The SCN2A Foundation and Probably Genetic Partner to Make Genetic Testing more accessible
PITTSBURGH (PRWEB) August 03, 2023 -- The SCN2A Foundation, a registered 501(c)(3) non-profit focusing on accelerating targeted research and treatment of SCN2A related disorders, is announcing today their partnership with Probably Genetic to accelerate testing for those with potential SCN2A related disorders.
Diagnosing rare disease patients is complex. Patients often go years without a confirmed diagnosis because symptoms overlap with other diseases or they cannot access specialists that are willing to order genetic testing for them.
Probably Genetic is a group of geneticists, patients, and engineers whose mission is to help people with rare diseases access genetic testing. They work closely with patient advocacy organizations to build no-cost genetic testing programs, with the ultimate goal of ending the diagnostic odyssey. Probably Genetic has launched a program to offer free genetic testing to patients who experience pediatric-onset seizures or developmental delay. A confirmed diagnosis is imperative to understanding how diseases progress in time, design clinical trials, and eventually, develop effective treatments.
“By increasing the ability to test for rare disorders, there will be a better opportunity to diagnose and treat patients with rare diseases. Lukas and his team are doing amazing work and we’re happy to help in any way we can” said Jason Curry, Founder of The SCN2A Foundation.
Probably Genetic’s diagnostic approach eliminates the financial barrier that prevents many patients from obtaining genetic testing. Patients simply enter their symptoms via an online, patient-friendly symptom checker. Submissions are thoroughly evaluated by the Probably Genetic team to determine eligibility and identify which patients are the best candidates for a free test. Every test request is first reviewed by an independent telemedicine physician before an at-home sample collection kit is shipped. Once the lab receives the returned test sample by mail, patients receive the results of their genetic test, along with support from a genetic counselor.
“Probably Genetic strives for a patient-centric approach. Our tools ensure genetic testing is readily accessible to patients. This not only allows patients to receive testing sooner but also furthers the development of effective treatments for rare diseases” says Lukas Lange, the CEO of Probably Genetic.
With a myriad of seemingly random maladies, the diagnostic journey for rare disease patients is often long—requiring years of medical appointments in order to cross paths with the right physician and testing approach to make the diagnosis. Although genetic testing serves as the definitive diagnostic method for most pediatric-onset epilepsy, the cost is often so prohibitive to patients that they go without answers for years. The SCN2A Foundation is excited to partner with Probably Genetic to remove these barriers and increase access to genetic testing within the rare disease community.
About SCN2A
SCN2A is a gene that helps regulate the central nervous system. Malfunctions in this gene can cause complex and deadly symptoms relating to epilepsy that are difficult to treat with general anti epileptic medications, as well as broad symptoms across the autism spectrum. To further our epilepsy and autism treatment research, please also consider donating here.
About Probably Genetic
Probably Genetic helps find undiagnosed rare disease patients faster by providing severely ill patients with genetic tests at no cost. The company finds patients online and tests them for free via their telemedicine genetic testing service. Probably Genetic’s mission is to diagnose 200 million rare disease patients worldwide. Learn more at: https://www.probablygenetic.com/
About The SCN2A Foundation
Incorporated in 2023 - Our mission is to accelerate targeted research and treatment for the SCN2A through strategic, and cutting edge technologies, processes, and partnerships. For more information, visit https://www.scn2afoundation.org, or follow us on Twitter, Facebook, Instagram, or Linkedin.
Shannon Curry, Hammersmith Consulting, 1 7245440376, [email protected]
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