other procedures which can be applied rapidly to sort out apparently well persons who probably have a disease from those who probably do noth (1). From a screening test we do not get a diagnosis but only a basis for referral for more sophisticated testing.

The screening results in two groups: positives and negatives. In genetic screening, the matter of true and false positive and negative is more complicated than in traditional screening. Among those who test positive some individuals may have a defective gene and may be expected to develop a disease or have already begun to develop the disease even though they may not notice it. Others have a defective gene, but will not develop the disease because they lack psychosocial or environmental cofactors. Still others test positive even though the gene in question is not defective but there was a laboratory error or a fault in the test itself. There are also cases where the person is a carrier but is at no risk of becoming sick. These cases will not be discussed here. The first two of these groups are true positives (TP) for the genetic test, but notice that not all of them are TP for disease prognosis. Therefore, although some of these positives benefit by being informed that they have begun or will begin to be ill, others will be hurt. This can be by being caused unnecessary mental anguish because even though they have a defective gene the disease would not develop anyway. Or it can be because even though they really have a disease the symptoms are so mild that there is little benefit in knowing about it, as in mild cases of Gaucher. Or it can be because although the disease is going to develop there is no known treatment, as in Huntingtonfs Chorea.. Or it can be because the treatment may be perceived as more horrid than the disease itself, as in recommended double mastectomy for healthy young women.

There are also risks and benefits for those who test negative. Some will be happily reassured that they will not get the disease. But for others the reassurance is misleading because although they do not have the genetic defect the disease may be caused by purely environmental factors, or some other gene which is not being tested. More over, inherent in each medical test there is always some likelihood of simple false negatives (FN) because of laboratory or human errors or other limitations of the test.

Although there is little danger in a screening test itself, which might be minimally invasive, a large scale screening programme may be expected to result in a number of people subjected to unnecessary worry, medicalization, or false hopes, or more invasive tests with their resulting risks. Problems of these sorts exist also outside of genetics. In all screening there are known ethical problems with false positives and negatives and even with true positives and negatives. But our concern is with pediatric genetic screening where although large numbers of children may benefit, we can reasonably predict in advance that some will suffer.

Hence the ethical problems, to which we now turn. In weighing the ethics of risking suffering for some in the hopes of benefits for others, we wanted as Israelis to seek guidance from our traditional sources. But the closest discussions which seem to exist have to do with a prohibition of causing the death or suffering of an individual in order to benefit others.

There are, however, some very important differences between the Talmudic example and screening. In screening there seems to be a potential benefit for each participant as well as a potential risk. But the Talmudic discussions refer only to cases where one is considering sacrificing individuals for the sake of the many. In screening as well some may suffer while a great many may benefit. But there are nonetheless some subtle and complicated ethical problems in screening which go beyond this question.

In the first place, unlike examples in traditional Jewish literature, a participant in screening must do so voluntarily. This is especially important because of the potential risks. But the question of informed consent is particularly difficult in pediatrics. We are not sure that the commonly used idea of gsurrogacyh solves the problem. A parentfs decision on behalf of a child might be considered justified in some cases. But let us not fool ourselves. It is not an autonomous decision because autonomy is only what you do yourself.

In the second place, if a child is so young that consent cannot really be informed, no autonomous decision can be made. But do we really want to deny screening to children too young to make autonomous decisions?

But in the third place also a negative decision not to subject the child to any medical procedure is really to make a decision for the child. Denying screening to a child just because of considerations of autonomy may be an equally unethical denial of potential benefits. Paradoxically, both a decision to violate a childfs autonomy and a decision not to violate a childfs autonomy may be equally unethical.

In the fourth place, even when autonomy is present to what extent is it ethical for one to risk danger to oneself even though the benefit may not only be to the community at large but also to oneself? The question is especially salient when one thinks about advising onefs healthy child to participate in a screening programme in the face of the various risks discussed above.

Another set of questions refer to group or body which initiates a screening programme. We are not so naive as to think that medicine can be furthered without the involvement of profit making corporations. But the decision to initiate a screening programme and to initiate publicity which will persuade parents and children to participate must be in the hands of bodies which have the health of the community foremost in mind, such as the not-for-profit sick funds and national health services which still exist in some countries.

Finally, we want to take up the question whether ethics in genetics is really different from ethics in other branches of medicine or in life outside of medicine altogether. Arenft our questions about ethics of risking damage to a few for the good of the many really similar to ethical questions in any realm of life - such as government or manufacturing - where we deal with large populations? And donft similar questions about children7s autonomy arise any time parents make decisions for their children, as in education for example? We are therefore not sure whether bioethics in genetic medicine is really any different from bioethics anywhere.

References

1. Mausner JS, Kramer S. Mausner & Bahn, Epidemiology: An Introductory Text. Philadelphia etc; WB Saunders Co. Second Ed. 1985, pp. 215-216.

2. Shmuel II, xx.

3. Talmud Pesachim xxv; Mishna Trumot viii, 12; Talmud Yerushalmy ad. loc; Tosefta Trumot vii, 23; Maimonides, Laws of the Foundations of the Tora v, 5, 6.


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