Emerging challenges and opportunities in genetic counseling for inherited retinal diseases

Genetic counselors (GC) specializing in Inherited Retinal Diseases (IRD) face unique challenges and opportunities due to the rapidly evolving landscape of genetic testing and the growing number of genes associated with IRDs, according to a study that emphasizes the need for increased numbers of IRD genetic counselors to address the expanding demands of this specialized field.

A comprehensive survey was conducted to assess the experiences, practices, and responsibilities of GCs operating within academic IRD clinics. The data collected not only illuminated the landscape within this subspecialty but also enabled intriguing comparisons with broader genetic counseling practices and other medical specialties.

The findings revealed that although there are overlaps between the roles of IRD GCs and the general genetic counseling profession, there exist distinctive features that set IRD genetic counseling apart. Respondents reported an assortment of responsibilities encompassing both clinical and non-clinical tasks; up to half of their time was dedicated to research and educational endeavors, underlining the multi-faceted nature of their work.

A notable observation from the study was the unanimous sentiment among IRD GCs regarding the high MD to GC ratio in their clinics. A significant majority (89%) expressed concerns over this disparity, prompting thoughts about optimal distribution of responsibilities to ensure efficient patient care. Furthermore, the clinical workload of IRD GCs displayed variation, signifying the intricate nature of the cases they handle.

Reference
Alabek M, Andersen K, Everett L, et al. The genetic counselor workforce in inherited retinal disease clinics: a descriptive assessment. Ophthalmic Genet. 2023;1-6. doi: 10.1080/13816810.2023.2239910. Epub ahead of print. PMID: 37530443.