One of the most exciting and promising areas of eye care is using our knowledge about the human genome to help test, diagnose and even treat genetic-based disease.

As genetic testing is a new segment of patient care, however, this also means there is a learning curve. In this case, however, I have been pleasantly surprised that when it came to genetic testing my (amazing) staff played an instrumental role in successfully adding this new type of care into my practice.

Genetic testing in ophthalmology is in its infancy. One of the early genetic-based tests in eye care is AvaGen (Avellino), which I have incorporated into my practice. AvaGen tests for both keratoconus and TGFBI (or transforming growth factor beta-induced) corneal dystrophies and has been a valuable addition and complement to my existing diagnostic instruments and tools. For keratoconus, the test result is called a polygenic risk score (PRS) and, as the name implies, is a score between zero and 100 and divided into low, medium, and high-risk ranges.

It is critical that the practicing doctor and the staff be trained and be familiar with the genetic testing process. This article will focus on incorporating these tests at the staff level using our experience with AvaGen as an example.

The process

The testing process begins when I recommend a patient take the AvaGen test. Based on imaging and other eye examination elements, I will recommend the test for two main reasons: If I suspect or am aware a patient may have a family member with keratoconus or if a patient looking for refractive surgery has any suspicious findings via diagnostic testing.

Once the patient and I align on administering the test, my technician takes the lead. The technician starts by ensuring the patient fills out the paperwork completely. The paperwork includes completing a test requisition form (TRF) that obtains patient signatures for informed consent for genetic testing; a good faith estimate of services; patient billing information; and information the laboratory needs to properly sequence the genetic specimen. This includes a barcoded specimen label that needs to be completed and adhered to the specimen vial. It is important the TRF is filled out completely and accurately so the patient sample can be run in the laboratory.

The technician then takes the cheek swab sample needed to run the test, which includes thoroughly swabbing the cheeks for several seconds, and properly packaging the sample so it can be mailed to Avellino’s lab.

The results are in

Once the test is processed in the lab, the results are uploaded to a HIPAA-compliant portal and an email notice is sent to inform the results are available. My technician or I review the test results, and someone on our team follows up with the patient on the results or schedules an office visit with the patient.

On the call, we review the genetic test results and may ask the patient to come in for an in-person review (if they are not already scheduled) to continue the dialogue and go over my recommended treatment pathway. As appropriate, I also include the complimentary genetic counseling offered, where a genetic counselor can further review the test results with the patient and answer any of their questions related to the genetic findings on the report.

Empowering your staff

My team is filled with professionals who are skilled in incorporating genetic testing. To maximize their role, I empower my staff to take on this responsibility and remind them that the patient is entrusting them as part of their overall care, which each staff member takes to heart.

My staff were trained for their distinct role via a comprehensive, online instructional video that covers all aspects of the test collection process, including specimen collection, required paperwork, and mailing and reporting instructions. The online training is followed by an in-person review with a member of the Avellino team, which ensures the staff has a solid understanding of their role and provides them an opportunity to ask questions. The staff are also reminded of their critical role in ensuring each provider and patient has a positive experience with the testing process and that the test is just one part of the patient’s treatment journey.

Conclusion

With genetic testing for inherited retina disease (Spark Therapeutics) as well as Avellino’s upcoming test for glaucoma, the future of genetic solutions is bright.

Genetic testing allows me to expand my level of care, and I am grateful for my staff and their willingness to play an even greater role in supporting our patients. I look forward to continuing to involve them in this segment of patient care. OP