| 25 October 2018

Eye Want To Know: A New Resource for American Patients living with IRDs

Approximately 90 percent of people living with one type of IRD, retinitis pigmentosa (RP), expressed desire for genetic testing

Spark Therapeutics today announced the launch of Eye Want 2 Know, a digital resource dedicated to raising awareness of the need for genetic testing for people living with an inherited retinal disease (IRD) in the united states. Spark Therapeutics will formally unveil Eye Want 2 Know this weekend at the American Academy of Ophthalmology (AAO) 2018 Annual Meeting.

“A confirmed genetic diagnosis opens the door to better, more specific resources for people living with inherited retinal diseases,” said Stephen Rose, Ph.D., chief scientific officer of Foundation Fighting Blindness.

“Eye Want 2 Know aims to ensure the IRD community is aware of and appreciates the urgency for genetic testing, which remains a critical barrier to the widespread adoption of genetic testing within this community.”

Spark Therapeutics developed Eye Want 2 Know with input from advocates, families affected by IRDs and health care professionals. Eye Want 2 Know provides information on overcoming the barriers to genetic testing. These barriers include misinformation about the benefits and burdens of testing and the perceived challenge to find providers for genetic testing. Among the initiative’s resources is a searchable “Find a Provider” tool to connect interested patients to health care professionals across the country who can facilitate genetic testing.

“For people with a family history of IRDs, genetic testing can help you understand and prepare for your disease, even before you begin to show symptoms," said Mary Lou Johnson Evans, mother of a son living with retinitis pigmentosa (RP), an IRD. “This was essential for my son and me—to prepare for when he would lose his sight.”

Through genetic testing, those living with an IRD may obtain diagnostic clarity and pursue resources and community support specific to their IRD. Patients who obtain genetic testing results can also work with a health care professional to help decide how best to manage their specific disease and determine if they are candidates for investigational gene therapy clinical trials.

“Eye Want 2 Know supports the medical community’s quest for precise genetically based diagnoses and serves as a rallying point for genetic testing awareness, education and action,” said Paulo Falabella, M.D., medical affairs ophthalmic lead of Spark Therapeutics. “We strongly urge health care professionals to encourage and facilitate genetic testing for patients and their families with IRDs. We are committed to helping provide patients, caregivers and health care professionals access to the genetic information they need to make decisions with each patient’s future vision and health in mind.”

Learn more about the benefits of genetic testing for IRDs, locate a provider and connect with community members by declaring “Eye Want 2 Know” at www.eyewant2know.com  and by sharing on social media channels using the hashtag, #EyeWant2Know.

 

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