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

91 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)3108-3114
Number of pages7
JournalJournal of the American Medical Association
Volume261
Issue number21
DOIs
StatePublished - Jun 2 1989
Externally publishedYes

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Voluntary Programs
Molecular Pathology
Delayed Diagnosis
Clinical Medicine
Huntington Disease
Genetic Testing
Genetic Markers
Routine Diagnostic Tests
Sample Size
Counseling
Molecular Biology
Medicine
Psychology
Education
DNA

ASJC Scopus subject areas

  • Medicine(all)

Cite this

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

Presymptomatic Diagnosis of Delayed-Onset Disease With Linked DNA Markers : The Experience in Huntington’s Disease. / Brandt, Jason; Quaid, Kimberly A.; Folstein, Susan E.; Garber, Paul; Maestri, Nancy E.; Abbott, Margaret H.; Slavney, Phillip R.; Franz, Mary L.; Kasch, Laura; Kazazian, Haig H.

In: Journal of the American Medical Association, Vol. 261, No. 21, 02.06.1989, p. 3108-3114.

Research output: Contribution to journalArticle

Brandt, J, Quaid, KA, Folstein, SE, Garber, P, Maestri, NE, Abbott, MH, Slavney, PR, Franz, ML, Kasch, L & Kazazian, HH 1989, 'Presymptomatic Diagnosis of Delayed-Onset Disease With Linked DNA Markers: The Experience in Huntington’s Disease', Journal of the American Medical Association, vol. 261, no. 21, pp. 3108-3114. https://doi.org/10.1001/jama.1989.03420210056016
Brandt, Jason ; Quaid, Kimberly A. ; Folstein, Susan E. ; Garber, Paul ; Maestri, Nancy E. ; Abbott, Margaret H. ; Slavney, Phillip R. ; Franz, Mary L. ; Kasch, Laura ; Kazazian, Haig H. / Presymptomatic Diagnosis of Delayed-Onset Disease With Linked DNA Markers : The Experience in Huntington’s Disease. In: Journal of the American Medical Association. 1989 ; Vol. 261, No. 21. pp. 3108-3114.
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