Ethox/WEH Seminar - Genomic secondary findings in inherited heart conditions: a recall by genotype study
Dr Liz Ormondroyd, Radcliffe Department of Medicine
Wednesday, 04 September 2019, 11am to 12.30pm
Seminar room 0, BDI, Old Road Campus, OX3 7LF
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.