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Genomics researchers have unveiled a new set of reporting standards for the calculation of a person’s disease risk based on their genetic profile. Known as a polygenic risk score, this number attempts to quantify the contribution of multiple genetic variants to someone’s likelihood of developing conditions such as breast cancer or coronary heart disease. Generally speaking, a single mutation will have little effect on risk, but an agglomeration of mutations could boost the odds. The new standards aim to codify the way that researchers report their work about polygenic risk scores so that this work is comprehensible and usable by others.
“The framework that has been proposed here is coming from very reputable groups . . . who really have sat down and thought about how we define the terms of the field. This is what I find very exciting about it,” says Eimear Kenny, the ...
