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Secondary findings are genomic variants considered potentially disease-causing, which are found in the genome sequence of individuals not known to manifest the associated disease. Internationally, policy positions around secondary findings lack consensus, and there are many ethical and practical concerns. There remains a lack of robust evidence on clinical validity and utility to inform interpretation and disclosure policy.

Inherited cardiac conditions (ICC) are serious but treatable conditions: they can cause sudden cardiac death in individuals at any age, even without prior symptoms. In contrast to secondary findings associated with some other diseases, ICC-associated secondary findings are amenable to study because clinical signs of disease  - changes to the structure and/or function of the heart - can be looked for using standard cardiac tests, at a single point in time. Using these tests, it is possible to understand whether an individual carrying a pathogenic variant is clinically affected.

We have used a two-stage recall-by-genotype study design with participants in a bioresource to assess expression of ICC in variant carriers and matched controls. Participation includes genetic counseling, medical and family history collection, cardiac imaging and ECG. We have used qualitative methodology to understand the psychosocial impacts and sequelae of disclosure. Study findings will be presented.

Forthcoming events

Ethox/WEH Seminar - Regulation of AI in healthcare: what should we expect?

Wednesday, 28 August 2019, 11am to 12.30pm @ Seminar room 0, BDI, Old Road Campus, OX3 7LF

Oxford Open Doors

Saturday, 14 September 2019, 12.30pm to 4pm

The Nuffield Department of Population Health will be open to the public as part of this year's Open Doors event. Find out how medical researchers use big data to answer important questions about human health around the world.

Pharmaceutical policies in the long run: reflections on 60th anniversary of the Hinchliffe Report

Monday, 11 November 2019, 9.30am to 5pm @ Merton College, Merton Street Oxford, OX1 4JD

Designing and Running Streamlined Randomized Trials

Monday, 13 January 2020 to Tuesday, 14 January 2020, 9.30am - 5pm