Predictive Testing for Huntington Disease: Lessons for Other Adult Onset Disorders

  • M. R. Hayden


Predictive testing for Huntington disease (HD) has now been offered for approximately eight years in Canada (Fox et al. 1989, Babul et al. 1993). Prior to the development of protocols for predictive testing, there were significant concerns about the impact of providing modification of risk for a disorder for which there was no treatment. It was feared that disclosure of results could have significantly adverse effects on the quality of life of participants (Perry 1981).


Huntington Disease Predictive Testing Prenatal Testing General Severity Index Huntington Disease Gene 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Adam S, Wiggins S, Whyte P, Bloch M, Shokeir MHK, Soltan H, Meschino W, Summers A, Suchowersky 0, Welch JP, Huggins M, Theilmann J, Hayden MR (1993) Five year study of prenatal testing for Huntington disease: Demand, attitudes and psychological assessment. J Med Genet 30: 549–556PubMedCrossRefGoogle Scholar
  2. Andrew SE, Goldberg YP, Theilmann J, Zeisler J, Hayden MR (1994) A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: Implications for diagnostic accuracy and predictive testing. Hum Mol Genet 3: 65–67PubMedCrossRefGoogle Scholar
  3. Babul R, Adam S, Kremer B, DuFrasne S, Wiggins S, Huggins M, Theilmann J, Block M, Hayder MR (1993) Attitudes toward direct predictive testing for the Huntington disease gene: Relevance for other adult-onset disorders. JAMA 270: 2321–2325PubMedCrossRefGoogle Scholar
  4. Benjamin CB, Adam S, Wiggins S Theilmann JL, Copley TT, Bloch M, Squitier F, McKellin W, Cox S, Brown SA, Kremer HPM, Burgess M, Meshino W, Summers A, MacGregor D, Buchanan J, Greenberg C, Carson N, Hayden MR (1994) Proceed with care: direct predictive testing for Huntington disease. Am J Hum Genet 55: 606–617PubMedGoogle Scholar
  5. Bloch M, Adam A, Wiggins S, Hayden MR (1992) Predictive testing for Hundington disease. The experience of those receiving an increased risk. Am J Med Gen 42: 499–507CrossRefGoogle Scholar
  6. Brandt J, Quaid KA, Folstein SE, Garber P, Maestri NE, Abbott MH, Slavney PR, Franz ML, Kasch L, Kazazian HH Jr (1989) Presymtomatic diagnosis of delayed-onset disease with linked DNA markers: the experience in Huntington’s disease. JAMA 261: 3108–3114PubMedCrossRefGoogle Scholar
  7. Copley T, Wiggins S, Dufrasne S, Bloch M, Adam S, McKellin W, Hayden MR and the Canadian Collaborative Study for Predictive Testing for Huntingon Disease. Are we all of one mind? Clinicians’ and patients’ opinions regarding the development of a service protocol for predictive testing for Huntington disease. Am J Med Genet, in pressGoogle Scholar
  8. Crauford D, Dodge A, Kerzin-Storrar L, Harris R (1989) Uptake of presymptomatic predictive testing for Huntington’s disease. Lancet ii: 603–605CrossRefGoogle Scholar
  9. Fox S, Bloch M, Fahy M, Hayden MR (1989) Predictive testing for Huntington disease: I. description of a pilot project in British Columbia. Am J Med Genet 32: 211–216PubMedCrossRefGoogle Scholar
  10. Goldberg YP, Andrew SE, Clarke LA, Hayden MR (1993) A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease. Human Molecular Genetics 2:6: 635–636PubMedCrossRefGoogle Scholar
  11. Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PL, Ottina K, Wallace MR, Sakaguchi AY, Young AB, Shoulson I, Bonilla E, Martin JB (1983) A polymorphic DNA marker genetically linked to Huntington’s disease. Nature 306: 234–238PubMedCrossRefGoogle Scholar
  12. Huggins M, Bloch M, Wiggins S, Adam S, Suchowersky 0, Trew M, Klimek M, Greenberg CR, Eleff M, Thompson LP, Knight J, MacLeod P, Girard K, Theilman J, Hedrick KA, Hayden MR (1992) Predictive testing for Huntington disease in Canada: Adverse effects and unexpected results in those receiving a decreased risk. Am J Med Gen 42: 508–515CrossRefGoogle Scholar
  13. Lam RW, Bloch M, Jones BD, Marcus AM, Fox S, Amman W, Hayden MR (1988) Psychiatric morbidity associated with preclinical testing for Huntington disease. J Clin Psych 444–447Google Scholar
  14. Mennie ME, Holloway SM, Brock DJH (1990) Attitudes of general practitioners to presymptomatic testing for Huntington’s disease. J Med Genet 27: 224–227PubMedCrossRefGoogle Scholar
  15. Perry TL (1984) Some ethical problems in Huntington chorea. CMAJ 125: 1098–1100Google Scholar
  16. Schoenfeld M, Myers RH, Cupples A, Berkman B, Sax DS, Clark E (1984) Increased rate of suicide among patients with Huntington’s disease. J Neurol Neurosurg Psychiat 47: 1283–1287PubMedCrossRefGoogle Scholar
  17. The Huntington Disease Collaborative Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell 72: 971–983CrossRefGoogle Scholar
  18. Thies U, Bockel B, Bochdalofsky V (1993) Attitudes of neurologists, psychiatrists, and psychotherapists towards predictive testing for Huntington’s disease in Germany. J Med Genet 30: 1023–1027PubMedCrossRefGoogle Scholar
  19. Thomassen R, Tibben A, Niermeijer MF, Van der Does E, Van de Kamp JJ, Verhage F (1993) Attitudes of Dutch general practitioners towards presymptomatic DNA-testing for Huntington disease. Clin Genet 43: 63–68PubMedGoogle Scholar
  20. Wiggins S, Whyte P, Huggins M, Adam S, Theilmann, J, Bloch M, Sheps SB, Schechter MT, Hayden MR (1992) The psychological consequences of predictive testing for Huntington’s disease. New Engl J Med 327: 1401–1405PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1996

Authors and Affiliations

  • M. R. Hayden

There are no affiliations available

Personalised recommendations