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 invitae.com.
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.
Contact:
pr@invitae.com
(628) 213-3283
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SOURCE Invitae Corporation