GeneDx Presents New Data at the American Epilepsy Society Annual Meeting Demonstrating That Exome Sequencing Outperforms Multi-Gene Panels for Patients with Epilepsy
2023年12月1日 - 10:30PM
GeneDx (Nasdaq: WGS), a leader in delivering improved health
outcomes through genomic and clinical insights, today announced new
data to be presented at the American Epilepsy Society (AES) annual
meeting in Orlando, Florida, December 1-5, 2023, that supports the
use of exome sequencing as a first-tier test for patients with
epilepsy.
In a new study of 22,500 individuals with a
clinical history of seizures or suspected seizures, researchers at
GeneDx found that:
- Nearly 25% of this patient cohort received a genetic diagnosis
through exome sequencing. Previously published literature cites the
diagnostic rate of multi-gene panels for patients with epilepsy at
19%.1
- Notably, 78% of patients in this exome positive cohort had
prior genetic testing, suggesting that the previous tests did not
resolve all clinical questions.
- The gap in diagnosis between exome sequencing and the
multi-gene epilepsy panels can be largely attributed to the fact
that more than half (57%) of seizure-related genes are not included
on many commercially available epilepsy panels.
- Of those patients with a positive genetic diagnosis from exome
sequencing, 11% had a variant in a treatment related gene.
These data were collected between 2019 and 2022. In
2022, guidelines were published by the National Society of Genetic
Counseling (NSGC) and endorsed by AES, recommending exome as a
first-tier test for individuals with unexplained epilepsy.
GeneDx will also present data at the conference
that shows insurance may offer better coverage for exome sequencing
than multi-gene panels for patients with epilepsy. The review of
publicly available coverage policies from 12 national payers,
regional payers, state Medicaid programs, and laboratory benefit
managers, revealed that for outpatient individuals with epilepsy,
broader payer coverage exists for exome sequencing than for
multi-gene panels.
“The combination of these studies paints a striking
picture for the use of exome sequencing for patients with
epilepsy,” said Paul Kruszka, Chief Medical Officer at GeneDx.
“Between expanding payer coverage, the diagnostic power of exome
sequencing, and the clinical guidelines, providers should feel
confident in offering exome sequencing as a first-tier test to
their patients. The time is now for exome sequencing to be embraced
as the standard of care for this patient population.”
Epilepsy impacts approximately 1.2% of the US
population, with just under a half a million cases in pediatric
patients.2 Nearly 50% of unexplained epilepsy cases likely have a
genetic cause.1 Identifying the specific disease-causing variant in
epilepsy patients enables a more precise treatment plan, including
avoiding, stopping, or initiating specific medication or diet
recommendations, and can qualify patients for clinical trials.
At the conference, GeneDx will also be hosting an
industry sponsored symposium discussing the ways in which exome
sequencing can help epilepsy patients find answers sooner. In that
panel discussion:
- Dr. Heather Mefford, MD, PhD, FACMG, of the Center for
Pediatric Neurological Disease Research at St. Jude’s Children’s
Research Hospital, will review the current guidelines, which
support exome sequencing as a first-tier test for patients with
epilepsy, and describe the clinical utility for patient care and
management.
- Parents of three individuals with epilepsy will share their
lived experiences with genetic testing, including the psychological
benefits of having a precise diagnosis, having a clearer
understanding of how their child’s symptoms may change as they age,
and the sense of belonging and community a genetic diagnosis can
provide.
Full 2023 AES Conference
participation:
- Platform Session Clinical Research/Poster
1.204: Exome-Based Testing for Patients with
Seizures: Advantages over Panel-Based Testing (Michelle M
Morrow, Kirsty McWalter, Elizabeth Butler, Lindsay Havens, Melanie
P Napier, Karen E Wain, Paul Kruszka)
- Poster 2.482: Payer Coverage for Epilepsy:
Broader Coverage for Exome Sequencing Compared to Multigene Panels
and Genome Sequencing (Sarah Soto, Stephanie Gandomi, Jane
Juusola)
- Corporate Satellite Symposium: The Clinical
and Personal Value of a Genetic Diagnosis for Epilepsy: Patient and
Caregiver Perspectives
About GeneDxGeneDx (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, fueled by one of the world’s largest rare
disease data sets. For more information, please visit GeneDx.com
and connect with us on LinkedIn, Facebook, Twitter, and
Instagram.
Investor Relations
Contact:Investors@GeneDx.com
Media Contact:Press@GeneDx.com
References1. 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. Epub 2021 Dec 10.2. Zack MM, Kobau R.
National and State Estimates of the Numbers of Adults and Children
with Active Epilepsy — United States, 2015. MMWR. 2017;66:821–825.
DOI: 10.15585/mmwr.mm6631a1
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