Abstract
Purpose :
Inherited Retinal Diseases (IRDs) are a group of rare genetic disorders that require a detailed approach and workflow for diagnosis. To facilitate optimal patient care while minimizing the hazard of direct person-to-person exposure during the COVID-19 pandemic, we developed a telehealth management protocol, or telegenetics, for complete or hybrid virtual visits.
Methods :
Our telegenetics protocol comprised of three key components: (1) Digitization of diagnostic imaging and electrophysiological testing for review by physicians remotely; (2) Telemedicine video visits performed using MyHealth, a Health Insurance Portability and Accountability Act (HIPAA) compliant platform. (3) Complete shift to remote genetic testing using IRB-approved e-consents (electronic consent forms) and remote genetic testing saliva kits.
Results :
Telegenetic care was provided for 113 patients, including 3 international patients (age range: 5-99 years). During the first eight months of this program, 25 return and 28 new patient evaluations were completed virtually. Sixty patients were seen in a hybrid manner (45 new and 15 return), where an in-person clinic visit was performed followed by remote consenting, and saliva collection, genetic testing, and genetic counseling. A spectrum of retinal dystrophies were diagnosed and pathogenic mutations were detected in several genes, including genes approved or under-investigation for gene therapy like RPE65, CHM, and RPGR. Four patients with cystoid macular edema were successfully treated with topical dorzolamide, and 26 were referred for low-vision rehabilitation
Conclusions :
Telegenetic services have proved to be a useful tool during the COVID pandemic. They provide a safer alternative by limiting the exposure of patients and staff to the virus while maintaining the same high quality of care that was provided to patients before the pandemic. With the added efficiency and convenience of virtual patient care, we expect that telegenetics will continue and expand into other medical genetic conditions long after the pandemic.
This is a 2021 ARVO Annual Meeting abstract.