Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1993 Dec;30(12):1028–1035. doi: 10.1136/jmg.30.12.1028

Ethical and social issues in presymptomatic testing for Huntington's disease: a European Community collaborative study. European Community Huntington's Disease Collaborative Study Group.

PMCID: PMC1016639  PMID: 8133502

Abstract

An analysis of social and ethical aspects of presymptomatic testing for Huntington's disease has been carried out, based on data on linked DNA markers, from four major testing centres in different European Community countries (Belgium, Italy, Netherlands, and United Kingdom). Information was available on 603 applicants, with 213 final results given, of which 32% gave an increased risk. A series of specific issues and problems were documented systematically for all applicants, results being given on frequency of occurrence and illustrated by individual case histories. The principal issues could be grouped as problems of inappropriate referral, problems involving relatives, and problems relating to disclosure of results. At least one important problem was encountered in 46% of applicants, emphasising the importance of expert counselling, preparation, and support of applicants, and of close liaison between clinical, counselling, and laboratory staff. The extensive and detailed information available for Huntington's disease from this and other studies will be of considerable value in relation to genetic testing for other late onset genetic disorders and will be even more relevant to Huntington's disease now that specific mutation analysis is possible for this disorder.

Full text

PDF
1028

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. 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., Jr Presymptomatic diagnosis of delayed-onset disease with linked DNA markers. The experience in Huntington's disease. JAMA. 1989 Jun 2;261(21):3108–3114. [PubMed] [Google Scholar]
  2. Brock D. J., Mennie M., Curtis A., Millan F. A., Barron L., Raeburn J. A., Dinwoodie D., Holloway S., Crosbie A., Wright A. Predictive testing for Huntington's disease with linked DNA markers. Lancet. 1989 Aug 26;2(8661):463–466. doi: 10.1016/s0140-6736(89)92084-9. [DOI] [PubMed] [Google Scholar]
  3. Craufurd D., Dodge A., Kerzin-Storrar L., Harris R. Uptake of presymptomatic predictive testing for Huntington's disease. Lancet. 1989 Sep 9;2(8663):603–605. doi: 10.1016/s0140-6736(89)90722-8. [DOI] [PubMed] [Google Scholar]
  4. Demyttenaere K., Evers-Kiebooms G., Decruyenaere M. Pitfalls in counseling for predictive testing in Huntington disease. Birth Defects Orig Artic Ser. 1992;28(1):105–111. [PubMed] [Google Scholar]
  5. Duyao M., Ambrose C., Myers R., Novelletto A., Persichetti F., Frontali M., Folstein S., Ross C., Franz M., Abbott M. Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat Genet. 1993 Aug;4(4):387–392. doi: 10.1038/ng0893-387. [DOI] [PubMed] [Google Scholar]
  6. Harding A. E. The gene for Huntington's disease. BMJ. 1993 Aug 14;307(6901):396–397. doi: 10.1136/bmj.307.6901.396. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Harper P. S. Clinical consequences of isolating the gene for Huntington's disease. BMJ. 1993 Aug 14;307(6901):397–398. doi: 10.1136/bmj.307.6901.397. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Harper P. S. Insurance and genetic testing. Lancet. 1993 Jan 23;341(8839):224–227. doi: 10.1016/0140-6736(93)90080-z. [DOI] [PubMed] [Google Scholar]
  9. Hayden M. R., Robbins C., Allard D., Haines J., Fox S., Wasmuth J., Fahy M., Bloch M. Improved predictive testing for Huntington disease by using three linked DNA markers. Am J Hum Genet. 1988 Nov;43(5):689–694. [PMC free article] [PubMed] [Google Scholar]
  10. Jacopini G. A., D'Amico R., Frontali M., Vivona G. Attitudes of persons at risk and their partners toward predictive testing. Birth Defects Orig Artic Ser. 1992;28(1):113–117. [PubMed] [Google Scholar]
  11. Meissen G. J., Myers R. H., Mastromauro C. A., Koroshetz W. J., Klinger K. W., Farrer L. A., Watkins P. A., Gusella J. F., Bird E. D., Martin J. B. Predictive testing for Huntington's disease with use of a linked DNA marker. N Engl J Med. 1988 Mar 3;318(9):535–542. doi: 10.1056/NEJM198803033180903. [DOI] [PubMed] [Google Scholar]
  12. Morris M. J., Tyler A., Lazarou L., Meredith L., Harper P. S. Problems in genetic prediction for Huntington's disease. Lancet. 1989 Sep 9;2(8663):601–603. doi: 10.1016/s0140-6736(89)90721-6. [DOI] [PubMed] [Google Scholar]
  13. Snell R. G., MacMillan J. C., Cheadle J. P., Fenton I., Lazarou L. P., Davies P., MacDonald M. E., Gusella J. F., Harper P. S., Shaw D. J. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet. 1993 Aug;4(4):393–397. doi: 10.1038/ng0893-393. [DOI] [PubMed] [Google Scholar]
  14. Tibben A., Vegter-vd Vlis M., Skraastad M. I., Leeuwen-Cornelisse I. S., Frets P. G., vd Kamp J. J., Niermeijer M. F., von Ommen G. J., Roos R. A., Rooijmans H. G. Presymptomatic DNA-testing for Huntington disease in The Netherlands. Birth Defects Orig Artic Ser. 1992;28(1):127–131. [PubMed] [Google Scholar]
  15. Tyler A., Morris M., Lazarou L., Meredith L., Myring J., Harper P. Presymptomatic testing for Huntington's disease in Wales 1987-90. Br J Psychiatry. 1992 Oct;161:481–488. doi: 10.1192/bjp.161.4.481. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES