At Spark, we are continually talking to patients and their families to understand the needs of the IRD community. You told us you wanted help with genetic testing, and here’s one way we responded to that ask. (Note: The community story details a program created by Spark that is not offered at this time.)
As leaders in the field of gene therapy research, all of us here at Spark Therapeutics have been deeply engaged with families who are living with inherited retinal diseases (IRDs). Seeking to understand your journey with inherited vision loss, we deeply value your willingness to share your experiences with us. In fact, your stories moved us to launch aSharedVision.com, a website devoted to providing information about the IRD community and underscoring the importance of genetic testing.
Since launching aSharedVision, we have repeatedly heard from you and your health care providers about frustrating barriers that frequently exist for families who are trying to uncover the genetic mutations responsible for vision loss. In an effort to eliminate some of those barriers, Spark Therapeutics worked in consultation with patient advocates, physicians and other health care providers; and we began to create a lofty plan. Many months later, that plan is now a reality.
Genetic testing is a process that may identify changes or mutations in a person's genes and can help explain how and why a disease affects a person. For those with an IRD, it may identify the cause of vision impairment, and is the only way to know exactly which genetic mutation they have. Uncovering this information can help someone better address health issues that may be related to the mutation. It can also help people with an IRD, and their family members, find clinical trial opportunities and gain access to supportive educational and support services. Equally important, having this information can also help someone connect with others living with the same type of vision impairment.
Through the ID Your IRD* gene testing initiative, Spark Therapeutics aspired to help people living with certain IRDs, by providing access to free genetic testing for eligible people, subject to the terms and conditions of the initiative. While it was not able to provide genetic information to everyone with an IRD, the initiative aimed to inform as many people as possible.
*The ID Your IRD gene testing initiative is no longer offered at this time.