Secondary/additional findings in 100,000 Genomes Project evaluation
Research type
Research Study
Full title
Secondary/additional findings in the 100,000 Genomes Project: disease manifestation, impacts on recipients and healthcare utilisation
IRAS ID
297591
Contact name
Elizabeth Ormondroyd
Contact email
Sponsor organisation
University of Oxford Clinical Trials and Research Governance
Duration of Study in the UK
1 years, 9 months, 0 days
Research summary
Genome sequencing is a powerful tool for identifying genetic contributions to disease, and is increasingly being employed in healthcare and research settings. Certain genetic variants are considered capable of causing disease (‘pathogenic’), based on genetic testing data from individuals affected by the relevant condition. It is technically possible to analyse individual sequencing data to identify additional variants that might predict risk of future serious but treatable disease, and which may not present clinically (if at all) until later life. Such variants may also be present in close relatives.
Pathogenic genomic variants detected in an individual whose genome is not sequenced for that disease indication have been termed “secondary” or “additional” findings; information on the predictive value and wider clinical utility is not yet clear.
The 100,000 Genomes Project (100k GP) recruited patients with a rare disease or cancer, and some healthy relatives, through the NHS. Participants were also offered screening for secondary findings in a specified list of genes, termed ‘additional findings’ (AFs). NHS England is preparing to release AFs to recruiting centres.
This (SAFE) study has four aims:
• Understand the extent to which AFs correlate with clinical and/or family history;
• Understand the clinical outcomes of AF disclosure;
• Quantify healthcare resource use and costs accrued in secondary care following AF disclosure;
• Evaluate the psychosocial and behavioural consequences of SF disclosure.We will include participants in 100k GP who receive an AF and who are located in the South Central Genomic Medicine Service Alliance (Wessex, Oxford and West Midlands). We will collect clinical data and clinical follow up data relevant to the AF reported, and will invite a smaller group of participants to participate in a qualitative interview study to understand their experiences of receiving an AF, and the psychosocial and behavioural impacts and consequences of AF disclosure.
REC name
South Central - Berkshire B Research Ethics Committee
REC reference
21/SC/0254
Date of REC Opinion
17 Aug 2021
REC opinion
Favourable Opinion