Guidelines & Standards

Guidelines for investigating causality of sequence variants in human disease

guidelines“The discovery of rare genetic variants is accelerating, and clear guidelines for distinguishing disease-causing sequence variants from the many potentially functional variants present in any human genome are urgently needed. […] We propose guidelines for summarizing confidence in variant pathogenicity and highlight several areas that require further resource development.”

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EMA guideline on key aspects for the use of pharmacogenomic methodologies in the pharmacovigilance evaluation of medicinal products

EMA guideline 2

“This guideline addresses the influence of pharmacogenomics on pharmacovigilance activities, including considerations on how to evaluate the pharmacovigilance related issues for medicinal products with pharmacogenomic associations, and how to translate the results of these evaluations to appropriate treatment recommendations in the labeling.”

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EMA guideline on the use of pharmacogenetic methodologies in the pharmacokinetic evaluation of medicinal products

EMA guideline 1

“This guideline addresses the influence of pharmacogenetics on drug pharmacokinetics, encompassing considerations and requirements for the design and conduct of investigations during drug development.”

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OECD-Guidelines on human biobanks and genetics research databases

OECD guidelines “This document aims to provide guidance for the establishment, governance, management, operation, access, use and discontinuation of human biobanks and genetic research databases, which are structured resources that can be used for the purpose of genetic research and which include: (a) human biological materials and/or information generated from the analysis of the same; and (b) extensive associated information.”

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