Presymptomatic Diagnosis of Delayed-Onset Disease With Linked DNA Markers: The Experience in Huntington’s Disease

Jason Brandt, Kimberly A. Quaid, Susan E. Folstein, Paul Garber, Nancy E. Maestri, Margaret H. Abbott, Phillip R. Slavney, Mary L. Franz, Laura Kasch, Haig H. Kazazian

Research output: Contribution to journalArticle

93 Scopus citations

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 uniformative. 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.

Original languageEnglish (US)
Pages (from-to)3108-3114
Number of pages7
JournalJAMA: The Journal of the American Medical Association
Volume261
Issue number21
DOIs
StatePublished - Jun 2 1989

ASJC Scopus subject areas

  • Medicine(all)

Fingerprint Dive into the research topics of 'Presymptomatic Diagnosis of Delayed-Onset Disease With Linked DNA Markers: The Experience in Huntington’s Disease'. Together they form a unique fingerprint.

  • Cite this

    Brandt, J., Quaid, K. A., Folstein, S. E., Garber, P., Maestri, N. E., Abbott, M. H., Slavney, P. R., Franz, M. L., Kasch, L., & Kazazian, H. H. (1989). Presymptomatic Diagnosis of Delayed-Onset Disease With Linked DNA Markers: The Experience in Huntington’s Disease. JAMA: The Journal of the American Medical Association, 261(21), 3108-3114. https://doi.org/10.1001/jama.1989.03420210056016