Alerting relatives about heritable risks: the limits of confidentiality

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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ORCID for Anneke Lucassen: orcid.org/0000-0003-3324-4338

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