Vanderbilt Genome-Electronic Records (VGER) Project

Vanderbilt University Medical Center, Nashville TN

Investigators

Linked publications & trials

Abstract

It is critical to collect gender identity data to ensure affirming and equitable genetics care for transgender, gender diverse, and sex diverse (TGSD) patients. Further, a person’s phenotypic sex (expression of primary, secondary, and endocrinological sex characteristics), chromosomal sex, and organ/tissue inventory can directly impact crucial aspects of testing and care recommendations. However, TGSD individuals can experience psychosocial and clinical harms if gender/sex data collection and related care are not culturally competent and accurate. Realistic fears about such harms could deter TGSD individuals from participating in clinical research, and enrolled TGSD participants may experience harms from participation if data models and study processes do not appropriately account for these variables. Automated processes are increasingly used to streamline care and reduce health system burden, yet these processes increase the risk of misgendering participants or providing clinically inappropriate recommendations if these data are not accurate. The Electronic Medical Records and Genomics (eMERGE) Network is collecting sex/gender data at two points with different question/response options, offering an opportunity to evaluate the impact of a large electronic health record (EHR)-integrated genomics research study on TGSD individuals. The Network is evaluating the influence of a novel EHR-integrated integrated genome-informed risk assessment (GIRA) report on clinical care in 25,000 patients across 10 sites. The GIRA relies on data in the sex field to automate inclusion of recommendations on the report for certain conditions, and as a result has the potential to negatively impact TGSD participants. In this supplement application to the Vanderbilt Genome-Electronic Records (VGER) Project, which supports the Vanderbilt University Medical Center site of the eMERGE Network, we will use in- depth semi-structured qualitative interviews to investigate the impact of the eMERGE data collection, data usage, and processes on the validity of the GIRA for TGSD individuals and on potential psychosocial and clinical harms from the study on this population. We will use information gleaned in these interviews to develop a best practice guide for genomics research involving TGSD populations and propose a model for data collection that can support such research while remaining culturally competent and accurate. This model will be included in the FHIR specification for the GIRA. This supplement directly supports the overall project goals to validate and improve upon the GIRA.