Reading Mendelian randomisation studies: a guide, glossary, and checklist for clinicians

Summary

This 2018 BMJ paper is a methodological guide for clinicians interpreting Mendelian randomisation studies—an approach using genetic variants as instrumental variables to infer causality between modifiable risk factors and disease. The authors provide a structured glossary and checklist to help practitioners evaluate the validity and limitations of such studies, particularly regarding the assumptions required for causal inference. The paper serves as a critical resource for appraising the growing body of Mendelian randomisation evidence in clinical and epidemiological research.

UK applicability

This methodological guidance is directly applicable to UK clinical practice and policy, as Mendelian randomisation studies are increasingly informing nutritional and public health recommendations in UK and international settings. The checklist and interpretative framework can support UK researchers and clinicians in critically evaluating causal claims from genetic studies relevant to food, farming, and health policy.

Key measures

Methodological criteria for evaluating Mendelian randomisation study design, assumptions, and validity; guidance on interpretation of causal estimates

Outcomes reported

The paper provides guidance on interpreting and critically appraising Mendelian randomisation studies, which use genetic variants as natural experiments to infer causal relationships between modifiable risk factors and disease outcomes.

Topic tags