– Program provides accessible and affordable
testing for pediatric epilepsy patients –
– Genetic and clinical insights from test results
to strengthen Invitae's rare disease database –
SAN
FRANCISCO, July 22, 2024 /PRNewswire/ --
Invitae (OTC: NVTAQ), a leading medical genetics company,
today announced the launch of its Unlock™ Behind the
Seizure® program, which provides accessible and
affordable genetic testing for pediatric epilepsy patients in the
hopes of shortening the diagnostic odyssey and enabling a path
towards effective, personalized care and precision
therapy1.
Millions of people worldwide live with epilepsy and more than
half of epilepsies are caused by genetic abnormalities. Clinical
practice guidelines recommend genetic testing for all patients with
otherwise unexplained epilepsy2, in part because early
genetic testing can provide a direct, cost-effective and accurate
tool to help support a diagnosis, and is associated with fewer
invasive procedures for patients.3
Invitae Unlock Behind the Seizure is designed to make testing
for patients under the age of 18 more accessible and affordable by
assisting patients. Invitae believes that with results from this
program, healthcare providers may gain insights into the underlying
genetic cause of their patients' epilepsy, which can inform
tailored treatment plans.
In a study, Invitae found that 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 impact disease
management or prevention, compared to those tested with an exome
test.4 Furthermore, healthcare providers reported
that genetic diagnosis with this panel changed clinical management
for half of the patients tested.5 In fact, in the
clinical study by McKnight et al. 67% of epilepsy patients with
positive results from genetic testing experienced a reduction or
elimination of their seizures, when clinical treatment was
documented as being changed based on the genetic test
results5.
In addition to helping patients get a genetic diagnosis and
receive the most effective therapy, where therapies for specific
conditions don't yet exist, this program helps build the
inclusiveness and diversity of Invitae's rare disease database with
invaluable genetic and clinical insights from the test results.
Biopharma teams harness these insights to inform groundbreaking
research in rare disease drug discovery and connect patients to
clinical trials and new therapies based on their 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. 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."
Invitae typically returns results within 10-21 days. The recent
median turnaround time for this test is 7.5 calendar days,
accelerating the time to critical answers for patients and their
families who need them most.6 This program is available
to individuals in the United
States who are under the age of 18 and have experienced an
unprovoked seizure. To learn more or to access the program, visit
https://www.invitae.com/us/unlock-genetic-testing/behind-the-seizure.
About Invitae
Invitae (OTC: NVTAQ) is a leading
medical genetics company trusted by millions of patients and their
providers to deliver timely genetic information using digital
technology. We aim to provide accurate and actionable answers to
strengthen medical decision-making for individuals and their
families. Invitae's genetics experts apply a rigorous approach to
data and research, serving as the foundation of their mission to
bring comprehensive genetic information into mainstream medicine to
improve healthcare for billions of people.
To learn more, visit invitae.com and follow for
updates on LinkedIn, X, Instagram, and Facebook @Invitae.
Safe Harbor Statement
This press release contains
forward-looking statements within the meaning of the Private
Securities Litigation Reform Act of 1995, including statements
relating to the company's beliefs regarding genetic testing for
pediatric epilepsy patients and its Unlock Behind the Seizure
program; and the potential results and benefits for the program to
strengthen the company's rare disease database, and the ability of
biopharma teams to utilize this information. Forward-looking
statements are subject to risks and uncertainties that could cause
actual results to differ materially, and reported results should
not be considered as an indication of future performance. These
risks and uncertainties include, but are not limited to: the
applicability of clinical results to actual outcomes; the company's
ability to use rapidly changing genetic data to interpret test
results accurately and consistently; risks and uncertainties
regarding the company's ability to successfully consummate and
complete a plan under chapter 11 or any strategic or financial
alternative as well as the company's ability to implement and
realize any anticipated benefits associated with its sale of assets
to Labcorp and any alternative that may be pursued, including the
asset sales and wind down of operations; potential adverse effects
of the chapter 11 cases on Invitae's business, financial condition,
liquidity and results of operations; employee attrition and
Invitae's ability to retain senior management and other key
personnel due to the distractions and uncertainties caused by the
chapter 11 cases; Invitae's ability to maintain relationships with
suppliers, customers, employees, regulatory authorities and other
third parties as a result of the chapter 11 cases; the company's
public securities' potential liquidity and trading; and any impact
resulting from the delisting of the company's common stock from the
New York Stock Exchange and trading instead on the OTC Pink
Marketplace; and the other risks and uncertainties disclosed in
Invitae's annual and quarterly periodic reports and other documents
filed with the U.S. Securities and Exchange Commission. These
forward-looking statements speak only as of the date hereof, and
Invitae Corporation disclaims any obligation to update these
forward-looking statements, whether as a result of new information,
future developments, or otherwise, except as required by law.
Invitae PR Contact
Amy Sands
Hadsock
pr@invitae.com
- Truty R, et al. Possible precision medicine implications from
genetic testing using combined detection of sequence and intragenic
copy number variants in a large cohort with childhood epilepsy.
Epilepsia Open. 2019 Jul
1;4(3):397-408. doi: 10.1002/epi4.12348. PMID:
31440721.
- Smith L, 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. Epub 2022 Oct 24. PMID:
36281494.
- Swartwood SM, et al. Genetic testing for the epilepsies: A
systematic review. Epilepsia. 2022 Feb;63(2):375-387. Early Genetic
Testing in Pediatric Epilepsy: Diagnostic and Cost Implications.
Epilepsia Open. 2023
- Invitae data on file.
- McKnight D et al. Genetic Testing to Inform Epilepsy Treatment
Management From an International Study of Clinical Practice. JAMA
Neurol. 2022
- Invitae data on file, median TAT of 7.5 during Q2 2024.
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SOURCE Invitae Corporation