Eckstein Lauren, Helm Benjamin M, Baud Rebecca, Francomano Clair A, Halverson Colin
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Center for Bioethics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
J Genet Couns. 2024 Dec;33(6):1215-1225. doi: 10.1002/jgc4.1834. Epub 2023 Nov 20.
The Ehlers-Danlos syndromes (EDS), a group of uncommon connective tissue disorders, are, paradoxically, an increasingly common referral to genetics specialists. Of the 13 types of EDS, the most common is hypermobile EDS (hEDS), which lacks a known genetic etiology and for which diagnosis is achieved via a robust set of clinical criteria. While previous investigations have characterized many clinical aspects of EDS as a syndrome and patients' lived experiences, a gap in the literature exists regarding clinicians' experience caring for these individuals. This study sought to understand the effects of hEDS patient referrals from genetic counselors' perspectives. To capture these novel views and values, we conducted semi-structured interviews with 15 participants who were members of the National Society of Genetic Counselors (NSGC) and had experience working with the hEDS patient population. Interview questions explored the frequency of hEDS referrals in their clinic, investigated their roles and responsibilities as genetic counselors when working with this population, analyzed their workflow for this indication, assessed the impacts on their professional satisfaction, and explored potential options for improving workflow and care for the hEDS patient population. Reflexive thematic analysis yielded four themes: (1) Referrals for hEDS have generally increased over time and many institutions have implemented new policies to control this influx, (2) genetic counselors' primary roles include education and addressing psychosocial matters for this population, (3) genetic counselors feel both rewarded and challenged by these referrals, and (4) genetic counselors call for more education and training on hEDS for all healthcare specialties. Our findings provide a better understanding of the goals of the hEDS patient referrals to genetics specialists and the opportunities and challenges those referrals present. Genetic counselors have specific training and skills in psychosocial counseling and communication, in some ways making them ideal care providers for this population. However, they are simultaneously a scarce resource and the complex medical issues presented by many patients with hEDS make multidisciplinary management essential. We conclude with potential avenues for improving interactions with this population.
埃勒斯-当洛综合征（EDS）是一组罕见的结缔组织疾病，但矛盾的是，它越来越多地被转诊至遗传学专家处。在13种EDS类型中，最常见的是关节过度活动型EDS（hEDS），其病因不明，通过一套完善的临床标准进行诊断。虽然之前的研究已将EDS的许多临床方面作为一种综合征以及患者的生活经历进行了描述，但关于临床医生照顾这些患者的经验，文献中存在空白。本研究旨在从遗传咨询师的角度了解hEDS患者转诊的影响。为了捕捉这些新颖的观点和价值观，我们对15名参与者进行了半结构化访谈，他们是美国国家遗传咨询师协会（NSGC）的成员，并有与hEDS患者群体合作的经验。访谈问题探讨了他们诊所中hEDS转诊的频率，调查了他们作为遗传咨询师在与该群体合作时的角色和职责，分析了针对该病症的工作流程，评估了对他们职业满意度的影响，并探讨了改善hEDS患者群体工作流程和护理的潜在选择。反思性主题分析产生了四个主题：（1）随着时间的推移，hEDS的转诊总体上有所增加，许多机构已实施新政策来控制这种涌入情况；（2）遗传咨询师的主要角色包括对该群体进行教育和处理心理社会问题；（3）遗传咨询师对这些转诊既感到有收获又面临挑战；（4）遗传咨询师呼吁为所有医疗专业提供更多关于hEDS的教育和培训。我们的研究结果有助于更好地理解hEDS患者转诊至遗传学专家的目的以及这些转诊带来的机遇和挑战。遗传咨询师在心理社会咨询和沟通方面接受过专门培训，在某些方面使他们成为该群体的理想护理提供者。然而，他们同时也是稀缺资源，许多hEDS患者出现的复杂医疗问题使得多学科管理至关重要。我们最后提出了改善与该群体互动的潜在途径。
