GeneDx launches exome sequencing access program for pediatric epilepsy patients

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Genetic testing firm has launched a patient access program aimed at increasing access to exome sequencing for pediatric patients with epilepsy.

In a statement, the Stamford, CT-based genetic testing firm noted that the program, developed in partnership with biopharma companies, is the first of its kind.

The company said that exome sequencing is recommended for patients with unexplained epilepsy by the National Society of Genetic Counselors as a first-line test to guide clinical decisions in treatment and that these guidelines are also endorsed by the American Epilepsy Society. Furthermore, research shows that exome sequencing can have a significant impact on treatment decisions and, as a result, improved seizure reduction.

However, access to exome testing is limited, and genetic diagnosis for some disorders, including epilepsy, can take up to five years, according to GeneDx.

While the aim of expanding access to exome sequencing is to ensure that more patients receive a diagnosis, GeneDx noted that the program will also expand its rare-disease dataset, which in turn will result in an improved understanding of gene-disease relationships, as well as accelerated clinical trial recruitment and drug discovery.

The patient access program has been made available to select ordering providers Wednesday, with anticipated complete availability in July. The program has the following eligibility criteria:

  • The patient must reside in the U.S.
  • The patient's ordering provider must be authorized under applicable law to order genetic testing in the U.S.
  • The patient must have experienced their first unprovoked seizure under 8 years of age.
  • The patient must not have had prior genetic testing performed by a clinical laboratory that confirmed a diagnosis of a neurodevelopmental disorder.
  • The patient must be under 18 years of age.

Visit GeneDx’s site for more information on the program.

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