Testing the test--why pursue a better test for Huntington disease?
In 1993, the gene mutation for Huntington disease (HD) was identified and testing became possible with a reliability of >99%, without the need for co-operation of relatives. In 1997, a systematic information program offered the mutation retest to individuals who had earlier received a linkage test result for HD, which has a residual uncertainty of 1-9%. The characteristics of 129 individuals tested by linkage analysis for HD are reported on, as well as the reasons for their reassessment by mutation testing. Three groups were compared: (1) people who were retested between 1993 and 1997, before this study had started, (2) people who were retested after we provided information, and (3) persons who refrained from retesting. Nearly half of the linkage-tested individuals were retested, with the exception of noncarriers with a residual risk of 1 or 2%. Of them, less than one out of five were retested. Carriers with a hopeful view on the future (BHS) and a better sense of well-being (GHQ) were more likely to have the retest. Female carriers were also more likely to have the retest before we contacted them. Noncarriers who were retested were more anxious (HADS) than noncarriers who refrained from the retest. Retestees were younger at the time of testing. No risk reversals were revealed by this study.
Timman
Reinier
R
Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands. timman@mpp.fgg.eur.nl
Maat-Kievit
Anneke
A
Brouwer-DudokdeWit
Christine
C
Zoeteweij
Moniek
M
Breuning
Martijn H
MH
Tibben
Aad
A
D000328:Adult; D005260:Female; D005500:Follow-Up Studies; D008040:Genetic Linkage; D005820:Genetic Testing / Q000523:psychology / Q000592:standards*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology; D008297:Male; D011237:Predictive Value of Tests; D011581:Psychological Tests; D018570:Risk Assessment; D011795:Surveys and Questionnaires