What is the My Retina Tracker® Genetic Testing Program? A Guide for Patients
The My Retina Tracker Genetic Testing Program offers individuals with a clinical diagnosis of an Inherited Retinal Disease (IRD) access to high-quality diagnostic testing, genetic counseling, and connection to a growing IRD registry at no cost to the patient. Targeted familial variant testing is also available to blood relatives of individuals who receive a positive result through the Program. The program is a partnership among PreventionGenetics, InformedDNA, Foundation Fighting Blindness and other program sponsors. The genetic testing is performed at PreventionGenetics and the third-party genetic counseling services are provided by InformedDNA. A genetic diagnosis can provide many benefits to people with inherited retinal diseases including, clarification of a clinical diagnosis, determination of the disease inheritance pattern within the family, and identification of clinical trials and therapies that may be appropriate for the patient.
This guide is for helping patients and families understand the ordering and testing process for the My Retina Tracker Genetic Testing Program.
Talk to your eye health care provider about genetic testing and whether the My Retina Tracker Genetic Testing Program is right for you. All eye care specialists in the U.S. can apply to become an ordering provider in the My Retina Tracker Genetic Testing Program. The doctors need to be able to clinically diagnose you (the patient) with an inherited retinal disease. The Program is only available to residents and doctors in the U.S. Please keep in mind that some doctors may be familiar with the My Retina Tracker Genetic Testing Program, while others may not be familiar with the Program or genetic testing more broadly. You (the patient or family member) may need to help educate the doctor and/or the clinic staff about the Program. Some doctors may not wish to participate in the Program, and they are not obligated to.
If you are eligible and interested in participating, your doctor will help you get started on the following steps:
- Review the program flyer and patient FAQ. If your doctor believes that you are eligible for the program, he or she will complete a webform with some general information, including your email address. Upon submission of the form, you will receive an email from the Foundation Fighting Blindness via DocuSign that includes links to a program flyer and patient FAQ and a button for accessing the Program paperwork. Please review the program flyer and patient FAQ to determine your interest in Program participation.
- Click on the DocuSign button to access the Program paperwork. If you are interested in enrolling in the program, you can access the My Retina Tracker Registry and My Retina Tracker Genetic Testing Program informed consent documents, a HIPAA release form, and InformedDNA’s Consent for Services by clicking on the DocuSign button in the email. Please direct any questions you may have regarding the Program and participation to the Foundation Fighting Blindness at coordinator@myretinatracker.org. After submitting these forms, your doctor will receive an email, so he or she can order the genetic test.
- Submit a sample for genetic testing. Based on your doctor’s preference, a blood or saliva sample will be collected for testing. Your doctor may collect a blood or saliva sample in the office or request that a saliva collection kit be sent to your home address. In the latter case, you will collect the sample at home and return it to the lab in a self-addressed, paid envelope.
- Meet with your doctor or a genetic counselor. When your results are ready, you will meet with your doctor and/or a genetic counselor to receive your results and learn more about the implications they may have for you and your family.
Eligible Inherited Retinal Disease Diagnoses
- Achromatopsia
- Adult foveomacular vitelliform dystrophy
- Alstrom disease
- Bardet-Biedl syndrome (Laurence-Moon syndrome)
- Best disease
- Bietti crystalline corneoretinal dystrophy
- Choroidal dystrophy
- Choroideremia
- Cone dystrophy
- Cone monochromacy
- Cone-rod dystrophy
- Congenital stationary night blindness
- Fundus albipunctatus
- Fundus flavimaculatis
- Goldman-Favre vitreoretinal dystrophy (enhanced s-cone syndrome)
- Gyrate atrophy
- Jalili syndrome
- Fate-onset retinal degeneration (L-ORD)
- Leber congenital amaurosis
- Macular dystrophy – juvenile inherited only
- Pattern dystrophy
- Refsum syndrome
- Retinitis pigmentosa
- Retinitis pigmentosa atypical
- retinitis punctata albescens
- Retinoschisis – juvenile
- Rod dystrophy
- Rod monochromacy
- Stargardt disease
- Usher syndrome unspecified
- Usher syndrome – type I
- Usher syndrome – type II
- Usher syndrome – type III
Program Resources for Clinicians
My Retina Tracker Genetic Testing Program Follow-Up – June 25, 2024
Program Resources for Patients
Support the My Retina Tracker® Genetic Testing Program with a donation.
If you would like to support the My Retina Tracker® Genetic Testing Program to give a gift of free genetic testing and counseling, please click on one of the donation buttons below. Please note that contributions have no effect on the eligibility nor approval of any one person. Contributions cannot be directed to support an individual or family in the genetic testing study.
My Retina Tracker® Genetic Testing Program Partners
- InformedDNA
- PreventionGenetics
- Anschutz Foundation
- Delta Gamma Foundation
- Mary Gourlay Charitable Trust
- George Gund Foundation
- Hagedorn Fund
- Gordon Hartman Family Foundation
- Inez Duff Bishop Charitable Trust
- William G. and Helen C. Hoffman Foundation
- Hope in Focus
- Rhode Island Foundation
- Beacon Therapeutics (fka AGTC)
- Johnson & Johnson
