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Abstract

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

Richard Doll Seminar: Design and analysis of prevalence surveys in low-resource settings

Tuesday, 25 February 2020, 1pm to 2pm @ Richard Doll Lecture Theatre, Richard Doll Building, Old Road Campus, OX3 7LF

WEH/Ethox Seminar

Wednesday, 26 February 2020, 11am to 12.30pm @ Seminar room 0, Big Data Institute, Old Road Campus, OX3 7LF

HERC Seminar: Learning healthcare systems for cost-effective precision oncology.

Thursday, 27 February 2020, 12pm to 1pm @ Seminar room 0, Big Data Institute, Old Road Campus, OX3 7LF

The Global Response to the Novel Coronavirus (SARS-CoV-2) Outbreak

Thursday, 27 February 2020, 2.30pm to 4pm @ Seminar rooms, Big Data Institute

Richard Doll Seminar: The Risk of Everything – using linked electronic health records to develop and validate risk prediction tools for use in clinical care

Tuesday, 03 March 2020, 1pm to 2pm @ Richard Doll Lecture Theatre, Richard Doll Building, Old Road Campus, OX3 7LF

WEH/Ethox Seminar: Building research capacity through North-South Partnerships: some ethical reflections and a social justice agenda

Wednesday, 04 March 2020, 11am to 12.30pm @ Seminar room 0, Big Data Institute, Old Road Campus, OX3 7LF