Additional findings from the 100,000 Genomes Project: a qualitative study of recipient perspectives.

PURPOSE: Participants in the 100,000 Genomes Project, a clinical/research initiative delivered through the UK National Health Service, were offered screening for 'additional findings' (AFs): pathogenic/likely pathogenic variants in genes associated with familial hypercholesterolemia or a cancer predisposition syndrome. Understanding the psychological and behavioural responses to AFs informs the clinical utility of a search and disclose policy. METHODS: Thirty-two adult AF recipients took part in semi-structured interviews exploring psychosocial and behavioural responses, analysed using deductive and inductive thematic analysis. RESULTS: Five themes were constructed: cognitive responses to AFs, emotional and psychological responses, personal control, perceived risk of AF-associated disease, family implications. Many participants had misunderstood or incompletely remembered consent for AFs, and most were surprised or shocked to receive an AF. While many ultimately appreciated knowing about the risk conferred, some struggled to make sense of their disease risk, which complicated decision making about risk management particularly for women with a BRCA AF. Recipients sought control through seeking clinical evaluation and information, and informing relatives. Difficulties conceptualising risk and lack of AF-associated disease family history meant some hesitated to inform relatives. CONCLUSIONS: Genome sequencing programmes offering AFs require attention to consent processes. Post-disclosure care should aim to promote recipients' perceived personal control.