Increasing genetic knowledge over the last decade has enabled hundreds of genetic variants associated with inherited cardiac conditions to be identified, many of which cause increased risk of sudden cardiac death. While individually these conditions are rare, taken together they impose a significant burden. The severity of these conditions—the possibility that they might cause sudden unheralded death of a teenager or young adult—juxtaposed with uncertainty about the pathology linked with many of the genetic variants is significant in terms of professional practice because, increasingly, clinicians have been encouraged to cascade out genetic testing from the proband or consultand to other family members who may be at risk of developing the same condition. This process often involves sharing human tissue samples, DNA or personal information. This paper reviews the legal and regulatory frameworks which may apply when tissue and DNA samples are collected, used and retained, both for the purpose of diagnosis and for benefiting other family members, when a suspected or definitive diagnosis of an inherited cardiovascular condition is made. Sometimes the interests of family members may conflict, and it may be difficult for practitioners to reconcile the interests of one family member with another, particularly if the balance of benefits and harms from testing is unclear. The paper then examines some of the ethical tensions which may arise in practice and concludes that all involved should be conversant with the legal and ethical frameworks that apply.
- Genetic screening/testing
- informed consent
- applied and professional ethics
- confidentiality and privacy
- legal aspects
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Funding The PHG Foundation is the working name of the Foundation for Genomics and Population Health, a charitable company registered in England and Wales, Charity No. 1118664, Company No 5823194. AEH and HB are supported by the PHG Foundation.
Competing interests None.
Provenance and peer review Not commissioned; externally peer reviewed.