Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.
Skip to main content


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

UVBO Seminar - Nutrient timing and human health

Thursday, 24 October 2019, 1pm to 2pm @ School of Anthropology, 61 Banbury Road, OX2 6PE

NPEU Seminar - Understanding Challenges in Newborn Care to Improve Patient Outcomes

Monday, 28 October 2019, 2pm to 3pm @ Seminar room 0, BDI, Old Road Campus, OX3 7LF

Richard Doll Seminar - Prostate cancer screening and treatment: what is the trial evidence and linked epidemiology?

Tuesday, 29 October 2019, 1pm to 2pm @ Seminar rooms, BDI, Old Road Campus, OX3 7LF

Health Services Research Unit Methods Group – Clinical Outcome Assessments: Content validity and meaningful change

Tuesday, 05 November 2019, 10.30am to 11.30am @ L1 Meeting room, Richard Doll Building, Old Road Campus, OX3 7LF

Richard Doll Seminar - Cardiovascular research in the Tromsø Study

Tuesday, 05 November 2019, 1pm to 2pm @ Seminar rooms, BDI, Old Road Campus, OX3 7LF

WEH/Ethox Seminar - Psychology applied to genomics: understanding the utility of personal genomic information for physical and mental health

Wednesday, 06 November 2019, 11am to 12.30pm @ Seminar room 0, BDI, Old Road Campus, OX3 7LF