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The need for polygenic score reporting standards in evidence-based practice: lipid genetics use case
Author(s) -
Hannah Wand,
Joshua Knowles,
Shoa L. Clarke
Publication year - 2021
Publication title -
current opinion in lipidology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.412
H-Index - 124
eISSN - 1473-6535
pISSN - 0957-9672
DOI - 10.1097/mol.0000000000000733
Subject(s) - generalizability theory , population , medicine , risk analysis (engineering) , psychology , environmental health , developmental psychology
Polygenic scores (PGS) are used to quantify the genetic predisposition for heritable traits, with hypothesized utility for personalized risk assessments. Lipid PGS are primed for clinical translation, but evidence-based practice changes will require rigorous PGS standards to ensure reproducibility and generalizability. Here we review applicable reporting and technical standards for dyslipidemia PGS translation along phases of the ACCE (Analytical validity, Clinical validity, Clinical utility, Ethical considerations) framework for evaluating genetic tests.

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