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Chunk #41 — Role of direct-to-consumer testing

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Polygenic risk scores: from research tools to clinical instruments.
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genetic testing, MyHeritage (https://www.myheritage.com/health/genetic-risk-reports) provides polygenic risk scores on four traits, ‘for people who are of mainly European ancestry’. The most detailed assessment of PRS in a DTC setting is from 23andMe, whose white paper presents their epidemiological modelling and the challenges of deriving individual-level absolute disease risks from PRS [67]. 23andMe provides polygenic risk scores for type 2 diabetes; based on external validation, their models have AUC values of between 59 and 65%, similar to those obtained from research studies [87]. Their customer reports give an estimate of the remaining lifetime risk of T2D based on genetics, age, and ancestry, with additional information on how BMI, diet, and exercise habits affect T2D prevalence.