Celebrating 20 years of UK Biobank
UK Biobank, YouTube video, March 28, 2022
A video reflecting on the past, present and future value of UK Biobank. UK Biobank is a large-scale biomedical database and research resource, containing in-depth genetic and health information from half a million UK participants. The database is regularly augmented with additional data and is globally accessible to approved researchers undertaking vital research into the most common and life-threatening diseases.
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank
SJ Jurgens et al, Nature Genetics, February 17, 2022
Cardiometabolic diseases are the leading cause of death worldwide. Despite a known genetic component, our understanding of these diseases remains incomplete. Here, we analyzed the contribution of rare variants to 57 diseases and 26 cardiometabolic traits, using data from 200,337 UK Biobank participants with whole-exome sequencing. We identified 57 gene-based associations.
Population-Based Penetrance of Deleterious Clinical Variants.
Forrest Iain S et al. JAMA 2022 1 (4) 350-359
This cohort study included 72?434 participants from 2 biobanks who had alleles for pathogenic or loss-of-function variants reported for 157 diseases. Among the 5360 pathogenic/loss-of-function variants, 4795 (89%) were associated with less than or equal to 5% risk difference for disease in individuals with the variant allele; pathogenic variants were associated with 6.9% mean penetrance and benign variants were associated with 0.85% mean penetrance. In these biobanks, the estimated penetrance of pathogenic/loss-of-function variants varied, but was generally associated with a small increase in the risk of disease.
Their DNA Hides a Warning, but They Don’t Want to Know What It Says
G Kolata, NY Times, January 21, 2022
What should happen when researchers, while sequencing a participant’s DNA as part of a large study, discover gene variants that increase the risk for conditions that might be prevented with medical treatment or surveillance? Some researchers believe they have an obligation to find the participants — often years after they provided a DNA sample — contact them, and tell them what they have found. But, some research subjects feel they have a right not to know. Is it ethical for doctors to let them insist they can opt out of learning more without first knowing the particular risk they are facing?