What is the My Retina Tracker® Genetic Testing Program? A Guide for Patients
The No-Cost My Retina Tracker® Genetic Testing Program is Sponsored by the Foundation Fighting Blindness and Blueprint Genetics
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 non-cost open access 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 MDs (ophthalmologists and retinal specialists) and most ODs (optometrists) in the U.S. can order the Foundation’s no-cost genetic test online from Blueprint Genetics (Nucleus portal). 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.
Keep in mind: While some doctors may be familiar with the sponsored genetic testing program or are participating in it, others may not be familiar with the program or genetic testing. 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.
Provide a DNA sample for the test.
Your doctor will usually ask you to come in for an appointment (and eye exam) to collect the DNA sample (obtained via saliva or blood). If you haven’t seen the doctor before, you will be considered a new patient and may need to undergo a complete exam.
Though the genetic test is provided at no cost to the patient or the doctor, the patient is responsible for all other costs (for exams, tests, etc.) for the appointment.
Make sure the doctor has a sample collection kit before you arrive for your appointment. The doctor can order the kit ahead of time.
The doctor can decide to have the DNA sample collection kit sent to your home. In this case, an office visit may not be necessary if you have had a recent exam with the doctor who is submitting your sample. Only saliva and buccal sample kits will be sent to homes.
Saliva, buccal (cheek), and blood sample kits will produce the same genetic testing results. However, there may be instances when a blood sample is required. For example, in some children or in anyone who has difficulty generating enough saliva to fill the saliva collection tube.
Make sure your doctor orders the My Retina Tracker Panel
Your doctor will order the test online from Blueprint Genetics using their Nucleus portal. They need to order The My Retina Tracker Panel from the options on the ordering screen. (Many doctors ordering the test for the first time order the wrong panel.)
If the doctor has questions, they should reach out directly to Blueprint. Patients and families should never contact Blueprint.
Make sure your doctor orders (or provides) genetic counseling.
When the doctor orders the genetic test through the Blueprint website, they will likely need to order InformedDNA genetic counseling for you during the process. That is, unless the doctor or their genetic counselor chooses to provide counseling. You should ask your doctor who will provide your genetic counseling if you are not sure.
Genetic counseling is required by the sponsored program and will help you understand the results and what they mean for you and your family. If the doctor or clinic doesn’t provide genetic counseling (which is usually the case), they need to order no-cost genetic counseling services for you from InformedDNA. InformedDNA, who are experts in the genetics of inherited retinal diseases, provides phone-based genetic counseling for the patient and family.
When InformedDNA receives the request for your results consultation conveyed by Blueprint’s test requisition process, they will notify you. InformedDNA’s genetic counselors will send a summary of the consultation review to your physician after genetic counseling is complete.
Test results are available to the ordering health care provider about four weeks after the DNA sample has been submitted.
When the genetic testing analysis report is complete, it will be available to the ordering health care provider via the lab’s ordering portal.
Your doctor or a genetic counselor they work with may give you the results.
If your doctor requested genetic counseling by InformedDNA, one of their representatives will contact you to set up a results consultation.
Your physician or genetic counselor can upload results to the My Retina Tracker Registry. Registry members can also upload genetic test results directly to their profile.
If you have additional questions about your condition, research, and/or clinical trials, you can contact the Foundation Fighting Blindness at info@FightingBlindness.org.
Register in the My Retina Tracker Registry (strongly recommended before you are tested).
The My Retina Tracker Registry (at MyRetinaTracker.org) is a free, secure, global database for patients affected by the inherited retinal diseases studied by the Foundation Fighting Blindness. By signing up in the Registry, your disease information can be shared with companies and researchers developing therapies and conducting clinical trials. Your personally identifying information is never shared.
As a registrant, you can be notified about clinical trials and other types of research studies. Also, the data generated by all Registry members can help researchers who are developing therapies better understand inherited retinal diseases.
You do not have to know your genetic profile or have undergone genetic testing to be in the Registry.
Eligible Inherited Retinal Disease Diagnoses
- adult foveomacular vitelliform dystrophy
- Alstrom disease
- Bardet-Biedl syndrome (Laurence-Moon syndrome)
- Best disease
- Bietti crystalline corneoretinal dystrophy
- choroidal dystrophy
- 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
- late-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 Patients and Clinicians
IRD Genetic Testing Webinar-Workshop
On June 4, 2020, the Foundation Fighting Blindness, with its partners Blueprint Genetics and InformedDNA, presented the following free genetic testing webinar-workshop for eye care professionals in the U.S. The presentation provides all professionals need to know to order no-cost genetic testing and counseling online through the no-cost open access My Retina Tracker® Genetic Testing Program. The webinar includes a a review of all program features and the online ordering process.
Support the My Retina Tracker® Genetic Testing Program with a donation.
If you would like to support the My Retina Tracker® Genetic Testing Program, 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.