GeneDx to Expand Access to Exome Testing for Pediatric Epilepsy Patients with New Partners
December 05 2024 - 7:30AM
Business Wire
GeneDx (Nasdaq: WGS), a leader in delivering improved health
outcomes through genomic insights, today announced Biogen (Nasdaq:
BIIB), Praxis Precision Medicines (Nasdaq: PRAX) and Stoke
Therapeutics (Nasdaq: STOK) as the founding partners to its Patient
Access Program for pediatric epilepsy, which provides access to
whole exome sequencing.
Currently, access to a definitive genetic diagnosis in pediatric
epilepsy remains limited, as evidenced by the 5–8-year diagnostic
odyssey that many children face.1 While patients may receive
targeted multi-gene panel testing, there are more than 700
different genes related to seizures, and less than 50% of those
genes are included on most commercially available gene panels.2
This program increases access to exome testing, increasing the
chance of receiving a definitive diagnosis. Nearly 25% of patients
with seizures received a genetic diagnosis through exome testing,
compared to a previously reported 19% diagnostic yield for epilepsy
gene panels.3
The Patient Access Program helps to ensure more equitable care
across pediatric epilepsy populations. Exome testing is recommended
as a first-line test for patients with unexplained epilepsy by the
National Society of Genetic Counselors and these guidelines are
endorsed by the American Epilepsy Society.4 In addition, research
shows that for those with a genetic diagnosis, the knowledge has
implications for treatment and management in up to 80% of people.5
However, despite the overwhelming clinical support and guidelines
for testing, access to testing is sparse, racial disparities exist
due to lack of access, and the journey to obtain a genetic
diagnosis for rare disorders, including epilepsy, can take years.
The Patient Access Program aims to address these challenges by
increasing access to whole exome sequencing for pediatric epilepsy
patients.
In addition to helping patients receive a genetic diagnosis, the
insights generated from testing will contribute to GeneDx’s
industry leading rare disease data set. GeneDx has robust
de-identified data from more than 700,000 exome and genome results
that can help researchers better understand gene-disease
relationships for patients with seizures.
“While epilepsy is a fairly common condition, affecting nearly a
half a million children under age 18 in the US, its genetic origins
are still insufficiently understood. Through increased access to
exome testing more patients may not only get potential answers for
their symptoms, but it may also allow the possibility of
personalized treatments and therapies in the future,” said Melanie
Duquette, Chief Growth Officer of GeneDx. “GeneDx has the unique
ability to deliver answers to patients to improve their health,
simultaneously unlocking insights for biopharma companies who are
investing to develop potential therapies to treat
similarly-situated patients, all while adding a deeper
understanding of gene-disease relationships to our already robust
database.”
“At Praxis, we are proud to lead with the largest
epilepsy-focused portfolio in the industry, which includes
groundbreaking therapies like relutrigine,” said Steven Petrou,
Chief Scientific Officer and co-founder of Praxis Precision
Medicines. “The success of the EMBOLD study and the ongoing work in
our EMBRAVE study underscore the transformative potential of our
Cerebrum and Solidus platforms to accelerate drug discovery and
development for patients with severe epilepsy. By combining these
advances with the GeneDx Patient Access Program, we are not only
refining the understanding of epilepsy’s genetic underpinnings but
also enhancing trial recruitment and speeding the delivery of
innovative treatments to patients who need them most. It’s an
exciting time as we push the boundaries of what’s possible for
these families.”
“A proper genetic diagnosis is a critical first step in getting
patients with epilepsy the care and treatment they need,” said
Barry Ticho, M.D., Ph.D., Chief Medical Officer of Stoke
Therapeutics. “As our understanding of the genetic causes of
epilepsy continues to increase, we are unlocking the potential for
new genetically targeted treatments that address the underlying
cause of the disease rather than only the symptoms. We are pleased
to be partnering with GeneDx to provide greater equity in the
availability of testing and to work together toward a common goal
of improving outcomes for patients.”
To be eligible for the Patient Access Program, epilepsy patients
and their providers must meet certain criteria, including the
following:
- Patient must be less than 18 years of age and reside in the
United States
- Patient must have experienced their first unprovoked seizure
under 8 years of age
- Patient must not have had prior genetic testing performed by a
clinical laboratory that confirmed a diagnosis of a
neurodevelopmental disorder (NDD)
- Ordering provider must be authorized under applicable law to
order genetic testing in the United States
To learn more, visit genedx.com/epilepsy.
About GeneDx:
GeneDx (Nasdaq: WGS) delivers personalized and actionable health
insights to inform diagnosis, direct treatment, and improve drug
discovery. The company is uniquely positioned to accelerate the use
of genomic and large-scale clinical information to enable precision
medicine as the standard of care. GeneDx is at the forefront of
transforming healthcare through its industry-leading exome and
genome testing and interpretation services, fueled by one of the
world’s largest, rare disease data sets. For more information,
please visit www.genedx.com and connect with us on LinkedIn,
Facebook, and Instagram.
References
1.
Marwaha S, Knowles JW, and Ashley EA. A guide for the diagnosis
of rare and undiagnosed disease: beyond the exome. Genome Med. 2022
Feb 28;14(1):23. doi: 10.1186/s13073-022-01026-w.
2.
Butler L, et al. Exome-based testing for patients with seizures:
Advantages over panel-based testing. Poster presented at American
Epilepsy Society Annual Meeting; December 2, 2023; Orlando, FL.
3.
Smith L, Malinowski J, Ceuleman S, et al. Genetic testing and
counseling for the unexplained epilepsies: An evidence-based
practice guideline of the National Society of Genetic Counselors. J
Genet Couns. 2023 Apr;32(2):266-280. doi: 10.1002/jgc4.1646.
4.
Sheidley BR, Malinowski J, Bergner AL, et al. Genetic testing for
the epilepsies: A systematic review. Epilepsia. 2022
Feb;63(2):375-387. doi: 10.1111/epi.17141.
5.
Marwaha S, Knowles JW, and Ashley EA. A guide for the diagnosis
of rare and undiagnosed disease. Genome Med. 2022 Feb 28;14(1):23.
doi: 10.1186/s13073-022-01026-w.
View source
version on businesswire.com: https://www.businesswire.com/news/home/20241205052102/en/
Press@genedx.com Investors@genedx.com
GeneDx (NASDAQ:WGS)
Historical Stock Chart
From Nov 2024 to Dec 2024
GeneDx (NASDAQ:WGS)
Historical Stock Chart
From Dec 2023 to Dec 2024