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Chunk #42 — Role of direct-to-consumer testing

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Polygenic risk scores: from research tools to clinical instruments.
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The accuracy and generalisability of any PRS model need to be validated with external data, but even when the scientific basis is robust, the correct, unbiased interpretation of risk profiles by the consumers will need to be evaluated. The extent to which DTC genetic testing will move polygenic risk scores into the clinical arena is unknown. For example, patients bringing their DTC results may motivate conversations between primary care physicians and patients on health education.