J Med Ethics. 2016 Jun 8. pii: medethics-2016-103400. doi: 10.1136/medethics-2016-103400. [Epub ahead of print]

Predictive genetic testing for neurodegenerative conditions: how should conflicting interests within families be managed?

Stark Z1, Wallace J2, Gillam L3, Burgess M4, Delatycki MB5.

Author information

• 1Murdoch Childrens Research Institute, Parkville, Victoria, Australia Victorian Clinical Genetics Services, Parkville, Victoria, Australia.
• 2Victorian Clinical Genetics Services, Parkville, Victoria, Australia.
• 3Murdoch Childrens Research Institute, Parkville, Victoria, Australia Royal Children's Hospital, Parkville, Victoria, Australia University of Melbourne, Parkville, Victoria, Australia.
• 4Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia.
• 5Murdoch Childrens Research Institute, Parkville, Victoria, Australia Victorian Clinical Genetics Services, Parkville, Victoria, Australia University of Melbourne, Parkville, Victoria, Australia Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia.

Abstract

Predictive genetic testing for a neurodegenerative condition in one individual in a family may have implications for other family members, in that it can reveal their genetic status. Herein a complex clinical case is explored where the testing wish of one family member was in direct conflict to that of another. The son of a person at 50% risk of an autosomal dominant neurodegenerative condition requested testing to reveal his genetic status. The main reason for the request was if he had the familial mutation, he and his partner planned to utilise preimplantation genetic diagnosis to prevent his offspring having the condition. His at-risk parent was clear that if they found out they had the mutation, they would commit suicide. We assess the potential benefits and harms from acceding to or denying such a request and present an approach to balancing competing rights of individuals within families at risk of late-onset genetic conditions, where family members have irreconcilable differences with respect to predictive testing. We argue that while it may not be possible to completely avoid harm in these situations, it is important to consider the magnitude of risks, and make every effort to limit the potential for adverse outcomes.