Department of Ophthalmology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.
Casey Eye Institute Ophthalmic Genetics, Oregon Health and Science University, Portland, Oregon, USA.
Ophthalmic Genet. 2023 Dec;44(6):553-558. doi: 10.1080/13816810.2023.2239910. Epub 2023 Aug 2.
Genetic counselors (GCs) have practiced in Inherited Retinal Disease (IRD) clinics for several decades. In this small subspecialty of genetic counseling, GCs are critical for patient understanding of genetic information, which can have prognostic, systemic, family planning and therapeutic implications. Recently, both access to genetic testing for IRDs and the number of genes associated with IRDs (>350) has increased dramatically. However, the practice models and roles of IRD GCs have not been previously described.
GCs working in academic IRD clinics were surveyed to assess their experience, clinical practices, and roles performed. The collected data was compared to the broader genetic counseling profession and to other specialties using publicly available data on GC professional practices.
While roles of IRD GCs were overlapping with those of the overall genetic counseling profession, all survey respondents reported diverse roles that included both clinical and non-clinical duties, spending up to half their time on research and educational responsibilities. Most respondents (89%) felt that their clinic's MD to GC ratio was too high, while clinical load varied. IRD GCs report varying degrees of prior genetic counseling and ophthalmology-specific experience but unanimously desire additional subspecialty-specific training.
This descriptive assessment of a small subspecialty suggests a need for growth in the number of GCs practicing in IRD clinics and could help to inform development of new GC positions in IRD centers. It also highlights the desire for additional GC-specific education and may be relevant to curriculum development within GC programs.
遗传咨询师（GCs）在遗传性视网膜疾病（IRD）诊所工作已有几十年。在这个遗传咨询的小分支领域中，GCs 对于患者理解遗传信息至关重要，因为遗传信息可能具有预后、系统、计划生育和治疗意义。最近，IRD 的基因检测的可及性和与 IRD 相关的基因数量（>350）都有了显著的增加。然而，IRD GC 的实践模式和角色尚未被描述过。
对在学术性 IRD 诊所工作的 GC 进行了调查，以评估他们的经验、临床实践和所扮演的角色。收集的数据与更广泛的遗传咨询专业和其他专业进行了比较，这些比较是使用 GC 专业实践的公开数据进行的。
尽管 IRD GC 的角色与整个遗传咨询专业重叠，但所有调查对象都报告了多样化的角色，包括临床和非临床职责，他们将高达一半的时间用于研究和教育职责。大多数受访者（89%）认为他们诊所的 MD 与 GC 的比例过高，而临床工作量则有所不同。IRD GC 报告了不同程度的先前遗传咨询和眼科专业经验，但一致希望获得更多的专业特定培训。
对一个小分支领域的描述性评估表明，需要增加在 IRD 诊所工作的 GC 数量，这可能有助于为 IRD 中心的新 GC 职位的发展提供信息。它还强调了对特定于 GC 的教育的需求，这可能与 GC 项目的课程开发相关。
