– Study reveals better seizure control and positive outcomes in 75 percent of patients with actionable genetic findings that led to changes in clinical management –

– Data presented at the National Society of Genetic Counselors annual conference, which also included a ceremony honoring excellence in patient care in genetic counseling –

SAN FRANCISCO, September 25, 2021 / PRNewswire / – Invitae (NYSE: NVTA), a leading medical genetics companies, today presented a study demonstrating that genetic findings have influenced clinical management changes that have improved the control of seizures and results in the majority of epilepsy patients with actionable results. This study highlights the importance of genetic testing for all people with epilepsy and supports the growing evidence that medical genetic testing can improve health outcomes and lower health care costs. The results were presented at the 40th annual conference of the National Society of Genetic Counselors.

The mission of Invitae (NVTA) is to bring comprehensive genetic information into traditional medical practice to improve the quality of healthcare for billions of people. www.invitae.com (PRNewsFoto / Invitae Corporation)

“Epilepsy impacts the lives of approximately 50 million people worldwide and our results once again demonstrate the value of genetic testing in guiding precision treatment decisions for these patients,” said the main author of the study, Dee McKnight, PhD, FACMG. “These results build on the growing evidence that genetic testing at the first presentation of epilepsy may be a key part of an accurate diagnosis and may play an important role in its initial treatment and ongoing management, improving outcomes. for health and reducing health care costs. “

Notably, research found that a change in clinical management once genetic results were received was reported by clinicians for almost half of patients. In addition, the majority of cases have had a change in clinical management within three months of receiving positive genetic test results, such as adjustments to antiepileptic drugs. Positive patient outcomes were reported in 75 percent of patients, including reduction or complete resolution of seizures after treatment changes as well as improvements in behavior, development, studies, and movement problems.

The research was presented virtually at the annual meeting of the National Society of Genetic Counselors. Invitae’s full research presentation included:

Oral presentation platforms:

  • Genetic testing for epilepsy guides clinical management and helps improve patient outcomes. Presented by Ana Morales, MS, CGC (Guest)

  • Underuse of Germline Testing for Prostate Cancer Patients: Are Genetic Testing Criteria a Tool or a Barrier? Presented by Sarah nielsen, MS, CGC (Guest)

  • Views of Genetics Professionals on Reporting Variants of Uncertain Significance (SUVs) – Should They Always Be Returned? Presented by michelle fox, MS, LCGC (Guest)

  • Poster presentations:

  • PTC Pinpoint CP Spectrum: a panel of 265 sponsored genes free of charge for patients with symptoms suggestive of PC and the absence of risk factors for acquired brain injury. Presented by Jeffrey Kopesky (PTC Therapeutics)

  • To improve the rate of positive results in the screening of reproductive carriers by taking advantage of the classification evidence for variants derived from genetic diagnostic tests in affected individuals. Presented by Julia wilkinson, MS, CGC (Guest)

In addition to showcasing their research, Invitae partnered with the NSGC to present the Heart of Genetic Counseling Award, which recognizes excellence in genetic counseling and patient care recognized by patients. The appointments included patient stories that highlight the clinical and personal impact of a genetic counselor on their lives and that of their families.

The 2021 Heart of Genetic Counseling Award winner was Pilar Magoulas, MS, CCG de Baylor College of Medicine/ Texas Children’s Hospital. Nominated for her dedication to families with cardiofacio-cutaneous syndrome (CFC) and years of volunteerism that has helped broaden understanding of CFC syndrome and helped hundreds of families take better care of their loved ones with information specific to the syndrome .

Other finalists included Friend Hass, MSN, ARNP, Hall-Perrine Cancer Center, Cedar Rapids, IA, for her work with a family with Li-Fraumeni syndrome, a genetic disease that increases cancer risk, outlining the preventive care needed and finding the best treatment protocol when cancers arise. Prescilla Carrion, MSc, CGC, CCGC, Department of Psychiatry, University of British Columbia, was also named a finalist for using the family tree as a tool to help people with mental health issues understand the role of genetics.

About Invitae

Invitae Corporation (NYSE: NVTA) is a leading medical genetics company with a mission to bring comprehensive genetic information to traditional medicine to improve healthcare for billions of people. Invitae’s goal is to bring together the world’s genetic testing into one service with higher quality, faster turnaround time, and lower prices. For more information, visit the company’s website at invitae.com.

Safe Harbor Declaration

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements regarding the conclusions and implications of the study; and the value of genetic testing in guiding clinical management and improving outcomes for patients with epilepsy. Forward-looking statements are subject to risks and uncertainties which could cause actual results to differ materially. These risks and uncertainties include, but are not limited to: the company’s loss history; the company’s competitive capacity; the inability of the business to effectively manage its growth; the need of the company to evolve its infrastructure before the demand for its tests and to increase the demand for its tests; the company’s ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, data loss and other disruptions; the laws and regulations applicable to the activity of the company; and other risks set out in Invitae’s quarterly report on Form 10-Q for the quarter ended June 30, 2021. These forward-looking statements speak only as of the date hereof, and Invitae disclaims any obligation to update these forward-looking statements.

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