Response to Li and Hopper.

American journal of human genetics(2023)

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To the Editor: We are thankful for and appreciate the interest shown by Li and Hopper toward our study. 1 Mars N. Lindbohm J.V. Della Briotta Parolo P. Widén E. Kaprio J. Palotie A. Ripatti S. FinnGenSystematic comparison of family history and polygenic risk across 24 common diseases. Am. J. Hum. Genet. 2022; 109: 2152-2162 Abstract Full Text Full Text PDF PubMed Scopus (9) Google Scholar Our main aim was to answer with systematic evaluations the question frequently encountered with translational research of polygenic risk scores (PRSs): why do we need PRSs if we have information on family history? Surveying family history has been a part of clinical risk estimation in many diseases for decades, making the question highly relevant as genetic profiling data becomes commonly available. Our findings show empirically that family history and PRSs provide complementary information for risk assessment and that their effects are largely independent of each other. A practical example case is that in siblings with equal risk based on parental family history, a PRS can provide a more precise risk estimate.
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