Faculty Opinions recommendation of Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.
Year: 2018
Type: peer-review
Abstract: A key public health need is to identify individuals at high risk for a given disease to enable enhanced screening or preventive therapies.Because most common diseases have a genetic component, one important approach is to stratify individuals based on inherited DNA variation.1 Proposed clinical applications have largely focused on finding carriers of rare monogenic mutations at several-fold increased risk.Although most disease risk is polygenic in nature, 2-5 it has not yet been possible to use polygenic predictors to identify individuals at risk comparable to monogenic mutations.Here, we develop and validate genome-wide polygenic scores for five common diseases.The approach identifies 8.0%, 6.1%, 3.5%, 3.2% and 1.5% of the population at greater than three-fold increased risk for coronary artery disease (CAD), atrial fibrillation, type 2 diabetes, inflammatory bowel disease, and breast cancer, respectively.For CAD, this prevalence is 20-fold higher than the carrier frequency of rare monogenic mutations conferring comparable risk.
Author: Joseph Lachance
Institution: Georgia Institute of Technology
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4253887197