Feb 7, 2020

Genetic Testing for Inherited Retinal Diseases through the Foundation’s Open Access Program

Science Education

The benefits of genetic testing for IRD patients, how to participate in the Foundation’s Open Access program, and what to expect from the genetic testing process.

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The Foundation Fighting Blindness, in partnership with Blueprint Genetics and InformedDNA, offers no-cost genetic testing and counseling to people affected by the entire spectrum of inherited retinal diseases (IRDs) including retinitis pigmentosa (RP), Usher syndrome, and Stargardt disease. The test is available to those clinically diagnosed with an IRD living in the US or US territories (Puerto Rico, the commonwealth of the Northern Mariana Islands, Guam, American Samoa, and the US Virgin Islands: St. Thomas, St. Croix, St. John).

Why genetic testing for IRDs?

Eye care professionals make a clinical diagnosis of an IRD by examining a patient’s retinas. While a clinical examination provides critical information about the retinal condition, Identifying the IRD-causing gene mutations through genetic testing can provide more diagnostic information. In fact, studies have shown that clinical diagnoses change in about 15 percent of cases after genetic testing.

Identifying the disease-causing gene mutation(s) not only can provide more detail of a diagnosis, it can help a patient better understand the risk for other family members (siblings, children, etc.) for inheriting the IRD. Also, knowing one’s IRD gene mutation(s) can help them qualify for a clinical trial for an emerging therapy, many of which are now gene- or mutation-specific.

Why the Blueprint Genetics testing panel?

The Blueprint panel provides high-quality, broad, and deep testing for IRD genes. The panel screens 285 genes and includes the gene RPGR, a relatively common IRD gene, which when mutated causes X-linked RP. (Other panels may not test for the complete RPGR gene) The Blueprint panel also can identify hard-to-find mutations (i.e., intronic and copy-number variants), which other panels may not screen for.

Furthermore, Blueprint Genetics and its partners, the Foundation Fighting Blindness and InformedDNA, will never release a person’s personal information. A person’s privacy is always protected. With other IRD genetic tests, the patient’s personal information may be released.

The test ordering process

Tests can only be ordered by a clinician.  The testing company, Blueprint Genetics, cannot take test orders directly from patients.

Any doctor in the US who is able to clinically diagnose a patient with an IRD can order the test online from Blueprint Genetics through the company’s Nucleus portal, which is available at www.BlueprintGenetics.com.

Patients with IRDs should contact their doctor and ask him or her to order the test. Doctors need to select the My Retina Tracker Program Panel to order the genetic test. Patients who have questions about testing or the program should contact their doctor. The test itself is simple; the clinician only needs to collect a saliva or blood sample from the patient. Patients should not contact Blueprint Genetics.

What to expect

Once a saliva sample is submitted to Blueprint Genetics, the test results are sent to the doctor in about four weeks. The results are conclusive in about 60-65 percent of cases. Whether the results are conclusive or not, the genetic counselor will help the patient understand what the results mean and potential next steps for the patient and family. Keep in mind that many emerging IRD therapies are designed to work independent of the mutated gene. So, while knowing one’s IRD gene is helpful in disease management, there are emerging treatment options for those who haven’t had their gene identified.

Why genetic counseling?

A genetic counselor helps patients and families understand what the genetic test results mean, what research (including clinical trials) may be relevant, the IRD inheritance pattern, and potential next steps. InformedDNA has extensive knowledge and experience in the IRD space and provides comprehensive, telephone-based genetic counseling to patients and families. The counseling session is typically 60-75 minutes.

The My Retina Tracker Registry

Any patient with an IRD can register in the Foundation’s global, secure My Retina Tracker Registry (www.MyRetinaTracker.org) to share their disease information with researchers and companies, many of which are recruiting for clinical trials for emerging therapies. Only de-identified information is shared. Personal information is never shared. A patient’s privacy is always protected. (The Foundation notifies the patient if he or she matches the researcher’s or company’s search criteria and then it is up to the patient to contact the researcher or company.) While a person’s genetic profile is valuable information to include in their registry record, they do not have to know their IRD gene mutation(s) to register. 

Additional resources

Why genetic testing is important

Open Access Genetic Testing Program

My Retina Tracker Registry

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