PROJECT SUMMARY Transgender and gender diverse (TGD) people—individuals whose gender identity differs from the sex they were assigned at birth—comprise approximately 1.6% of U.S. adults. Gender identity represents one’s concept of self and can be the same as one’s sex assigned at birth (cisgender), different from one’s sex assigned at birth (transgender), or beyond traditional classifications (non-binary, gender fluid, gender diverse). TGD populations are disproportionately burdened by physical and mental health inequities and are a designated NIH health disparities population. The recent explosion of biobanking, and more routine collection of gender identity data and affords an opportunity to study possible genomic associations with gender identity. Such research could affirm gender identity, or be used to pathologize and discriminate, limit access to care, or influence the use of reproductive technologies. We aim to guide the field in order to maximize benefit and minimize harm of such studies and meet a time sensitive need to inform how genomic data are collected, analyzed, and reported to benefit diverse TGD populations and to advance scientific understanding. Research on genomics and gender identity should be conducted with, and not on TGD communities to ensure that we do not repeat past wrongs, for example excluding racial/ethnic populations from the conduct and reporting of research that impacts these populations and further reifying stereotypes and stigma. In partnership with and guided by a racially, ethnically, professionally and geographically diverse Executive Stakeholder Board and workgroups consisting of TGD community members, advocates, clinicians, and ethics, legal, and genomics and health equity scholars, we will explore perspectives on the potential risks and benefits of studying genomic associations with gender identity. Together we will: 1) assess gaps in the literature and define ELSI themes for further exploration and inclusion in the Guidelines; 2) conduct a sequential mixed-methods study comprised of in-depth qualitative interviews with TGD community members (N=40); quantitative surveys with TGD community members (N=400); and listening sessions with key stakeholders (genomics researchers, TGD- serving clinicians, ethical and legal scholars, institutional review board members) (N=32); and 3) convene a larger Summit to develop the Guidelines. We will use a formal process of deliberative engagement led by a facilitator with experience in facilitated dialogue in TGD communities to identify priorities, resolve conflicts, make decisions, develop guidelines and recommendations, and widely disseminate these to policy, research and TGD communities This project will address aspects of all four NHGRI/ELSI priority research areas. Our work will result in standards and best practices to guide genomic research about gender identity. Our Board, Workgroups and Summit participants will function as a national network to provide ongoing cons...