Presymptomatic testing for Huntington's disease by linkage and by direct mutation analysis: Comparison of uptake of testing and characteristics of test applicants

S. M. Holloway (Lead / Corresponding author), M. E. M. Porteous, D. R. Fitzpatrick, A. E. Crosbie, R. Cetnarskyj, J. Warner, L. Barron

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

In Edinburgh, we have compared presymptomatic testing by linkage and by direct mutation analysis by investigating the demand for testing and characteristics of test applicants. Annual new requests for the direct test (DT) are now double the peak with the linkage test (LT) but only 6% individuals have requested re-testing. DT applicants were older with a smaller proportion having lived with an affected relative than LT applicants. This was because many were relatives of newly diagnosed first known cases in their family. This may also explain why DT applicants were less likely to expect a negative result and more likely to be uncertain about their risk. A greater proportion of DT applicants first heard about the test from relatives or their GP than LT applicants who were more likely to hear from the Genetic Centre. The demand for follow-up by the Geneticist/Genetic Nurse was much less for DT than for LT applicants largely due to the support offered by the HD Advisors.

Original languageEnglish
Pages (from-to)103-111
Number of pages9
JournalGenetic Counseling
Volume9
Issue number2
Publication statusPublished - 1998

Keywords

  • Huntington disease
  • Predictive testing
  • Programme evaluation

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