Huntington disease: who seeks presymptomatic genetic testing, why and what are the outcomes?

Scuffham, Tracey M. and MacMillan, John C. (2014) Huntington disease: who seeks presymptomatic genetic testing, why and what are the outcomes?. Journal of Genetic Counseling, 23 5: 754-761. doi:10.1007/s10897-013-9678-z

Author Scuffham, Tracey M.
MacMillan, John C.
Title Huntington disease: who seeks presymptomatic genetic testing, why and what are the outcomes?
Journal name Journal of Genetic Counseling   Check publisher's open access policy
ISSN 1059-7700
Publication date 2014-10
Year available 2014
Sub-type Article (original research)
DOI 10.1007/s10897-013-9678-z
Open Access Status
Volume 23
Issue 5
Start page 754
End page 761
Total pages 8
Place of publication New York, NY, United States
Publisher Springer New York
Collection year 2015
Language eng
Formatted abstract
The aims of this study were to: 1) quantify the characteristics of those seeking presymptomatic testing for HD, 2) identify their motivations for testing, 3) quantify the waiting times between the various steps within the testing process, and 4) quantify the outcomes of testing at a large state-wide genetic testing center in Australia. A review of medical charts for all referrals for presymptomatic testing of Huntington disease received over a 4 year period (2006–2010) was undertaken. A total of 152 cases met the study inclusion criteria; the mean age was 39 years, 46 % were male and 61 % underwent genetic testing. Of the males who were tested there was a non-significant trend towards having an affected mother vs father (62 %, p = 0.09), whereas females tested were just as likely to have an affected mother or father. The most frequently cited reasons for seeking testing were “family planning”, “plan future”, and “need to know”. Some 11 % deferred testing following the psychological assessment. Of those at 50 % prior risk, 57.5 % tested positive; this was higher than expected and much higher than reported in other studies. The median times from referral to initial appointment, and then to results was 69 days and 144 days respectively. Overall, this review of medical charts shows the depth of information obtainable from routinely collected data and revealed that a high proportion of patients tested positive for HD at this centre.
Keyword Health services
Genetic testing
Outcome and process assessment (Health Care)
Predictive testing
Huntington disease
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2015 Collection
School of Medicine Publications
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Citation counts: TR Web of Science Citation Count  Cited 3 times in Thomson Reuters Web of Science Article | Citations
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