Transforming Genomics: Maximizing Community Input and Impact

Icahn School Of Medicine At Mount Sinai, New York NY

Investigators

Abstract

Advances in biobanking and the routine collection of personal data have created new opportunities to explore potential genomic associations with complex human traits. While such research offers potential benefits, it also raises ethical concerns, including the risk of misuse, restricted access to care, and implications for the use of reproductive technologies. This project aims to guide the field in order to maximize the benefits and minimize the harms of this type of research. There is an urgent need to inform how genomic data are collected, analyzed, and reported, especially in ways that are inclusive, ethical, and socially responsible. To maximize benefits and ensure that health disparity populations are included in research that can affect them, we emphasize that research should be conducted in partnership with impacted communities. Guided by a broadly representative Executive Stakeholder Board and workgroups—including community members, advocates, clinicians, and experts in ethics, law, genomics, and health—we will explore perspectives on the risks and benefits of studying complex human traits through a genomic lens. Our work will include: Identifying gaps in the literature and defining key ethical, legal, and social issues for inclusion in future guidelines; Conducting a mixed-methods study consisting of in-depth interviews, quantitative surveys, and listening sessions with key stakeholders (e.g., researchers, clinicians, ethical and legal scholars, IRB members); Convening a national Summit to develop guidelines and recommendations through a structured and inclusive engagement process. This project will contribute to all four NHGRI/ELSI priority research areas and result in the development of best practices and standards for conducting ethically sound genomic research. The Board, Workgroups, and Summit participants will form a national network to provide ongoing leadership and guidance in this evolving field.