Methodological opportunities in genomic data analysis to advance health equity.

The causes and consequences of inequities in genomic research and medicine are complex and widespread. At this crucial time point, it is important to clarify where improvements in methods and practices can, or cannot, have a role in improving equity in genomics.

⚡ This is an original paraphrased summary — not copied from the abstract. Full paper available at the source link below.

• 1 However, it is widely acknowledged that underrepresentation of diverse populations in human genetics research risks exacerbating existing health disparities.
• 2 Efforts to improve diversity are ongoing, but an often-overlooked source of inequity is the choice of analytical methods used to process, analyse and interpret genomic data.
• 3 This choice can influence all areas of genomic research, from genome-wide association studies and polygenic score development to variant prioritization and functional genomics.

Understanding this could lead to better treatments, improved diagnostics, or a deeper grasp of how the human body works — benefiting patient care globally.

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