Inherited retinal degeneration current genetics practices - a needs assessment.

Area of Science:

• Ophthalmology
• Medical Genetics

Background:

• Clinical assessment for inherited retinal diseases (IRDs) involves medical/ocular history, family history, and genetic testing.
• Previous research indicates unmet genetic counseling needs in IRD patients.
• Limited literature exists on current genetics practices among US ophthalmologists and optometrists for IRDs.

Purpose of the Study:

• To assess current genetics-related practices provided to patients with IRD by eye care professionals.
• To identify limitations in current genetics discussions and referral patterns for IRD patients.

Main Methods:

• A survey was administered to 51 ophthalmologists and optometrists.
• The survey assessed current risk counseling practices, confidence in ocular genetics, and resource utilization.
• Descriptive statistics and thematic analysis of open-ended responses were used.

Main Results:

• Some genetics discussions occur with IRD patients, but are limited by time and understanding of IRD genetics/testing.
• Referrals to genetic counseling are minimal, despite expressed interest in collaboration.
• There is a recognized need for ongoing education on IRD genetics.

Conclusions:

• Further large-scale studies are needed to understand genetics practices in IRD care.
• Identifying areas where genetic counselors can support IRD patient care is crucial.