Ethical, social, and legal dimensions of screening for human genetic disease / editor, Daniel Bergsma ; Genetics Research Group of the Institute of Society, Ethics and the Life Sciences.

Date:
1974
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Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Ethical, social, and legal dimensions of screening for human genetic disease / editor, Daniel Bergsma ; Genetics Research Group of the Institute of Society, Ethics and the Life Sciences. Source: Wellcome Collection.

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    4 M. LAPPÉ AND R. O. ROBLIN programs designed to prevent new genetic diseases. Mounting mass detection programs for genetic diseases whose incidence rates are very low, (ie less than 1 in 20,000), would probably reflect and encourage a restructuring of the philosophy of health care delivery away from one which has emphasized the aggregate good of reducing the societal impact of disease generally, and toward one which values maximization of individual health and well-being. The paper by Twiss in this series reviews some of the value aspects implicit in such a move. Implicit Assumptions of Disease Causation Genetic screening, in contrast to traditional disease screening, moves away from seeking individuals who have failed to adapt toward finding ones who are prone to fail to adapt. Since screening for genetic diseases has generally entailed looking for abnormal biochemical profiles which are assumed to reflect underlying genetic deficiencies, there is a tendency to assume that each genetic disease has a purely endogenous cause. This assumption is only partially true, since all genetic disabiHties only become manifest after interaction with some environmental or metabolic compo¬ nent. There may also be some tendency to think and act as if genetic diseases were exclusively caused by identifiable bad genes. For example. Dent says, This screening has become a new form of public health, in which local health officers ... are having to reorient their thinking a Httle beyond the more usual search for bacteria or viruses, as they begin to seek out the abnormal genes.^ However, experience with one of the best studied genetic diseases, PKU, has revealed that it is genetically hetero- geneous^ in that at least some biochemically deviant individuals are phenotypically normal.Thus, there is some danger that a biochemical abnormality which is only a manifestation of normal genetic heterogeneity may initially be regarded as deviant. This had led to inappropriate treatment with subsequent fatal consequences for a few individuals in the past.^ Hopefully, consciousness of potential genetic heterogeneity will prevent recurrence of such tragedies. One of the premises of adult multiphasic screening programs is that one is testing a population that has been subjected to an environmental winnowing. Proponents of one concept of illness believe that much of adult ill health results primarily from the organism's failure or inability to ward off, adapt to, or compensate for environmental accidents and insults over time.^^ While acknowledging that in many instances there are underlying genetic predispositions to this inability, as in diabetes and