GeneDx Announces Patient Access Program to Expand Access to Exome Testing for Pediatric Epilepsy Patients

Rhea-AI Summary

GeneDx (Nasdaq: WGS) has announced a new patient access program to increase accessibility to exome sequencing for pediatric epilepsy patients. The program, developed with biopharma partners, aims to provide equitable care and overcome cost barriers for genetic testing. Exome testing, recommended as a first-line test by the National Society of Genetic Counselors and endorsed by the American Epilepsy Society, offers a nearly 25% diagnostic rate for epilepsy, higher than traditional multi-gene panels. Research indicates that genetic diagnoses can lead to up to 90% seizure reduction in some cases. The program will launch to select providers today, with full availability in July.

Positive

• Patient access program aims to increase availability of exome sequencing for pediatric epilepsy patients.
• Program developed in partnership with leading biopharma companies.
• Exome testing recommended as first-line test by National Society of Genetic Counselors and endorsed by American Epilepsy Society.
• Exome diagnostic rates for epilepsy nearly 25%, higher than less than 20% for multi-gene panels.
• Genetic diagnosis can lead to up to 90% seizure reduction in some cases.
• Program ensures more equitable care by overcoming cost barriers for genetic testing.
• Program supports GeneDx’s industry-leading rare-disease data set.
• Access to robust data and insights could accelerate clinical trial recruitment and drug discovery for biopharma partners.
• Program starts rolling out today with full availability in July.

Negative

• Access to genetic testing remains sparse despite clinical support and guidelines.
• Genetic diagnosis for rare disorders, including epilepsy, can take up to 5 years.
• Patient eligibility criteria might limit the number of beneficiaries.
• Initial program rollout to select ordering providers.

Insights

Medical Research Analyst

GeneDx’s introduction of a patient access program for pediatric epilepsy exome testing marks a pivotal development in the field of genetic diagnostics. Exome sequencing examines a person's genes—crucial segments of DNA that code for proteins, significantly enhancing diagnostic accuracy for complex conditions like epilepsy.

This initiative responds to the existing gap in genetic testing access. For context, exome tests are often more comprehensive than multi-gene panels, offering a 25% diagnostic rate compared to less than 20% for traditional methods. This means more children can receive timely and accurate diagnoses, which is vital because early detection can guide more effective treatment plans.

Furthermore, the strategic partnership with biopharma companies is noteworthy. By extending the availability of genetic testing, GeneDx not only aids patients but also gathers extensive data on rare diseases. This data can be invaluable for drug discovery and clinical trial recruitment, potentially accelerating the development of new therapies.

However, there are challenges. The eligibility criteria might inadvertently exclude some patients, which could limit the program’s reach. Also, GeneDx needs to ensure that the partnership with biopharma companies is transparent, maintaining patient data privacy and ethical standards.

In summary, this program could lead to significant advancements in pediatric epilepsy treatment, making it an essential development for stakeholders to watch.

Financial Analyst

From a financial perspective, GeneDx's new patient access program can be perceived as both a strategic and altruistic move. By subsidizing the cost of exome testing, GeneDx is likely to see an increase in test volumes, which could enhance top-line growth despite the initial outlay. This expansion into a broader patient base could lead to a more stable revenue stream over time.

Moreover, the collection of genomic data presents another revenue opportunity. This rich dataset is a treasure trove for biopharma companies focusing on rare diseases, facilitating more efficient clinical trials and contributing to faster drug development. Hence, GeneDx might also see a financial upside through partnerships or data monetization.

However, investors should consider the financial risks. The upfront costs for launching and maintaining such a program can be substantial. GeneDx’s ability to manage these expenses while ensuring profitability will be critical. Additionally, insurance reimbursement rates and policies around genetic testing can fluctuate, potentially affecting revenue predictability.

Overall, while the short-term financial impact might be mixed, the long-term potential looks promising, particularly if the program is well-executed and managed.

STAMFORD, Conn., June 05, 2024 (GLOBE NEWSWIRE) -- GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, today announced the first-of-its-kind patient access program, developed in partnership with leading biopharma companies, which aims to increase access to exome sequencing for pediatric epilepsy patients.

“Receiving a genetic diagnosis can be critical in a child’s journey toward effective treatment and care, and we are thrilled our biopharma counterparts recognize the value that exome testing offers to pediatric epilepsy patients over traditional panel testing,” said Katherine Stueland, Chief Executive Officer at GeneDx. “We believe that cost should never be a barrier in accessing critical health information and we are steadfast in our commitment to investing in partnerships that allow us the opportunity to expand access to exome and genome testing for all patients who can benefit.”

Through the patient access program, GeneDx is helping to ensure more equitable care across patient populations. While payor coverage for exome testing has improved, this program may help expand access of necessary genetic testing for pediatric epilepsy patients.

Exome testing is recommended as a first-line test for individuals with unexplained epilepsy by the National Society of Genetic Counselors and these guidelines are endorsed by the American Epilepsy Society.¹ In addition to these medical guidelines, research shows that a genetic diagnosis can further guide clinical decisions, with patients experiencing up to 90% seizure reduction in some cases and up to 80% of cases having implications for treatment and management.² However, despite the overwhelming clinical support and guidelines, access to testing is sparse, and genetic diagnosis for rare disorders, including epilepsy, can take up to 5 years.³

Expanding access to exome testing not only ensures that more patients receive a diagnosis, with exome diagnostic rates for epilepsy at nearly 25% compared to the less than 20% diagnostic rate offered by multi-gene panels,⁴ but it also creates the opportunity for GeneDx to better understand gene-disease relationships through the robust data and insights delivered with an exome result. The utilization of this program will continue to fuel GeneDx’s industry-leading rare-disease data set, which can help support biopharma partners to bring therapies to patients faster, by accelerating clinical trial recruitment and drug discovery.

To be eligible for the Patient Access Program: Epilepsy patients must meet certain criteria, including the following:

• Patient must reside in the United States
• Patient’s ordering provider must be authorized under applicable law to order genetic testing 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 which confirmed a diagnosis of a neurodevelopmental disorder (NDD)
• Patient must be less than 18 years of age
  

The new patient access program is rolling out to select ordering providers today, with a complete availability in July. 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.

Contact:
Press@genedx.com

Investors@genedx.com

References
1. 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.
2. 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.
3. 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.
4. 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.

FAQ

What is the new GeneDx patient access program?

GeneDx has announced a program to increase accessibility to exome sequencing for pediatric epilepsy patients.

What is the aim of the GeneDx patient access program?

The program aims to provide equitable care and overcome cost barriers for genetic testing.

Who has GeneDx partnered with for the patient access program?

GeneDx has partnered with leading biopharma companies to develop the program.

When will the GeneDx patient access program be fully available?

The program is rolling out to select providers today, with full availability in July.

What is the diagnostic rate for epilepsy using exome testing?

The diagnostic rate for epilepsy using exome testing is nearly 25%, higher than the less than 20% rate for multi-gene panels.

What are the benefits of a genetic diagnosis for epilepsy patients?

A genetic diagnosis can lead to up to 90% seizure reduction in some cases and better treatment and management.

What criteria must patients meet to be eligible for the GeneDx patient access program?

Patients must meet criteria such as residing in the U.S., having an authorized provider, experiencing their first unprovoked seizure under 8 years of age, and being under 18, among others.