New Study Highlights the Value of Genetic Testing to Guide Clinical Management and Improve Outcomes for Epilepsy Patients

SAN FRANCISCO, Sept. 25, 2021 /PRNewswire/ — Invitae (NYSE: NVTA), a leading medical genetics company, today presented research demonstrating that genetic findings informed clinical management changes that led to improved seizure control and outcomes in the majority of epilepsy patients with actionable findings. This study underscores the importance of genetic testing for all people with epilepsy and supports the growing evidence that medical genetic testing can improve health outcomes and reduce healthcare costs. The findings were presented at the National Society of Genetic Counselors 40th Annual Conference.

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

Notably, the research found that a change in clinical management once genetic results were received was reported by clinicians for nearly half of patients. Furthermore, the majority of cases had a change in clinical management within three months of receiving positive genetic testing results, such as antiseizure medication adjustments. 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, academics and movement issues.

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

Oral platform presentations:

  • Epilepsy genetic testing guides clinical management and helps improve patient outcomes. Presented by Ana Morales, MS, CGC (Invitae)
  • Underutilization of germline testing for prostate cancer patients: Are genetic testing criteria a tool or an obstacle? Presented by Sarah Nielsen, MS, CGC (Invitae)
  • Genetics professionals’ perspectives on the reporting of variants of uncertain significance (VUS) – Should they always be returned? Presented by Michelle Fox, MS, LCGC (Invitae)
  • Poster presentations:
  • PTC Pinpoint CP Spectrum: A sponsored, no-cost 265-gene panel for patients with symptoms suggestive of CP and absence of risk factors for an acquired brain injury. Presented by Jeffrey Kopesky (PTC Therapeutics)
  • Improving the rate of positive results in reproductive carrier screening by leveraging variant classification evidence derived from diagnostic genetic testing in affected individuals. Presented by Julia Wilkinson, MS, CGC (Invitae)

In addition to presenting its research, Invitae partnered with NSGC to present the Heart of Genetic Counseling Award, which honors excellence in genetic counseling and patient care as recognized by patients. Nominations included stories from patients that highlight both the clinical and personal impact a genetic counselor had on their lives and the lives of their families.

The 2021 Heart of Genetic Counseling Award winner was Pilar Magoulas, MS, CGC of Baylor College of Medicine/Texas Children’s Hospital. Nominated for her devotion to families with cardiofaciocutaneous (CFC) syndrome and years of volunteering that has helped expand the understanding of CFC syndrome and helped hundreds of families better care for their loved ones with syndrome-specific information.

Other finalists included Amie Hass, MSN, ARNP, Hall-Perrine Cancer Center, Cedar Rapids, IA, for her work helping a family with Li-Fraumeni syndrome, a genetic condition that increases cancer risk, by outlining the necessary preventative care and finding the best treatment protocol when cancers occurred. 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, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae’s goal is to aggregate the world’s genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company’s website at

Safe Harbor Statement

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements regarding the findings and implications of the study; and the value of genetic testing to guide clinical management and improve outcomes for epilepsy patients. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially. These risks and uncertainties include, but are not limited to:  the company’s history of losses; the company’s ability to compete; the company’s failure to manage growth effectively; 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 use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company’s business; and the other risks set forth 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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