SAN FRANCISCO, April 2, 2019 /PRNewswire/ -- Researchers
from Invitae (NYSE: NVTA), a leading genetics company, will present
data from more than 113,000 patients that support updating genetic
testing guidelines to include clear recommendations for multigene
panel testing in patients with cancer. According to the study,
patients with ovarian, breast, pancreatic, prostate and colorectal
cancer with potentially actionable germline variants are being
missed each year when clinicians adhere to guidelines that restrict
testing to one or a few gene panels.
The study is among the company's data presented this week at the
2019 American College of Medical Genetics and Genomics (ACMG)
Annual Clinical Genetics Meeting in Seattle.
"Genetic test panels that include just a few of the clinically
important genes provide incomplete genetic information for patients
and their clinicians, both in terms of informing treatment choices
and identifying additional health risks," said Robert Nussbaum, M.D., chief medical officer of
Invitae and one of the authors of the study. "Recommendations to
test small numbers of genes in cancer patients date to a time when
testing was much more expensive, multigene panels were not widely
available, cancer risks resulting from pathogenic changes in genes
other than BRCA1 or BRCA2 were not well described,
and cost was prohibitive. Today, comprehensive multi-gene panels
are affordable, widely available and clinically actionable. These
tests can identify variants in genes for which management
guidelines are available to guide treatment for these patients.
Multigene testing can also uncover valuable information for a
patient's family, allowing for increased screening among those at
risk that can potentially help prevent additional cancers."
Researchers from the company compared diagnostic yield and
clinical actionability in 113,107 patients with a personal history
of cancer who were tested using a comprehensive multigene panel
versus use of limited gene panels strategy. The data demonstrate
that comprehensive panel testing in patients with a broad range of
cancers yields actionable results for an additional 9,737 patients
per 113,107 patients tested. By having genetic information,
patients may have additional management options, such as
FDA-approved interventions, eligibility for clinical trials,
screening and prophylaxis based on germline status, as well as the
opportunity for cascade family variant testing for family members
who may be at increased risk.
Invitae's additional research presentations at
ACMG includes four platform presentations, two top-rated
posters and three additional posters. These studies reflect the
breadth and impact of innovation at Invitae, ranging from
sophisticated improvements in laboratory methods to novel clinical
utility studies that have the potential to change the practice of
medicine.
Platform Presentations
- Platform presentation 14: Analysis of Mosaicism for Sequence
and Copy Number Variants in a Broad Diversity of Hereditary
Disorders in a Large Clinical Cohort. Rebecca Truty, PhD. Wednesday 4/3 4:15-4:30pm
- Platform presentation 16: A Rigorous Examination of the Need
for Sanger Confirmation in Clinical Genetic Testing. Stephen Lincoln. Wednesday 4/3 4:45-5:00pm
- Platform Presentation 27: Limitations of HBOC
Direct-To-Consumer Genetic Screening: False Positives, False
Negatives and Everything in Between. Ed
Esplin, MD, PhD, FACMG, FACP. Thursday 4/4 8:30-8:45am
- Platform Presentation 45: Comprehensive Multigene Panels in
Cancer Patients: Increased Diagnostic Yield and Clinical Utility.
Ed Esplin, MD, PhD. Friday 4/5.
5-5:15pm
Poster Presentations
- Poster 662: Top Rated Poster. Expanding Spinal Muscular Atrophy
Diagnosis Through Multi-Gene Panel Testing. Christopher Tan, MS, LCGC. Friday 4/5
10:30-12pm &*Rapid Fire Poster
Session* Thursday 4/4 11:15-11:45am
- Poster 701: The common variant rs1805128 in the KCNE1 gene is an
independent risk allele for cardiac arrhythmias. Matteo Vatta, PhD, FACMG. Thursday 4/4,
10-11:30am
- Poster 702: Harmonizing clinical interpretation of intragenic
sequence and copy number variants in monogenic disease.
Yuya Kobayashi, PhD. Friday 4/5
10:30-12pm
- Poster 757. Show Me The Phenotype: The Ordering Clinician's
Role in Genetic Variant Interpretation for Primary Immunodeficiency
Diseases. Britt Johnson, PhD, FACMG.
Thursday 4/4. 10-11:30am
- Poster 950. Top Rated Poster. Cascade Testing Barriers: Impact
of a No-Additional Cost Family Variant Testing Program on Uptake of
Hereditary Cancer Risk Assessment. Rachel
Miller, MS, LCGC. Friday 4/5 10:30-12pm
About Invitae
Invitae Corporation (NYSE:
NVTA) is a leading 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 relating to the company's research supporting
the need for updated genetic testing guidelines to include
multigene testing for cancer patients; the benefits of multigene
testing and access to genetic information; and the breadth and
impact of innovation at the company. Forward-looking statements are
subject to risks and uncertainties that could cause actual results
to differ materially, and reported results should not be considered
as an indication of future performance. 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 the company's filings
with the Securities and Exchange Commission, including the risks
set forth in the company's Annual Report on Form 10-K for the year
ended December 31, 2018. These
forward-looking statements speak only as of the date hereof, and
Invitae Corporation disclaims any obligation to update these
forward-looking statements.
Contact:
Laura D'Angelo
pr@invitae.com
(628) 213-3283
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SOURCE Invitae Corporation