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Article
June 2, 1989

Presymptomatic Diagnosis of Delayed-Onset Disease With Linked DNA MarkersThe Experience in Huntington's Disease

Author Affiliations

From the Departments of Psychiatry and Behavioral Sciences (Drs Brandt, Quaid, Folstein, and Slavney, Mr Garber, and Mss Abbott and Franz) and Pediatrics (Dr Kazazian and Ms Kasch), The Johns Hopkins University School of Medicine, and The Johns Hopkins University School of Hygiene and Public Health (Dr Maestri), Baltimore, Md. Dr Maestri is now in the Division of Human Genetics, University of Maryland School of Medicine, Baltimore.

From the Departments of Psychiatry and Behavioral Sciences (Drs Brandt, Quaid, Folstein, and Slavney, Mr Garber, and Mss Abbott and Franz) and Pediatrics (Dr Kazazian and Ms Kasch), The Johns Hopkins University School of Medicine, and The Johns Hopkins University School of Hygiene and Public Health (Dr Maestri), Baltimore, Md. Dr Maestri is now in the Division of Human Genetics, University of Maryland School of Medicine, Baltimore.

JAMA. 1989;261(21):3108-3114. doi:10.1001/jama.1989.03420210056016
Abstract

Clinical medicine in the 21st century is almost certain to include wide-scale use of molecular genetic diagnostic tests. In September 1986, The Johns Hopkins University School of Medicine initiated a voluntary program of presymptomatic genetic testing for Huntington's disease for persons at 50% risk. DNA analyses using the D4S10 (G8), D4S43, and D4S95 locus probes have been performed for 55 people. Twelve of the tests have yielded positive results, 30 were negative, and 13 were uninformative. Initial reactions ranged from joy and relief to disappointment, sadness, and demoralization. Thus far, there have been no severe depressive reactions. Although the sample size is small, our data suggest that people who receive genetic test results cope well, at least over the short term, when the testing is performed in a clinical context that includes education, pretest counseling, psychological support, and regular follow-up.

(JAMA. 1989;261:3108-3114)

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