Related Experiment Videos
Structured tools for assessing quality and risk of bias in Mendelian randomization studies: an updated systematic
Jinyue Yu1,2,3, Mengxuan Zou1, Francesca Spiga1
1Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, United Kingdom.
Background:
The growing use of Mendelian randomization (MR) has heightened the need for rigorous quality and bias assessment tools. A previous systematic review included studies published up to July 2021 identified 14 structured instruments for conducting, evaluating, and reporting MR studies. However, methodological developments have accelerated in the years since.
Methods:
We updated the previous systematic review to include tools published between July 2021 and January 2025, applying the same search strategy and eligibility criteria. Two reviewers independently screened articles, extracted data, and mapped tool content to bias domains.
Results:
We identified 15 additional articles, bringing the total to 29 tools. Of these 29, 19 provided structured evaluation tools. Twelve of the 19 evaluation tools were newly added in the present review, which addressed broader methodological domains beyond core instrumental variable assumptions, including genetic instrument selection, population stratification, sensitivity analyses, and dataset considerations. However, substantial variation in bias domains, structure, and scoring methods across tools persists. Key gaps remain in the assessment of linkage disequilibrium, missing data, and dynastic effects.
Conclusions:
While the number of structured tools has increased in recent years, the lack of standardization across tools makes it difficult to compare across systematic reviews of MR studies. Developing more complete and standardized evaluation frameworks and properly testing these tools in practice are important next steps to improve the overall quality of MR research.
Insights
The number of Mendelian randomization (MR) quality assessment tools has increased, but a lack of standardization hinders comparisons across studies. Developing standardized frameworks is crucial for improving MR research quality.
Area of Science:
- Epidemiology
- Genetic Epidemiology
- Biostatistics
Background:
- Mendelian randomization (MR) is increasingly used, necessitating robust quality and bias assessment tools.
- A prior review identified 14 MR instruments up to July 2021.
- Methodological advancements have continued since the last review.
Purpose of the Study:
- To update a systematic review of MR quality and bias assessment tools.
- To identify tools published between July 2021 and January 2025.
Main Methods:
- An updated systematic review was conducted using the previous search strategy and eligibility criteria.
- Two reviewers independently screened articles, extracted data, and mapped tool content to bias domains.
Main Results:
- Fifteen additional articles were identified, totaling 29 MR tools.
- Nineteen of these tools provide structured evaluations, with twelve being newly identified.
- Newer tools cover broader domains beyond core assumptions, but significant variation in structure and scoring persists.
- Gaps remain in assessing linkage disequilibrium, missing data, and dynastic effects.
Conclusions:
- The increase in MR evaluation tools is noted, but standardization is lacking.
- Lack of standardization impedes comparisons across systematic reviews.
- Developing comprehensive, standardized evaluation frameworks is essential for enhancing MR research quality.
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