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: http://dx.doi.org/10.1136/bmj.326.7384.331 (Published 8 February 2003)
Cite this as: BMJ 2003;326:331

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  1. Ros Tassicker, predictive testing counsellora,
  2. Julian Savulescu, professor of ethicsb,
  3. Loane Skene, professor of lawc,
  4. Pam Marshall, predictive testing counsellord,
  5. Lara Fitzgerald, genetic counsellora,
  6. Martin B Delatycki (delatycm@cryptic.rch.unimelb.edu.au), clinical geneticista
  1. a Genetic Health Services Victoria, Royal Children's Hospital, Parkville, Victoria 3052, Australia
  2. b Murdoch Childrens Research Institute, Royal Children's Hospital
  3. c Faculty of Law, University of Melbourne, Parkville
  4. d Department of Psychiatry, Launceston General Hospital, Launceston, Tasmania 7250, Australia
  1. Correspondence to: M B Delatycki
  • Accepted 21 October 2002

Clinical genetics units of hospitals occasionally receive requests from women for prenatal diagnosis for Huntington's disease when their male partners are at risk and do not want to know their genetic status for the disease. These cases raise significant legal and ethical concerns for the clinical team because such prenatal tests can reveal that the woman's partner has the genetic mutation for Huntington's disease when he does not want this information and may be unprepared for it. In this paper we present clinical, legal, and ethical appraisals of this situation. We conclude that there is no easy answer to such requests and that clinical teams need to deal with them on the basis of the individual circumstances

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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