Spark Voices

Creating a path

Genetic Testing Guides the Way for Those Faced with Vision Loss

As Spark® Therapeutics marks more than 25,000 people screened for IRDs since June 2019, we look forward to the work and progress still to come.

We experience and understand much of the world around us through our eyes. For people beginning to lose their vision, these changes in sight impact their lives in profound ways and leave many in search of answers. While age-related eye diseases are the primary cause of vision impairment, a group of rare blinding conditions known as inherited retinal diseases (IRDs) can also compromise vision, whether it be at birth or gradually over time.

IRDs have been linked to over 325 different gene mutations, in which an unintended change in a gene’s DNA sequence can cause a vision-related protein to not work properly or to be missing completely. For people living with an IRD, diagnosing the underlying genetic cause of their condition can be empowering not only for them, but also for their families and future generations to come. The ongoing growth in the genetics field has expanded our diagnostic capabilities significantly.

Spark Therapeutics has been working to make the critical step of genetic testing more accessible to those living with an IRD, as it is the only potentially definite way to verify the root cause of a disorder. By providing a definitive diagnosis, genetic testing has the potential to end uncertainty, guide disease management, build community, and encourage research that can benefit future generations. However, despite its benefits, genetic testing has been historically underutilized. Barriers, including perceived high costs, long turnaround times, a lack of understanding regarding the significance of findings, and difficulties interpreting the results, have traditionally hampered widespread adoption. That’s why we are committed to not only improving access to genetic testing, but also increasing uptake through enhanced education and awareness of all parties involved.

Through the ID YOUR IRD® initiative, Spark has worked to address these barriers and help more than 25,000 people suspected of having an IRD receive genetic testing. In partnership with a leading medical genetics laboratory, the ID YOUR IRD® program offers genetic testing at no charge to patients suspected by their healthcare providers of having an IRD.* Spark Therapeutics is proud to sponsor the ongoing initiative, helping to expand access to genetic testing for the IRD community as well as provide genetic counseling for those tested.

This important milestone encompasses the stories of so many people who have been empowered with more information about their condition because of their genetic diagnosis. Along the way, countless healthcare providers, laboratory personnel and genetic counselors have leveraged the insights provided by genetic testing to ultimately challenge the inevitability of IRDs.

Moving forward, Spark Therapeutics remains committed to making genetic testing accessible to everyone who is or may be living with an IRD. To further broaden testing access for the IRD community, we recently partnered with Blueprint Genetics in support of the Foundation Fighting Blindness, as a sponsor of the My Retina Tracker® Genetic Testing Program. In addition to offering no-cost genetic diagnostics and counseling,* the program also provides people with the opportunity to join the My Retina Tracker Registry, which allows individuals to contribute to research and development.

As we continue to research potential treatments for IRDs and other disease states, it is increasingly important for people living with these rare conditions to better understand the underlying genetic causes. These insights can help people, as well as their families and doctors, make informed decisions about their care and determine whether clinical research might be available. It’s essential that we lay a foundation of genetic testing to ensure that Spark Therapeutics, as well as others, can continue to pursue and progress the next generation of science and research.

At Spark Therapeutics, we’re hopeful that screening more than 25,000 people will be one genetic testing milestone of many to come along our path towards a world where no life is limited by genetic disease.

*Subject to terms and conditions of program.

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