Invitae now offers an extensive genetic testing panel to better support the needs of clinicians and patients
Invitae Corporation (NYSE: NVTA), a genetic information company, today announced that it has expanded its epilepsy testing menu, now offering an extensive panel with more than 100 carefully curated genes that are among the most clinically significant for this life-threatening condition. The menu also includes a smaller panel specifically for early infantile epileptic encephalopathy and one specifically for syndromic forms of epilepsy. Because Invitae offers easily customizable panels, physicians can choose to build their own panels for patients with a clinically unambiguous phenotype or where biochemical or other testing points to specific genes. For example, genes for progressive myoclonic epilepsy or creatine deficiency may be specifically selected for testing.
Invitae’s epilepsy panel includes a number of genes in which discovery of pathogenic variants would guide clinical management and could lead to potentially life-saving treatments. These include SCN1A, SLC2A1, ALDH7A1, SLC6A8, PNPO, and several others. Invitae’s panel also includes genes for several disorders that fall in the differential diagnosis for Rett and Angelman syndromes and may be considered in children with features of these syndromes.
Additionally, Invitae’s epilepsy panel can be combined for no additional charge with other panels or a single gene test for relevant developmental disorders where clinically appropriate, such as RASopathies, ciliopathies, and CHARGE syndrome (CHD7), for those patients who present with multiple anomalies and require broader testing.
"Providing genetic testing to epilepsy patients in an affordable, cost-efficient way is key to promoting better overall health for individuals affected with this devastating range of conditions," said Elliott Sherr, MD PhD, Professor of Neurology and Pediatrics at UCSF (Epi4K investigator, PI of Project 1, discovery of the genes responsible for epileptic encephalopathies). "Invitae's mission not only helps clinicians identify the underlying genetic causes in epilepsy patients, but it also promotes contribution of valuable information back to researchers in the form of collaborations and data-sharing."
"Identifying the underlying genetic causes of epilepsy is a significant factor in the effective treatment and management of epilepsy. Poorly controlled or incorrectly treated seizures are both risk factors for sudden unexplained death in epilepsy (SUDEP), which is a devastating outcome for any family,“ said Tom Stanton, Executive Director of the Danny Did Foundation. “By working to make genetic testing widely accessible and affordable to individuals affected by epilepsy, Invitae’s epilepsy test could potentially help patients to have a better understanding of the underlying genetic etiology of epilepsy and reduce the tragic risk of SUDEP."
Invitae’s team of medical and genetic experts has strong experience in the field of epilepsy genetics and an awareness of the needs of patients and advocacy groups. Invitae combines full-gene next-generation sequencing and deletion/duplication analysis with rigorous evidence-based variant classification methods to provide clearly interpreted diagnostic results in an average of three weeks.
"When caring for epilepsy patients, it is critical to provide management teams as much information as possible," said Robert Nussbaum, MD, chief medical officer of Invitae. "Genetic information can be key to implementing proper treatments for seizure control. Invitae strives to provide clinicians with comprehensive genetic testing results that can immediately be integrated into patient care."
Invitae offers a transparent pricing structure independent of the number of genes required to provide an accurate diagnosis for any specific clinical indication. For payers and institutions that are in contract with Invitae, the price per indication can be as low as $950, depending on the payer’s requirements. For third-party payers with whom Invitae is out-of-network and for non-contracted institutions, the price per indication is $1,500. In addition, for patients without third-party insurance coverage or who do not meet insurance criteria for coverage, Invitae offers its full test menu for $475 per indication for patients whose clinician has ordered the testing online and who register online and pay in advance for the testing.
Invitae Corporation's (NYSE: NVTA) mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Invitae’s goal is to aggregate most of the world’s genetic tests into a single service with higher quality, faster turnaround time, and lower price than many single-gene and panel tests today. The company currently provides a single diagnostic service comprising hundreds of genes for a variety of genetic disorders associated with oncology, cardiology, neurology, pediatrics and other rare disease areas.
Safe Harbor Statements
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 belief that it can accelerate the adoption of comprehensive genetic information into mainstream medical care and realize its mission; the company’s belief that providing genetic testing in a cost-efficient way is key to promoting better overall health for individuals affected with epilepsy; the company’s ability to help clinicians identify the underlying genetic causes in epilepsy patients; the importance of genetic information in implementing proper treatments for seizure control; the ability of the company’s tests to lead to potentially life-saving treatments; the timing of any new testing service releases and the attributes of any such services; the company’s beliefs regarding the benefits of its pricing program; the benefits of data-sharing and collaboration with researchers; the attributes and benefits of the company’s tests to patients, physicians and payers; and the indicators of the company’s success and its expected actions with respect to those indicators. 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 company’s history of losses; the company’s need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company’s ability to develop and commercialize new tests and expand into new markets; the risk that the company may not obtain or maintain sufficient levels of reimbursement for its tests; risks associated with the company’s ability to use rapidly changing genetic data to interpret test results accurately and consistently; the company’s ability to compete; laws and regulations applicable to the company’s business, including potential regulation by the Food and Drug Administration; and the other risks set forth in the company’s filings with the Securities and Exchange Commission, including the risks set forth in the company’s Quarterly Report on Form 10-Q for the quarter ended September 30, 2015. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.
Source: Invitae Corporation