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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    6 M. LAPPÉ AND R. O. ROBLIN When to Screen: Practical Examples of Programs Based on Different Disease-Causation Philosophies Screening at birth for immunoglobulin (IgM), complement (C5), or enzyme (adenosine deaminase) deficencies'^'^ ^ may be justified on the need to detect immunodeficiency diseases which predispose the individual in the future to the risk of neoplasia or serious bacterial infection. However, it is currently difficult to justify using HL-A haplotypes alone for ascertainment of disease risk.'^^ ^ ^ Such estimations are now based on weak statistical associations and the diseases themselves usually have strong. environmental components, thereby reducing the imperative of newborn testing. However, we do suggest that it might be desirable that some screening efforts be directed toward individuals after they have been exposed to environmental triggering agents rather than before such exposure as would be the case in most immunodeficiency newborn screening. For example, it has proved more beneficial for public health puфoses to screen children for immune responsiveness after they have been exposed to natural infection or vaccination rather than before.Mass screening for bacteriuria in the female population at risk for pyelonephritis may be more productive in school-age girls who have been exposed to bacterial infection than in younger, more immunologically naive subjects. In both instances, a genetic determination of possible susceptibility to infection would likely have been unrevealing, since with the exception of adenosine deaminase deficency^^ or other rare genetic immune deficiency diseases, there are as yet few general correlates of genetic status at birth and susceptibility to infection.'^^i^ Procedural Considerations in Screening Programs for Genetic Disease Current and Future Programs To focus our discussion, we wül consider three concrete examples of existing screening programs or technologies: first, screening for PKU; second, a hybrid program (in Massachusetts) which screens for PKU and several other metaboHc abnormalities; and finally, new technologies which couid lead to much broader screening programs. PKU Screening. The most widespread neonatal genetic screening program in the United States is that for PKU. In PKU screening, one looks initially for infants with elevated (>2-4mg/100 ml) blood phenylalanine levels. Typically, PKU testing programs utilize a bacterial growth test