Inspiring New Science to Guide Healthcare in Turner Syndrome: Rationale, design, and methods for the InsighTS Registry

• Published in: American journal of medical genetics. Part A Vol. 194; no. 2; pp. 311 - 319
• Main Authors: Kanakatti Shankar, Roopa, Carl, Alexandra, Law, Jennifer R., Bamba, Vaneeta, Brickman, Wendy J., Prakash, Siddharth K., Dowlut McElroy, Tazim, Howell, Susan, Gutmark Little, Iris, Klein, Karen O., Pinnaro, Catherina T., Ranallo, Kelly, Good, Marybel, Davis, Shanlee M.
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01-02-2024; Wiley Subscription Services, Inc
• Subjects: Comorbidity; Delivery of Health Care; Genetic disorders; Health care; health care outcomes; Humans; monosomy X; Patient Acceptance of Health Care; Patients; Quality of Life; rare disease; Registries; registry; sex chromosome aneuploidy; Turner syndrome; Turner Syndrome - diagnosis; Turner Syndrome - epidemiology; Turner Syndrome - therapy; Turner's syndrome; health care outcomes; monosomy X; registry; rare disease; sex chromosome aneuploidy; Turner syndrome
• ISSN: 1552-4825; 1552-4833; 1552-4833
• DOI: 10.1002/ajmg.a.63441

Inspiring New Science to Guide Healthcare in Turner Syndrome (InsighTS) Registry is a national, multicenter registry for individuals with Turner syndrome (TS) designed to collect and store validated longitudinal clinical data from a diverse cohort of patients with TS. Herein, we describe the rationale, design, and approach used to develop the InsighTS registry, as well as the demographics of the initial participants to illustrate the registry's diversity and future utility. Multiple stakeholder groups have been involved from project conceptualization through dissemination, ensuring the registry serves the priorities of the TS community. Key features of InsighTS include recruitment strategies to facilitate enrollment of participants that appropriately reflect the population of individuals with TS receiving care in the US, clarity of data ownership and sharing, and sustainability of this resource. The registry gathers clinical data on diagnosis, treatment, comorbidities, health care utilization, clinical practices, and quality of life with the goal of improving health outcomes for this population. Future directions include multiple patient‐centered clinical‐translational research projects that will use the InsighTS platform. This thorough and thoughtful planning will ensure InsighTS is a valuable and sustainable resource for the TS community for decades to come.