Applied Genetics

Applied Genetics at Columbia Ophthalmology is an innovative program that uses an interdisciplinary approach to evaluate ophthalmic disorders of genetic origin. Our approach is highly personalized, and multiple specialists offer a variety of tests and review each case to determine the most appropriate plan for care. Many of our physicians are involved in research and this enables us to recommend patients for clinical trials and research studies within the Columbia University Irving Medical Center and nationally and internationally. Our goal is to be a resource for patients and for physicians who do not have expertise in genetics but want their patients to be evaluated on a genetic basis.

Applied Genetics at Columbia Ophthalmology is unique because our personalized approach means that multiple specialists review each patient’s case to determine the most appropriate plan for care. Once we identify the genetic cause of a patient’s condition, that information becomes part of our database which we often search as new research studies, and clinical trials begin recruiting. Our telemedicine options for genetic counseling and remote sample collection options for genetic testing make this a unique service. Still, these options are only offered to patients in certain areas because of licensure laws. Additionally, we provide genetic counseling and genetic testing for family members of affected patients and partners of affected patients for family planning purposes.

Applied Genetics was launched in September 2019. Since then, we have completed over 875 genetic counseling appointments and have collected over 425 samples for clinical genetic testing. Additionally, over 300 patients have completed the entire Applied Genetics workflow, which means they have completed pre- and post-test counseling and have received genetic testing results. We have identified patients with variants in over 300 genes.

We are different from other applied genetics programs because we offer services for not just the retina, but we cover glaucoma, neuro-ophthalmology, cornea, and ocular oncology.

Genetic counseling is a critical piece of our service. Our electroretinogram (ERG) service is a test that records the retina's electrical activity is only open to Applied Genetics patients. Columbia’s Dr. Tsang, a world-renowned expert in retinal diagnoses of genetic origin, runs this service.