Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

作者: Honey V Reddi , Hannah Wand , Birgit Funke , Michael T Zimmermann , Matthew S Lebo

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摘要: Disclaimer: This Points to Consider document is designed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these Points to Consider is voluntary and does not necessarily assure a successful medical outcome. These Points to Consider should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the clinical laboratory geneticists should apply their own professional judgment to the specific circumstances presented by the individual patient or specimen.Clinical laboratory geneticists are encouraged to document in the patient’s record the rationale for the use of a particular procedure or test, whether or not it is in conformance with these Points to …

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