Spreading the Word: Communicating Evidence-Based Guidelines About Turner Syndrome to Patients, Parents, Providers, and Payors

Am J Med Genet C Semin Med Genet. 2025 Jan 13:e32129. doi: 10.1002/ajmg.c.32129. Online ahead of print.

Abstract

Given the overwhelming volume of medical information, medical guidelines play a key role in informing clinicians and payors and guidelines directly affect how patients, and their families will be treated. In this review, we describe the production cycle of international guidelines for Turner syndrome (TS) and promote the timely and proactive dissemination of these guidelines. We encourage deliberate adoption of an updated standard of care by providers, payors, patients and their families, and professional organizations.

Keywords: Turner syndrome; advocacy organizations; clinical guidelines; marketing; support groups.