A qualitative investigation of Ehlers-Danlos syndrome genetics triage

Abstract

The Ehlers-Danlos syndromes (EDS) are a group of hereditary connective tissue disorders for which patients struggle to find a timely and accurate diagnosis. Overburdened genetics practices have been identified as a barrier to care. Triage is a tool utilized by genetics practices to address workload issues and prioritize high-risk patients. Through a demographic survey and semi-structured interviews, this study aimed to explore what triages exist for EDS referrals to genetics practices across the United States and how genetic counselors perceive their triages. Inductive coding and conventional content analysis were used to analyze fifteen interview transcripts and identify categories. Six categories emerged from the analysis: EDS referrals & genetics appointment eligibility criteria; triage development, processes & tools; factors influencing triage; triage goals and impact on the clinic; triage impact on patient care; and future goals & changes desired. Many participants noted a general increase in EDS awareness and referrals. This study identified that clinics employ unique triage processes including specific referral requirements and triage tools such as decline letters and patient questionnaires. Factors noted to influence triage included the clinic's threshold to see patients, perceived scope of practice for genetics providers, lack of other appropriate practices nearby, and limited clinic resources. Participants identified several benefits of their triage and felt that it was meeting their clinic's goals. However, several disadvantages were noted including a discrepancy in care for patients who were accepted for evaluation and those who were declined (e.g., hypermobile EDS [hEDS]). Several participants reported feelings of guilt with declining hEDS patients as they often lack good diagnosis and management options and that systemic change must occur to improve care for the hEDS population. This study identified that the goals, composition, and factors affecting EDS genetics triages across the United States vary. While many positive aspects of EDS triage exist, there is a need for genetic counselors and their practices to explore ways to improve care for all EDS patients.

Keywords: Ehlers‐Danlos syndrome; genetic counseling; genetics triage; hypermobile Ehlers‐Danlos syndrome; triage.