Promoting equity in polygenic risk assessment through global collaboration.

Area of Science:

• Genomics
• Global Health
• Bioethics

Background:

• Genomic technologies offer significant health benefits, including improved disease risk prediction.
• Delays in accessing these technologies in low- and middle-income countries (LMICs) raise scientific and ethical concerns.
• Current polygenic risk scores (PRSs) show limited portability across diverse populations, potentially exacerbating health inequities.

Purpose of the Study:

• To highlight the urgent need for global collaboration in developing and implementing polygenic risk scores (PRSs).
• To advocate for equitable PRS performance across diverse global populations.
• To address the challenges and requirements for achieving global equity in genomic medicine.

Main Methods:

• This perspective synthesizes current challenges and proposes a framework for equitable PRS development.
• It emphasizes the necessity of capacity building and data generation in low-resource settings.
• It calls for secure data sharing, advanced statistical methods, and ethical implementation strategies.

Main Results:

• Current PRS models exhibit performance disparities across different ancestral groups.
• The lack of diverse data limits the generalizability and clinical utility of PRSs globally.
• Addressing these limitations requires a concerted global effort involving multiple stakeholders.

Conclusions:

• Global collaboration is essential to ensure polygenic risk scores (PRSs) benefit all populations equitably.
• Capacity building, diverse data generation, and ethical considerations are critical for successful implementation.
• Policy and funding support are necessary to bridge the gap in genomic medicine access and application worldwide.