Presymptomatic Testing for Genetic Disease: Ethical Considerations.• 155

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A by-product of the Human Genome Project is the development of a wide array of genetic tests for treatable and untreatable inheritable conditions. The ethical implications of testing for children are especially difficult as parents' presumed right to know may be in direct conflict with the child's privacy, and family interests may appear to conflict with the best interests of the child. As part of a larger project on the ethical implications of the human genome project, we are developing a curriculum to assist primary care pediatricians to respond to families' questions about genetic testing. Here we analyzed arguments for and against genetic testing as presented in the pediatric, human genetics and health policy literature. The following criteria were selected as most important in determining whether a particular test is justifiable: age of patient, age of onset of disease, reliability of test, availability of treatment, benefits and burdens of treatment to patient and family.

Based on this analysis, a newborn test for sickle cell disease in an infant at risk is the paradigm for an appropriate test. Disease is early onset, the test is reliable, treatment is effective and minimally burdensome to the child and the family. Testing for susceptibility to early onset breast cancer, however, is not appropriate. Although the test is reasonably reliable, detection in childhood offers no significant treatment benefit, and the treatment (prophylactic mastectomy) is very burdensome and of uncertain value. However, when evaluated from the perspective of the family's interest, the calculus may be modified by the anxiety burden of a strong family history of cancer.

Primary care pediatricians will increasingly be called upon to help families make important decisions about genetic testing. Pediatricians must develop their own framework for responding to requests for testing. We present our framework as a basis for discussion.

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(Spon by: William Meadow)

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