Accounting for polygenic background in conditions like hereditary breast cancer or Lynch syndrome can increase the accuracy of disease risk estimation.
Most of the disease risk carriers identified in the Healthy Nevada Project did not meet clinical guidelines for screening, according to the new analysis.
The Tapestry study will initially return genetic results for familial hypercholesterolemia, hereditary breast and ovarian cancer, and Lynch syndrome to patients.
Geisinger researchers will work with collaborators at the nonprofit FH Foundation to develop new methods for the identification and cascade testing of FH.
With exome sequences for tens of thousands of Finns, researchers identified deleterious variants linked to dozens of clinically relevant quantitative traits.
Starting in early 2019, Yale plans to sign up at least 100,000 patients to analyze their genomes and EHR data for research and return of clinically actionable results.
