Announcement • Jul 22
Invitae Launches Unlock Behind the Seizure Program for Pediatric Epilepsy Patients Invitae 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 therapy. 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 epilepsy, 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. 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. Furthermore, healthcare providers reported that genetic diagnosis with this panel changed clinical management for half of the patients tested. In fact, in the clinical study by Knight 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 results. 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 research in rare disease drug discovery and connect patients to clinical trials and new therapies based on their genetic test results. Announcement • Jun 15
First Amended Disclosure Statement Approved for Invitae Corporation The US Bankruptcy Court approved the solicitation version of amended disclosure statement of Invitae Corporation on June 13, 2024. The debtor had filed its amended disclosure statement in the Court on June 13, 2024. June 6, 2024 has been fixed as voting record date. The deadline to vote on the plan and the plan objection deadline is July 15, 2024. The confirmation hearing for the plan has been scheduled for July 22, 2024. Announcement • Apr 11
Invitae Unveils New Research for Breast Cancer Patients with Variants of Uncertain Significance Invitae announced new studies to be presented at the American Society of Breast Surgeons Annual Meeting (ASBrS) held in Orlando from April 10-14, 2024. The featured research will highlight how machine learning can reduce variants of uncertain significance (VUS) in patients who have received genetic testing for breast cancer, in addition to results from real world data showing that uncertain results do not lead to an overuse of mastectomies for breast cancer patients. New findings show machine learning models can help reduce the burden on clinicians and patients in the process of resolving uncertain genetic test results for hereditary breast cancer, particularly for underrepresented populations. Due to limited evidence, classifying uncertain variants can be challenging. Individuals from certain racial, ethnic and ancestral (REA) populations are often underrepresented in large genomic databases and medical literature, leading to less definitive results, resulting in VUS which are at the center of healthcare disparities. To generate more definitive genetic testing results for these groups, the study sought to develop gene-specific machine learning models and evaluate their usefulness in genetic testing for patients with breast cancer. After validating gene-specific machine learning algorithms, the impact on variant classification was analyzed in patients with breast cancer who underwent hereditary cancer genetic testing from January 2022 - May 2023. The study found that among breast cancer patients who had at least one variant with machine learning evidence applied, more than 15% resulted in a definitive (non-VUS) variant classification. However, when stratifying the analysis by REA populations, a higher percentage of Black (22%), Asian (28%), and Hispanic (19%) individuals with breast cancer had a definitive classification that was determined by machine learning evidence compared to White (12%) individuals, suggesting that machine learning evidence is particularly useful for patients from historically underrepresented populations with breast cancer who undergo hereditary cancer testing. By reclassifying these VUS into definitive results, laboratories can help clinicians better manage the care of their patients and help reduce gaps in healthcare disparities across racial, ethnic, and socio-economic groups. Results offer reassurance that variants of uncertain significance in genetic testing results among breast cancer patients do not lead to overuse of breast surgeries, like mastectomies. Genetic testing for hereditary disease, which looks at genes that can directly inform surgical, medical and surveillance strategies for breast cancer risk-reduction and treatment, has become the standard of care for assessing hereditary cancer predisposition. Although this testing can lead to high rates of uncertain results, it has been unclear if these results impact clinical management. Conflicting results have been reported regarding whether patients with VUS are more likely to undergo breast surgeries, compared to those with negative results. This study titled, "Real-World Breast Surgery Utilization among Breast Cancer Patients with Germline Variants of Uncertain Significance," examines breast surgery uptake in a large, recent sample of breast cancer patients undergoing genetic testing. The study found, through a sample of more than 9,000 breast cancer patients, those with VUS results did not undergo surgical procedures more frequently than patients with negative results. These results offer reassurance that VUS results do not lead to overuse of mastectomies for breast cancer patients. 
