Adapting PRISMA Guidelines to Enhance Reporting Quality in Genetic Association Studies: A Framework Proposal

Area of Science:

• Genetics and Bioinformatics
• Epidemiology
• Biostatistics

Background:

• Genetic association studies are crucial for understanding disease etiology.
• Current reporting standards often lack the specificity required for complex genetic data.
• Inconsistent reporting hinders reproducibility and the validation of findings.

Purpose of the Study:

• To propose an adapted framework of the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines.
• To enhance the quality, reproducibility, and transparency of genetic association studies.
• To address specific challenges in reporting genetic data, including population stratification and variant details.

Main Methods:

• Conducted a systematic review of case-control and cohort studies on single nucleotide polymorphisms (SNPs) and gene expression.
• Examined methodologies, population stratification, phenotype definitions, and ethical considerations.
• Performed expert consultations to refine reporting recommendations.

Main Results:

• Adapted PRISMA guidelines improved study reproducibility from 34% to 67%.
• Population stratification reporting issues decreased significantly (42% to 18%, p<0.01).
• Comprehensive genetic variant reporting increased from 50% to 85%.

Conclusions:

• Customized PRISMA adaptations significantly enhance the methodological quality and ethical standards of genetic association studies.
• The proposed framework improves the integrity, validity, comparability, and reproducibility of genetic research findings.
• These advancements are critical for personalized medicine and public health initiatives.