Genetic Screening: Whose Responsibility?

Peter T. Rowley, MD
JAMA. 1976;236(4):374-375. doi:10.1001/jama.1976.03270040030024.
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GENETIC screening may be defined as the identification of individuals who may profit from genetic information. Criteria for conditions for which genetic screening is appropriate include (1) existence of implications for action for those individuals so identified, (2) ability to determine who is at risk (this may involve performing a laboratory test or simply determining relationship to an affected individual), (3) the likelihood of benefits of notification outweighing its burdens, and (4) availability of adequate means for counseling and follow-up.

Screening for nongenetic conditions (eg, lead intoxication) is usually intended to discover people with diseases due to extrinsic influences. Genetic screening discovers something within a person's own makeup and may make him feel unworthy or guilty. This raises social, ethical, and legal questions having to do with consent, privacy, confidentiality, and stigmatization. Hence the need for adequate counseling and follow-up. Genetic screening should be followed by genetic counseling of individuals


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