Blueprint Genetics, the Foundation Fighting Blindness, and InformedDNA welcome Spark Therapeutics as a new collaborator to the My Retina Tracker® Genetic Testing Program to broaden access for individuals living with an inherited retinal degeneration (IRD). The program offers no-cost, high-quality genetic diagnostics and genetic counseling to individuals in the United States with a clinical diagnosis of an IRD.
Launched in 2019, the open access My Retina Tracker® Genetic Testing Program is one of the largest volume genetic testing initiatives for IRDs globally. Over 15,000 patients across the United States have been tested to date, a significant portion of which have joined the Foundation Fighting Blindness My Retina Tracker® Registry, designed to help accelerate research, the discovery of treatments, and access to clinical trials for rare IRDs.
“It has been incredibly rewarding to witness the growth and development of the My Retina Tracker Program in the last few years. Collaboration with manufacturers who support the IRD community, such as Spark Therapeutics, is and has been an important foundation to this program. It is very satisfying for us to be part of this, enable access to genetic diagnostics and counseling to thousands of IRD patients, and with that, accelerating better management of and research in IRDs,” said Blueprint Genetics Executive Medical Director, Dr Tero-Pekka Alastalo.
Individuals participating in the program are offered access to genetic testing performed by Blueprint Genetics. The 322-gene panel offers excellent coverage of known mutations causing IRDs, noncoding variants, copy number variants and mitochondrial genome analysis. When requested by the ordering physician, no-cost, post-test genetic counseling is provided by expert genetic counselors from InformedDNA.
“For those living with an IRD, a genetic testing diagnosis offers a chance to lessen uncertainty, pave the way for a better disease management plan, and encourage research and community outreach,” said Jay Newman, General Manager and Head of US Commercial at Spark Therapeutics. “At Spark, our vision is to live in a world where no life is limited by genetic disease, and our partnership with Blueprint Genetics in support of Foundation Fighting Blindness to offer the My Retina Tracker Genetic Testing Program will complement Spark’s support of existing genetic testing programs by expanding access to this important diagnostic tool for people living with IRDs.”
“The expansion of this program is key in making genetic testing more widely accessible and may address health inequities. Removing the barrier of the cost to patients gives those individuals with vision loss from an IRD more opportunities to receive a timely molecular diagnosis for their condition,” said Todd Durham, PhD, Vice President, Clinical & Outcomes Research at Foundation Fighting Blindness. “This program also offers the opportunity to enroll in the My Retina Tracker Registry. Contributing to research and staying informed is a concrete step one can take after learning more about their IRD. As a result of support from Blueprint Genetics, Spark and other collaborators and donors, the Foundation is able to provide genetic testing to more affected individuals.”
The My Retina Tracker® Genetic Testing Program:
- Offers open access, no-cost genetic testing, and genetic counseling for individuals with a clinical diagnosis of an inherited retinal disease
- Is available for individuals living in the United States
- Provides access to high-quality genetic testing with excellent coverage in clinically relevant difficult-to-sequence regions such as RPGR [ORF15]
- When requested by the ordering clinician, the Program includes genetic counseling through InformedDNA by certified genetic counselors with inherited retinal disease expertise
- Offers an easy opportunity to join the Foundation Fighting Blindness My Retina Tracker® Registry, which gives individuals the opportunity to share their deidentified information, and contribute to focus groups, patient journey analyses, research studies, and, when available, invitations to apply for enrollment in relevant natural history studies and clinical trials
- This program is no-cost to the patient, and is being sponsored by the Foundation Fighting Blindness
About Blueprint Genetics
Blueprint Genetics, a Quest Diagnostics company, is a leading specialty genetics and bioinformatics company focused on providing genetic testing for inherited diseases. The company is based in Helsinki and Seattle, with a customer base spanning over 70 countries. www.blueprintgenetics.com
About Spark Therapeutics
At Spark Therapeutics, a fully integrated, commercial company committed to challenging the inevitability of genetic disease by discovering, developing, and delivering potential treatments in ways unimaginable. At Spark, a member of the Roche Group, we see the path to a world where no life is limited by genetic disease. For more information, visit www.sparktx.com, and follow us on Twitter and LinkedIn.
About the Foundation Fighting Blindness
Established in 1971, the Foundation Fighting Blindness is the world’s leading private funding source for retinal degenerative disease research. The Foundation has raised more than $816 million towards its mission of accelerating research for preventing, treating, and curing blindness caused by the entire spectrum of blinding retinal diseases including: retinitis pigmentosa, macular degeneration and Usher syndrome. Visit www.FightingBlindness.org for more information.
InformedDNA is the authority on the appropriate use of genetic testing. It leverages the expertise of the largest full-time staff of lab-independent, board-certified genetics specialists in the US to help ensure health plans, hospitals, employers, clinicians, and patients all have access to the highest quality genetic services. Key offerings include clinical genetic counseling, genetic testing utilization management, genetic testing payment integrity, and clinical trial support. www.InformedDNA.com
Foundation Fighting Blindness
Chris Adams, VP Marketing & Communications, 1.410.423.0585, firstname.lastname@example.org