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Genetic Testing of Families With Hereditary Diseases

Theodore F. Thurmon, MD
JAMA. 1996;276(14):1139. doi:10.1001/jama.1996.03540140027017.
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To the Editor.  —Studies dating from 20 years ago1 bear on utilization of clinical genetics services that were alluded to in the article about testing for hereditary breast cancer by Dr Lerman and colleagues.2 The medical problem evaluated in our study1 was mental retardation risk in future progeny. After informed consent was obtained from responsible family members, we applied all available diagnostic modalities to 1000 institutionalized probands to estimate the risk of mental retardation in future progeny of their parents and siblings.After the evaluations, families were notified by registered mail of the results in general terms (heritable or nonheritable, high or low risk to progeny), and free genetic counseling was offered. A randomized sample of 100 probands was selected for study of utilization of clinical genetics services. Families could not be located in 17 cases. A genetic counselor interviewed the remainder by telephone or during a home visit. Of


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