Protocol for genetic testing in Huntington disease: Three years of experience in Minnesota

M. A. Nance, B. S. Leroy, H. T. Orr, T. Parker, S. S. Rich, L. L. Heston

Research output: Contribution to journalArticlepeer-review

13 Scopus citations

Abstract

Molecular genetic testing for Huntington disease (HD) by linkage analysis of DNA markers close to the HD gene has been possible since the mid-1980s. Because of ethical and practical concerns about this kind of testing, most groups performing the test in the past have operated under lengthy research protocols designed to assess the psychological morbidity of the presymptomatic diagnosis of a fatal disease. Our approach to HD testing is service-oriented, and our testing process has been designed to be flexible, to meet the varying needs of our patients. Between 1988 and 1990, 87 inquiries about the test have been received; 22 inquiries had family structures which were unsuitable for linkage analysis. Eleven of the 37 individuals who entered the testing program have not completed it. Of 19 patients who have received DNA results, seven received an increased risk of carrying the HD gene, and ten, a decreased risk. For two additional individuals, nonpaternity resulted in a negligible risk for HD. Several of those consulted, or their spouses, have had continuing outpatient counseling since completing the test; none have required hospitalization. Our short-term results indicate that molecular genetic testing for HD can be performed safely in a clinical setting using our protocol. As molecular genetic testing for HD and other diseases moves out of research centers and into clinics, clinicians must devise practical strategies for providing the medical, genetic, and psychological services needed for the growing number of individuals who will seek such testing.

Original languageEnglish (US)
Pages (from-to)518-522
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume40
Issue number4
DOIs
StatePublished - Jan 1 1991

Keywords

  • DNA markers
  • linkage analysis
  • presymptomatic

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