The Center for Personalized Genetic Healthcare (CPGH) provides genetic counseling and testing to individuals with a personal and/or family history of ophthalmic disease. CPGH's genetic experts will work with your primary care provider and/or eye doctor to assess your potential risks for a genetic eye disease. This information will be incorporated into the overall care you receive at Cleveland Clinic.
Some eye conditions are caused by an inherited gene mutation, or are hereditary. Identifying a hereditary cause for an individual’s eye disease allows individuals and families to personalize their vision screening guidelines, medical management and treatment options, and access to research and clinical trials. Examples of common genetic eye conditions include: retinitis pigmentosa, Stargardt disease, optic atrophy, Leber congenital amaurosis, retinoschisis and Usher syndrome.
Scheduling an Appointment
Prior to requesting an appointment, you will need to obtain a referral from your physician. If you are a patient outside Cleveland Clinic's health system, please have your physician complete a referral form and fax to 216.445.6935. To learn more about how to prepare for your appointment, review the "What to Expect" tab.
The Center for Personalized Genetic Healthcare (CPGH) is committed to providing comprehensive clinical genetic services, education and support to patients and family members. Our team of genetic experts will work with other Cleveland Clinic primary care providers and specialists to personalize your care by incorporating your genetic information into your overall healthcare plan.
- Meghan DeBenedictis, MS, CGC, MEd
What to Expect
Before Your Visit
Prior to requesting an appointment, you will need to obtain a physician referral. If you are a patient outside the Cleveland Clinic health system, please have your physician complete a physician referral form and fax to 216.445.6935.
Collect Your Medical Records
If you are a patient outside the Cleveland Clinic health system, you should send an authorization for the release of medical records form to each external facility. You may arrange to have medical records faxed (30 pages or less) to our department at 216.445.6935 or sent via postal mail.
Center for Personalized Genetic Healthcare
Attn: Ophthalmic Genetics
9500 Euclid Ave. R4
Cleveland, OH 44195
Collect Your Family Health History
To make the most of your visit, you should gather family health history information prior to your appointment. It may be helpful for you to talk with your relatives about eye conditions and other major medical problems running in your family. Specifically, you will want to discuss the following:
- Who in the family has been diagnosed with an eye condition, and how are they related to you?
- What type of eye condition did each affected relative have (e.g., glaucoma, cataract, retinal dystrophy l)?
- At what age was each individual diagnosed with the eye condition?
- If a precise age is not known, it can be helpful to determine the approximate decade in which they were diagnosed (e.g., diagnosed in their 40s or 70s.)
- At what age did relatives pass away? What was the cause?
- Has anyone in the family had genetic testing?
At Your Visit
We will provide personalized expert genetic counseling and education to you and your family. During your visit, you will see a genetic counselor with expertise in the field of ophthalmic genetics for a genetics evaluation. You may also be scheduled with other Cleveland Clinic providers during your visit depending on your medical needs and physician availability.
Our comprehensive method for genetic counseling involves:
- Diagnosis of a genetic condition through review of family and medical history, examination by a genetics expert, and if appropriate, genetic testing
- Education about your specific diagnosis and any associated health risks, if known
- Suggestions for future medical care to optimize your health
- Discussion of health risks to family members
- Recommendations regarding genetic testing for at-risk family members and coordination of testing, if desired
If genetic testing is indicated, blood can usually be drawn on the same day following your appointment.
Following Your Visit
After your visit, it may take anywhere from a few days up to two weeks for your clinical appointment notes to reach the healthcare providers that you requested to receive a copy. We are also glad to communicate with your healthcare providers about your case as needed. You are always welcome to follow up with us with questions regarding your visit.
Cost & Insurance
Genetic counseling and testing are billed as two separate services.
Genetic Counseling Services
Many insurance companies will cover 96040, which is the CPT code for genetic counseling. However, we do ask that you check with your insurance company to verify that your plan does cover the cost. If your plan does not cover 96040, please contact us at 216.636.1768 and we can discuss the proper payment arrangements with you.
If genetic testing is indicated, your genetic counselor will discuss costs and insurance coverage during your appointment.
To learn more about billing options and financial assistance, review our billing and insurance information.