Revised Huntington's Disease
Presymptomatic Testing Protocol
The Huntington Disease presymptomatic
testing protocol (HDPT) adopted in 1994 by the Central Regional Genetic Services was based
on international guidelines and included pretest psychiatric and neurological evaluations
and genetic counselling. Several surveys from around the world have evaluated the short
and long-term effects of HDPT and found that, although the emotional impact of testing was
significant, very few "catastrophic events" (e.g. suicide) have occurred as a
result. In other words, after a period of adjustment, most people cope with testing and
their results.
Alison Gray’s study evaluated levels of satisfaction with our
protocol strongly suggested that people do not cope well with the lengthy waiting period
between their initial meeting with genetic services and receiving their results. As a result of
this feedback and to streamline the process, the protocol has been revised.
(The following pre-symptomatic protocol applies to Central and regional genetic
services only.)
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1.
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Discussion with the Medical Geneticist or Genetic Counsellor. Psychiatric and
neurological appointments offered (optional). Contact numbers for the HD Association
offered.
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2.
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Stand-down period of 4 weeks to consider pros and cons of testing, then
contact genetic services to arrange for consent and blood forms.
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3.
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Written consent and blood sample obtained.
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4.
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DNA extracted and the sample sent to the Auckland laboratory for testing.
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5.
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Result session with a health professional, typically Medical Geneticist,
Genetic Counsellor, Psychiatrist or GP. If the result is ‘positive’
for the presence of the HD mutation a neurological evaluation will be offered.
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6.
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Follow-up in person, by telephone or letter as appropriate.
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It is hoped that the protocol will ensure that people receive their results within three
months of their meeting with a genetic service.
Comments are very welcome. Please address them to:-
Central Regional Genetic Services,
Wellington Hospital,
PO Box 7902,
Wellington South.
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