Rates of diagnostic genetic testing in a tertiary ocular genetics clinic

ABSTRACT

Background

Clinical genetics has evolved significantly to become an efficient and effective means of diagnosing disease. Genetic treatments are now being developed which are showing promising results. However, ophthalmic patients are not utilizing genetic testing as part of their diagnostic workups. This paper explores the patient experience at the Ocular Genetics Clinic (OGC) at the University of Arkansas for Medical Sciences (UAMS) Jones Eye Institute and discusses reasons why patients continue to not pursue genetic testing.

Materials and methods

We performed a retrospective chart review to understand the main reasons why patients were referred to the OGC between 2009 and 2018, with a detailed analysis of why patients did not pursue genetic testing.

Results

Patients mainly did not undergo testing due to the cost of testing. However, patient availability, patient interest, and diagnostic workup also drove a significant amount of this lack of testing.

Conclusions

Ocular genetic testing is becoming an increasingly beneficial tool for diagnosing ocular disease. However, to date, patients do not utilize this service fully. At the OGC, there are several main drivers for this lack of testing, namely finances, interest/availability, and diagnostic workup. As more ocular genetics clinics are established, it will be imperative to address reasons for forgoing genetic testing and to develop strategies to encourage patients to pursue this testing.

KEYWORDS:

• Ocular genetics
• genetic testing
• patient experience
• finance
• patient interest

Acknowledgments

The authors would like to acknowledge Katy Willams, MS, CGC and Summar Tacket, COMT for their work in collecting patient information.

Authorship

All authors for this study meet the current ICJME criteria for authorship.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

This work was sponsored in part by an endowment from the Martha Wood Bentley Chair in Ophthalmology.