SAN FRANCISCO, Oct. 17, 2017 /PRNewswire/ -- Invitae Corporation
(NYSE: NVTA), one of the fastest growing genetic information
companies, is presenting data showing genetic sequencing and copy
number variant (CNV) detection performed together using
expert-curated panels offers better diagnosis rates over sequencing
alone in patients with neuromuscular disorders and childhood
epilepsy. The studies are among the company's 15 posters and
presentations at the 2017 American Society of Human Genetics (ASHG)
Annual Meeting in Orlando.
"These data highlight the utility of evaluating both genetic
variants and copy number variants on a single testing platform to
help clinicians more quickly diagnose patients. Our data also
highlight the ability of expertly curated, disease-specific panels
to be a more rapid, cost-effective first step for diagnosis that
can be used before exome testing when diagnosing epilepsy and
neuromuscular disorders," said Robert
Nussbaum, MD, chief medical officer of Invitae.
"Well-designed testing and innovative techniques can help shorten
the often lengthy process of elimination that can accompany
diagnosing genetic disease."
Using high-depth next generation sequencing with custom
bioinformatics that enables simultaneous copy number variant
analysis, the epilepsy study evaluated 2,267 patients and showed
panel testing provided a molecular diagnosis in up to 24% of
patients overall and had treatment implications for 21% of patients
with positive results. Using the same underlying methodology, a
similar study designated as a Reviewer's Choice abstract evaluated
more than 4,358 patients referred to Invitae for neurological and
neuromuscular genetic testing and showed panel testing provided
molecular diagnosis rates that ranged from 12% for dystonia to a
high of 64% for spinal muscular atrophy. Importantly, copy number
variant analysis enabled by Invitae's custom approach accounted for
a significant portion of the positive findings in both studies (up
to 40%).
Use of virtual panels to evaluate secondary findings
yields actionable information
In another platform presentation at the meeting, researchers
from the company are presenting an analysis of the frequency of
actionable variants in hereditary cancer genes found in more than
3,000 patients referred for testing for hereditary cardiovascular
disorders. Under an IRB-approved protocol that allowed review of
de-identified test data, the researchers analyzed a "virtual panel"
of hereditary cancer genes in this set of patients. Because these
patients had no known indication for hereditary cancer gene
testing, the study was designed to model the results that would be
seen if the patients were screened for actionable secondary
variants. The researchers found that six percent of patients had
pathogenic or likely pathogenic variants in hereditary cancer genes
with commonly accepted clinical management guidelines, a prevalence
rate higher than seen in previously published studies.
"Current ACMG guidelines on secondary findings indicate that
such information can be useful regardless of the original
indication for testing," said Dr. Nussbaum, one of the authors of
the study. "Our virtual study indicates that one in 16 individuals
could learn of actionable information from hereditary cancer gene
testing in the absence of the usual indication for such testing
based on personal or family history. Our pilot implementation of a
screening panel in real health care settings for both hereditary
cancer and cardiovascular disease indicates useful information may
be obtained for as many as 1 in 7 individuals undergoing such
testing. The data support the need for further studies of the
utility and impact of genetic screening for actionable variants as
part of a health maintenance program. As this approach to genetic
screening is still in its infancy, we are actively educating
providers and collecting follow-up information from both patients
and providers as to the utility of this information on health
care."
