Carbone Kaycee, Seman Ann, Clinton Catherine, Pelletier Renée
MGH Institute of Health Professions, Genetic Counseling Program, Boston, Massachusetts, USA.
Helix OpCo, LLC, San Mateo, California, USA.
J Genet Couns. 2025 Aug;34(4):e70077. doi: 10.1002/jgc4.70077.
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.
埃勒斯-当洛综合征（EDS）是一组遗传性结缔组织疾病，患者很难及时获得准确诊断。过度负担的遗传学诊疗机构已被视为护理的障碍。分诊是遗传学诊疗机构用来解决工作量问题并对高危患者进行优先排序的工具。通过一项人口统计学调查和半结构化访谈，本研究旨在探讨美国各地向遗传学诊疗机构转诊EDS患者时存在哪些分诊方式，以及遗传咨询师如何看待这些分诊方式。采用归纳编码和传统内容分析法对15份访谈记录进行分析并确定类别。分析得出了六个类别：EDS转诊及遗传学预约资格标准；分诊的制定、流程及工具；影响分诊的因素；分诊目标及其对诊所的影响；分诊对患者护理的影响；以及未来目标和期望的变化。许多参与者指出，对EDS的认识和转诊普遍有所增加。本研究发现，诊所采用独特的分诊流程，包括特定的转诊要求和分诊工具，如拒绝信和患者问卷。指出影响分诊的因素包括诊所接待患者的门槛、遗传学服务提供者的感知执业范围、附近缺乏其他合适的诊疗机构以及诊所资源有限。参与者确定了他们分诊的几个好处，并认为这达到了诊所的目标。然而，也指出了一些缺点，包括接受评估的患者和被拒绝的患者（如过度活动型EDS [hEDS]）在护理上存在差异。一些参与者报告说，拒绝hEDS患者时会感到内疚，因为他们往往缺乏良好的诊断和管理选择，必须进行系统性变革以改善对hEDS患者群体的护理。本研究发现，美国各地影响EDS遗传学分诊的目标、组成和因素各不相同。虽然EDS分诊有许多积极方面，但遗传咨询师及其诊疗机构需要探索改善所有EDS患者护理的方法。
