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Alerting relatives about heritable risks

Alerting relatives about heritable risks
Alerting relatives about heritable risks
Consider the following case: John has been recently diagnosed with Huntington's Disease (HD) a serious hereditary condition which causes dementia and involuntary movements. There is as yet no cure and early death (40s-60s) is likely. An affected individual has a 50% chance of passing the condition on to any children they have. Those who inherit the causative mutation (a triplet repeat or ‘stutter’ in the DNA), will likely develop the disease in mid-life, or earlier if the stutter has enlarged, which can sometimes happen if inherited paternally. John’s daughter, Clare, knows her father is ill but not that its cause is heritable. She is pregnant and mentions this to John’s clinicians. They wonder whether she has a right to know about his diagnosis because they know the condition is heritable, but John worries about Clare and that she might terminate her pregnancy. He therefore refuses consent for Clare to be told.

This scenario, recently discussed by English courts in ABC vs St George’s Healthcare NHS Trust , raises an issue which clinicians increasingly face, namely whether, and how, genetic information discovered in one patient might be communicated to relatives at risk of the same inheritance but who are as yet unaware of this.
Lucassen, Anneke
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Gilbar, Roy
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Lucassen, Anneke
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Gilbar, Roy
5666bec9-85e1-40c4-b2a2-44b03866728d

Lucassen, Anneke and Gilbar, Roy (2018) Alerting relatives about heritable risks. British Medical Journal. (doi:10.1136/bmj.k1409).

Record type: Article

Abstract

Consider the following case: John has been recently diagnosed with Huntington's Disease (HD) a serious hereditary condition which causes dementia and involuntary movements. There is as yet no cure and early death (40s-60s) is likely. An affected individual has a 50% chance of passing the condition on to any children they have. Those who inherit the causative mutation (a triplet repeat or ‘stutter’ in the DNA), will likely develop the disease in mid-life, or earlier if the stutter has enlarged, which can sometimes happen if inherited paternally. John’s daughter, Clare, knows her father is ill but not that its cause is heritable. She is pregnant and mentions this to John’s clinicians. They wonder whether she has a right to know about his diagnosis because they know the condition is heritable, but John worries about Clare and that she might terminate her pregnancy. He therefore refuses consent for Clare to be told.

This scenario, recently discussed by English courts in ABC vs St George’s Healthcare NHS Trust , raises an issue which clinicians increasingly face, namely whether, and how, genetic information discovered in one patient might be communicated to relatives at risk of the same inheritance but who are as yet unaware of this.

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article- 26.3.18- with statements - Accepted Manuscript
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More information

Accepted/In Press date: 26 March 2018
e-pub ahead of print date: 5 April 2018
Published date: 5 April 2018

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Local EPrints ID: 419462
URI: https://eprints.soton.ac.uk/id/eprint/419462
PURE UUID: 517ea06a-57d1-40a5-a4cd-97df1f2fdfa4

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Date deposited: 12 Apr 2018 16:30
Last modified: 19 Jul 2019 17:22

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Contributors

Author: Anneke Lucassen
Author: Roy Gilbar

University divisions

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