Full research presentation schedule
The full schedule of the Invitae researchers' presentations at
the meeting is as follows:
Wednesday, October 18:
- Poster #445: Validation of a novel copy number variant
detection algorithm for CFTR from targeted next-generation
sequencing data | Presented by Katya
Kosheleva, PhD, Good Start Genetics | 2:00 pm ET
- Poster #601: Improving variant classification by incorporating
pre-curated gene-specific knowledge into hereditary cancer
multi-gene panel testing | Presented by Hio
Chung Kang, PhD, Invitae | 2:00 pm
ET
- Reviewer's Choice Abstract | Poster #2371: Paperwork
matters! The importance of clinical phenotype information in
variant interpretation | Presented by Michael Anderson, PhD, Invitae | 2:00 pm ET
- Poster #2461: Copy number analysis using next-generation
sequencing: Comprehensive genetic testing and its application to
neuromuscular and epilepsy panels | Presented by Ali Entezam, PhD, Invitae | 2:00 pm ET
- Reviewer's Choice Abstract | Poster #2440: Novel
pathogenic variants are routinely detected even in
extensively-sequenced genes, such as CFTR | Presented by
Nicole Faulkner, PhD, FACMG, Good
Start Genetics | 3:00 pm ET
- Poster #2584: New systematic rubric for clinical interpretation
of copy number variants (CNVs) improves interpretation consistency
across laboratories | Presented by Daniel
Pineda-Alvarez, MD, FACMG, Invitae | 3:00 pm ET
- Poster #1540 | Streamlined, efficient, and uniform molecular
inversion probe capture for targeted sequencing | Presented by
Eric Boyden, PhD, Good Start
Genetics | 3:00 pm ET
Thursday, October 19:
- Presentation #130: Secondary findings after virtual panels: A
new frontier in incidental findings | Presented by Edward Esplin, MD, PhD, FACMG, FACP, Invitae |
10:15 am ET
- Poster #491: Targeted next generation sequencing-based
preimplantation genetic screening can enable detection of
uniparental isodisomy, familial relationships, and polyploidy |
Presented by Mark Umbarger, PhD,
Good Start Genetics | 2:00 pm ET
- Poster #2870: Tracing the dark matter: Prevalence of copy
number variants across Mendelian disorders | Presented by
Rebecca Truty, Invitae |
3:00 pm ET
Friday, October 20:
- Presentation #222: Genetic screening for healthy individuals:
Preliminary results from a medically actionable genetic screening
panel | Presented by Eden
Haverfield, PhD, FACMG, Invitae | 9:15 am ET
- Presentation #230: An interlaboratory study of complex variant
detection in clinical testing | Presented by Stephen Lincoln, Invitae | 9:15 am ET
- Reviewer's Choice Abstract | Poster #2463: Diagnostic
yield for neurological and neuromuscular disorder testing via
high-depth multi-gene panel analysis with integrated sequence and
copy number detection | Presented by Tom
Winder, PhD, FACMG, Invitae | 11:30
am ET
- Poster #978: High-depth multi-gene panel analysis with
integrated sequence and copy number detection is a useful
first-tier test with a high diagnostic yield and broad mutation
spectrum detection in childhood epilepsy | Presented by
Nila Patil, PhD, Invitae |
12:30 pm ET
- Poster #2617: Predisposition genetic screening for actionable
cardiovascular conditions in patients undergoing heritable cancer
syndrome testing: Prevalence of pathogenic variants in 10,812
individuals | Presented by Shan
Yang, PhD, Invitae | 2:00 pm
ET
Additional information on the ASHG Annual Meeting is available
at www.ashg.org/2017meeting.
About Invitae
Invitae Corporation (NYSE: NVTA) is one
of the fastest growing genetic information companies in
the United States. Invitae
Corporation's mission is to bring comprehensive genetic information
into mainstream medical practice to improve the quality of
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 our website at invitae.com.
Safe Harbor Statements
This press release contains
forward-looking statements within the meaning of the Private
Securities Litigation Reform Act of 1995, including statements
relating to research that highlights the utility of evaluating both
genetic variants and copy number variants on a single testing
platform to help clinicians more quickly diagnose patients;
and the ability of expertly curated, disease-specific panels to be
a more rapid, cost-effective first step for diagnosis that can be
used before exome testing when diagnosing epilepsy and
neuromuscular disorders; that well-designed testing and innovative
techniques can help shorten the often lengthy process of
elimination that can accompany diagnosing genetic disease; and that
genetic screening may yield actionable information in the absence
of the usual indication for such testing based on personal or
family history. 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: risks associated with the company's ability
to use rapidly changing genetic data to interpret test results
accurately and consistently; laws and regulations applicable to the
company's business; the company's history of losses; the company's
ability to compete; 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 Quarterly Report on Form 10-Q for
the quarter ended June 30, 2017.
These forward-looking statements speak only as of the date hereof,
and Invitae Corporation disclaims any obligation to update these
forward-looking statements.
NOTE: Invitae and the Invitae logo are trademarks of Invitae
Corporation. All other trademarks and service marks are the
property of their respective owners.
Contact:
Laura D'Angelo
pr@invitae.com
314-920-0617
View original content with
multimedia:http://www.prnewswire.com/news-releases/invitae-data-shows-increased-diagnosis-rates-with-custom-ngs-technique-allowing-simultaneous-genetic-sequencing-and-copy-number-variant-detection-300537617.html
SOURCE Invitae Corporation