PPMD is pleased to announce the 1,000th patient application to our Decode Duchenne program. Decode Duchenne is a nationwide program to assist individuals with Duchenne muscular dystrophy in accessing genetic testing, interpretation, and counseling. The program was founded in partnership with Sarepta Therapeutics in 2013 and has continued to expand with continued support from Sarepta Therapeutics and the help of PTC Therapeutics.
Decode Duchenne provides genetic testing, interpretation, and counseling at no cost to eligible patients who are unable to access testing due to barriers such as a lack of insurance or insufficient insurance coverage. For people with Duchenne, genetic testing is used to identify the genetic mutation and confirm the diagnosis. In addition, genetic testing can be used not only to determine a person’s eligibility for certain clinical trials, but also their compatibility for potential therapies currently available or on the horizon. Despite the benefits of testing, in some cases patients are unable to access genetic testing through their insurance provider.
Until 2018, the Decode Duchenne program was only available to those with a confirmed or suspected diagnosis of Duchenne or Becker muscular dystrophy. A new addition to the program in 2018 is carrier testing for at-risk females who have a relative affected with Duchenne. Women often have trouble accessing carrier testing, which is critical for accurate family planning. Including carrier testing in the Decode Duchenne program enables PPMD to provide genetic testing, interpretation, and counseling for the entire family affected by Duchenne. Applicants typically must also have financial barriers to receiving genetic testing and be citizens or legal residents of the United States or Canada.
PPMD’s Founding President and CEO, Pat Furlong, is moved by this milestone for Decode Duchenne: “This is a meaningful moment for this important community program. To have reached 1,000 patients speaks to the incredible need of free genetic testing and counseling in our community, as well as the talent and compassion of the Decode Duchenne team. Since the initial start-up phase of Decode Duchenne in 2013, we have been able to identify people with Duchenne within populations that traditionally have not had access to genetic testing, interpretation, and counseling because of costs associated with the process. With the initial and ongoing support of Sarepta Therapeutics, and the partnership of PTC Therapeutics in 2015, we have seen incredible growth in the program.”
The program is administered by PPMD’s board-certified genetic counselors Jennifer Ely and Ann Martin. Ms. Martin, director of The Duchenne Registry believes that the Decode Duchenne program is more important than ever: “More potential therapies are emerging every day for Duchenne and many of these are based on your individual genetic change. Knowing your genetic mutation gives you the knowledge to move forward as new therapies emerge and possibly find one that is right for you. The steady increase in applications and call volume highlight the importance of the program in our community. The Decode Duchenne team and sponsors will continue to find ways to expand our mission to improve diagnostic efficiency and accuracy at all ages and stages.”
Learn more about Decode Duchenne
To learn more about Decode Duchenne, including how you or a loved one can participate, please visit parentprojectmd.org/decode.