An evaluation of practices and policies used in genetics clinics across the United States to manage referrals for Ehlers-Danlos and hypermobility syndromes

Abstract

Purpose: Hypermobile Ehlers-Danlos syndrome (hEDS) and joint hypermobility syndrome (JHS), among other conditions, comprise a collection of heritable disorders of connective tissue. There are recognized challenges in diagnosing JHS/hEDS. Despite a lack of identifiable molecular etiology for these conditions, referrals to medical geneticists for evaluation are commonplace, and they continue to rise. Because of an absence of nationally recognized referral guidelines for JHS/hEDS, health care institutions are left to develop their own policies. The purpose of our study was to characterize these ad hoc policies systematically and at a nationwide level. Methods: We conducted a mixed-methods study of 71 board-eligible or board-certified genetic counselors, including 15 qualitative interviews. Results: Cross-case analysis revealed multiple motivations for creating these policies, methods to more effectively manage referrals for hypermobility and concern for EDS, and participants' evaluations of the successes and shortcomings of these policies at their institutions. We found diverse and unstandardized policies that were meant to address numerous perceived challenges. This lack of standardization is a concern because it may result in inconsistent access to care for patients with JHS/hEDS and create barriers to diagnosis and treatment. Conclusion: Our findings demonstrate that policies vary widely, and genetic counselors are concerned about the potential impact of this variability on the quality of care for patients with JHS/hEDS.