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What is the Open Access Genetic Testing Program?
Since 2017, the Foundation Fighting Blindness has been providing members of the My Retina Tracker Registry an opportunity to receive no-cost genetic testing and genetic counseling, through an IRB approved Genetic Testing Study. To date, over 6,500 people have been able to participate.
This genetic testing option was limited to retinal healthcare providers who had been approved for the study and it required patients to be members of My Retina Tracker Registry to qualify for testing.
On October 21, 2019 the Foundation Fighting Blindness, in partnership with Blueprint Genetics and InformedDNA®, launched an open access, no-cost genetic testing program called the Open Access Genetic Testing Program. The Program provides genetic testing and genetic counseling services that may be used by any retinal healthcare provider capable of diagnosing an inherited retinal disease.
This program is for individuals living in the United States, with a clinical diagnosis of an inherited retinal degeneration (IRD). The eligibility criteria are listed below in ”Who is Eligible for Testing.”
The Program offers people with an IRD access to the highest quality genetic testing and genetic counseling. Although it is not required for participation, this program offers an easy opportunity to join the My Retina Tracker Registry. This gives individuals the opportunity to contribute to research, development and the opportunity of being contacted about relevant clinical trials.
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 Open Access Genetic Testing Program. The webinar includes a a review of all program features and the online ordering process.
Who is eligible for testing?
The person is clinically diagnosed with one of the inherited retinal degenerative diseases listed below in Eligible Diagnoses.
The person lives in the USA.
The person has not had any of the following types of genetic testing since 2016:
1) A test that examined more than 32 IRD-related genes
2) A whole exome genetic test
3) A whole genome genetic test
The person does not solely have any of the following diagnoses:
1) Age-related macular degeneration
3) Optic neuropathy
4) Cornea/anterior chamber disease
5) Diabetic eye disease
6) Non-genetic ocular or retinal damage diagnosis not listed in the requisition.
Please note, this test is not suitable for, and should not be used to, screen for eye diseases in general, it is only for use in identifying the causative gene for a confirmed clinical diagnosis of an IRD.
Inherited retinal degenerative diseases: Eligible 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
How to Participate in the My Retina Tracker Program
A person with an IRD should speak to their retinal healthcare provider (ophthalmologist, retinal specialist, optometrist) to ask if they qualify for the test, and if so, ask their provider to order the My Retina Tracker Panel from Blueprint Genetics.
Is the Program Free?
There is no out of pocket cost for the genetic test or the associated genetic counseling. The costs of the test and counseling, which are well over $2,000 carry no cost to the participant. There is no charge to your health insurance company.
However, participants will need to cover any cost of a clinical consultation and related exams that an enrolling physician may decide are necessary before they can order the test.
Support the My Retina Tracker Program
If you would like to support the My Retina Tracker 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.