STrengthening the REporting of Genetic Association studies (STREGA) – an extension of the STROBE statement

TLDR

Rapidly evolving evidence on genetic associations is essential for human genomics and its integration into medicine and public health, yet inadequate reporting hampers assessment of its strengths and weaknesses. STREGA extends the STROBE Statement by adding 12 items to its 22‑item checklist to improve reporting of genetic association studies. The added items address population stratification, genotyping errors, haplotype modelling, Hardy–Weinberg equilibrium, replication, participant selection, gene/variant rationale, treatment effects on quantitative traits, statistical methods, relatedness, descriptive and outcome data reporting, and data volume issues, aiming to enhance transparency without prescribing study design.

Abstract

Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association studies (STREGA) initiative builds on the STrengthening the Reporting of OBservational Studies in Epidemiology (STROBE) Statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modelling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed, but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct or analysis.