Invitae, a leading medical genetics company, has officially announced the launch of its Unlock™ Behind the Seizure® program, which is designed to provide you with accessible and affordable genetic testing for pediatric epilepsy patients. This it does to cut back on the diagnostic journey of a patient, and at the same time, help them chart a clear path towards effective, personalized care, and precision therapy. To understand the significance of such a development, we must acknowledge how millions of people, at the moment, suffer from epilepsy, with more than half the cases caused by genetic abnormalities. In response to that, clinical practice guidelines recommend genetic testing for all patients with otherwise unexplained epilepsy, a suggestion made partly because early genetic testing can provide a direct, cost-effective, and accurate tool to facilitate a diagnosis. Not just that, it is also associated with fewer invasive procedures for patients. Supporting that now is going to Invitae’s Unlock Behind the Seizure program and its ability to make testing for patients under the age of 18 more accessible and affordable. Markedly enough, the company has already conducted an extensive study on its approach, a study where it pitted the same against an exome test. Going by the available details, the study discovered how, among patients with epilepsy and a molecular diagnosis, those tested with Invitae’s epilepsy panel had a 1.4-fold higher rate of findings that impacted disease management or prevention, as compared to those tested with an exome test. Furthermore, the investigators learnt that genetic diagnosis with this panel changed clinical management for half of the patients tested.
In case the stated discovery didn’t sound significant enough, then we must mention how a clinical study by McKnight et al reached upon a conclusion that 67% of epilepsy patients, with positive results from genetic testing, experienced a reduction or elimination of their seizures. This happened when clinical treatment was documented as being changed based on the genetic test results.
“Using genetic testing as a first-line diagnostic, such as through Invitae’s Unlock Behind the Seizure, has been shown to dramatically decrease time to diagnosis for children experiencing unprovoked seizures. Earlier genetic diagnosis enables clinicians to provide precision therapies tailored to patients’ specific type of epilepsy sooner, reducing or eliminating seizures for many patients with genetic epilepsy, and opening the opportunity to enroll in precision therapy clinical trials for many others.” said Dr. Ed Esplin M.D., Ph.D., FACMG, Clinical Geneticist at Invitae. “Invitae is committed to improving outcomes for patients with a multitude of rare diseases.”
More on the program in question would reveal how, Invitae would typically return test results in about 10-21 days. Hold on, there is more. You see, we still haven’t discussed how, alongside helping patients get a genetic diagnosis and receive the most effective therapy, especially where therapies for specific conditions don’t yet exist, this program helps build the inclusiveness and diversity of Invitae’s rare disease database through invaluable genetic and clinical insights from the test results. Hence, teams can harness the said data to inform groundbreaking research in rare disease drug discovery, and at the same time, connect patients to clinical trials and new therapies based on their genetic test results.
At launch, the program is available to individuals in the United States who are under the age of 18 and have experienced an unprovoked seizure.
“To date, we have provided testing for over 5 million patients, giving answers to patients and their families. With this data set, we are generating one of the largest genomic datasets in service of rare disease treatment research,” said Espllin.