Sema4|GeneDx Commends New Evidence-Based Guidelines from the National Society of Genetic Counselors Recommending Exome Sequencing as a First-Tier Genetic Test for Unexplained Epilepsies

Rhea-AI Summary

Sema4 (Nasdaq: SMFR) supports the National Society of Genetic Counselors' new guidelines recommending exome sequencing as the first-tier test for individuals with unexplained epilepsy. This is a significant step forward, as many cases of unexplained epilepsy have genetic causes that can impact treatment and management. The guidelines aim to reduce the lengthy diagnosis time, which can average over six years and lead to high healthcare costs. Sema4 advocates for utilizing its extensive clinical exome data to enhance diagnostic accuracy and patient care.

Positive

• Adoption of exome sequencing as a first-tier test could improve diagnostic accuracy for unexplained epilepsy.
• The guidelines reflect a broader trend in genetic testing for neurodevelopmental disorders, indicating potential market growth.
• Sema4's database of over 400,000 clinical exomes positions the company as a leader in genomic testing.

Negative

• None.

Guideline adoption can help end the diagnostic odyssey experienced by many families

STAMFORD, Conn., Oct. 31, 2022 (GLOBE NEWSWIRE) -- Sema4 (Nasdaq: SMFR), a health insights company, supports the new National Society of Genetic Counselors guidelines recommending exome sequencing as a first-tier test, to be prioritized over multi-gene panels for all individuals with unexplained epilepsy, and applauds the American Epilepsy Society for endorsing these guidelines. This is the first evidence-based guideline for genetic testing for individuals with unexplained epilepsy, and the implications are vast, as a significant amount of unexplained epilepsy has a genetic cause¹. In many cases, identifying a molecular genetic cause of epilepsy can have implications for treatment and management, including avoiding, stopping, or initiating specific medication or diet recommendations and clinical trial eligibility.

These recommendations mirror guidelines for other neurodevelopmental disorders such as intellectual disabilities and developmental delays in that they recommend genome and exome sequencing as first-tier tests. A child with neurodevelopmental disorders is likely to wait² more than six years on average for a genetic diagnosis; accrue more than $10,000 in additional health costs; and undergo more than five uninformative tests. These new guidelines demonstrate the importance and advantage of ordering exome sequencing first rather than chromosomal microarray analysis panel testing; in which diagnostic rates are highest³ for whole genome sequencing (48%), followed by whole exome sequencing (24%). Chromosomal microarray analysis has the lowest diagnostic rate (9%).

Leveraging one of the world’s largest data sets of more than 400,000 clinical exomes, we have seen first-hand the power of genomic sequencing for improving diagnostic certainty and believe these new guidelines will unlock insights and improve patient care.

About Sema4|GeneDx
Sema4|GeneDx is a patient-centered health intelligence company dedicated to advancing healthcare through data-driven insights. Sema4 is transforming healthcare by applying AI and machine learning to multidimensional, longitudinal clinical and genomic data to build dynamic models of human health and defining optimal, individualized health trajectories. Centrellis™, our innovative health intelligence platform, is enabling us to generate a more complete understanding of disease and wellness and to provide science-driven solutions to the most pressing medical needs. Sema4 believes that patients should be treated as partners, and that data should be shared for the benefit of all. For more information, please visit sema4.com and connect with us on LinkedIn, Twitter, Facebook, and Instagram.

Media Contact
Radley Moss
radley.moss@sema4.com

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¹ Source: Smith, L., Malinowski, J., et al. (2022). Genetic testing and counseling for the unexplained epilepsies: An evidence-based practice guideline of the National Society of Genetic Counselors. Journal of genetic counseling, 10.1002/jgc4.1646. Advance online publication. https://doi.org/10.1002/jgc4.1646

² Source: Soden, S. E., Saunders, C. J., et al. (2014). Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Science translational medicine, 6(265), 265ra168. https://doi.org/10.1126/scitranslmed.3010076

³ Source: Sheidley, B. R., Malinowski, J., et al. (2022). Genetic testing for the epilepsies: A systematic review. Epilepsia, 63(2), 375–387. https://doi.org/10.1111/epi.17141

FAQ

What is the significance of the new guidelines from the National Society of Genetic Counselors for Sema4?

The new guidelines recommend exome sequencing as the first-tier test for unexplained epilepsy, potentially enhancing patient care and diagnostic accuracy.

How does Sema4 plan to use its extensive clinical exome data?

Sema4 aims to leverage its database of over 400,000 clinical exomes to improve diagnostic certainty and patient outcomes.

What impact do the new guidelines have on the genetic testing market?

The guidelines suggest a shift towards exome sequencing, which could lead to increased demand for genetic testing services, benefiting companies like Sema4.

What financial implications arise from the adoption of these guidelines for Sema4?

The adoption of exome sequencing could enhance Sema4's market position and potentially lead to increased revenues from genetic testing services.