Prenatal diagnosis requests for Huntington's disease when the father is at risk and does not want to know his genetic status: clinical, legal, and ethical viewpoints
BMJ 2003; 326 doi: https://doi.org/10.1136/bmj.326.7384.331 (Published 08 February 2003) Cite this as: BMJ 2003;326:331- Ros Tassicker, predictive testing counsellora,
- Julian Savulescu, professor of ethicsb,
- Loane Skene, professor of lawc,
- Pam Marshall, predictive testing counsellord,
- Lara Fitzgerald, genetic counsellora,
- Martin B Delatycki (delatycm@cryptic.rch.unimelb.edu.au), clinical geneticista
- a Genetic Health Services Victoria, Royal Children's Hospital, Parkville, Victoria 3052, Australia
- b Murdoch Childrens Research Institute, Royal Children's Hospital
- c Faculty of Law, University of Melbourne, Parkville
- d Department of Psychiatry, Launceston General Hospital, Launceston, Tasmania 7250, Australia
- Correspondence to: M B Delatycki
- Accepted 21 October 2002
Huntington's disease is an autosomal dominant, incurable neurodegenerative disorder caused in virtually all cases by a trinucleotide repeat expansion in the IT15 gene. 1 2 Predictive and prenatal testing are available through clinical genetics units, but most people at risk choose not to have predictive testing.3
Predictive testing is undertaken according to international guidelines, which make recommendations on providing information and counselling support throughout the testing process.4 The principle of respect for autonomy is protected by allowing people to refuse to have genetic testing after they have been counselled.
Summary points
When the father is at 50% risk of having Huntington's disease, there is a 1 in 4 chance that prenatal testing will show that he has the mutation and will develop the disease
Testing for Huntington's disease normally follows international guidelines that protect an individual's right to know or not know their genetic status
It is unclear whether prenatal testing should be done without the consent of the man at risk
Either performing the prenatal test or refusing it if the man at risk does not consent are legally acceptable
Hypothetical case
Clinical genetics …
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