Study finds improved seizure control and positive outcomes in 75 percent of patients with actionable genetic findings that led to clinical management changes —

Data presented at the National Society of Genetic Counselors Annual Conference, which also included a ceremony honoring excellence in genetic counseling patient care —

Invitae, 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.”


tably, 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.

Source PRNewswire