Rates of diagnostic genetic testing in a tertiary ocular genetics clinic

Area of Science:

• Ophthalmic genetics
• Clinical genetics
• Patient experience research

Background:

• Clinical genetics is advancing for disease diagnosis and treatment.
• Ophthalmic patients are underutilizing available genetic testing services.
• The Ocular Genetics Clinic (OGC) at UAMS Jones Eye Institute investigates this underutilization.

Purpose of the Study:

• To explore patient experiences at the OGC.
• To identify reasons why ophthalmic patients do not pursue genetic testing.
• To understand barriers to genetic testing adoption in ophthalmology.

Main Methods:

• Retrospective chart review of patients referred to the OGC.
• Analysis of patient data from 2009 to 2018.
• Detailed examination of reasons for not pursuing genetic testing.

Main Results:

• The primary reason for not undergoing genetic testing was the cost.
• Other significant factors included patient availability, patient interest, and diagnostic workup considerations.
• These factors collectively limited the uptake of genetic testing.

Conclusions:

• Ocular genetic testing is a valuable diagnostic tool for eye diseases.
• Significant barriers, including cost and patient-related factors, hinder its full utilization.
• Strategies are needed to encourage patient uptake of genetic testing as OGCs expand.