Invitae Announces Multiple Scientific Presentations & Posters to Be Presented at the American Society of Human Genetics 2016 ...
October 19 2016 - 7:00AM
Business Wire
-- 14 posters and presentations to focus on
advances in genetic testing technology and medical interpretation
tools as well as new applications of genetics in health and
wellness --
This week Invitae Corporation (NYSE: NVTA), a genetic
information company, is presenting multiple abstracts at the
American Society of Human Genetics (ASHG) 2016 Annual Meeting in
Vancouver, covering an array of topics in genetics, including
advances in complex variant detection and medical interpretation,
as well as survey data exploring the attitudes of healthy adults
seeking genetic testing through their physicians and the frequency
with which medical guidance accompanies the results.
“The use of genetic information to better understand and
diagnose disease and to guide treatment choices expands
significantly each year,” said Robert Nussbaum, MD, chief medical
officer of Invitae. “The research presented at this year’s ASHG
meeting moves us another step forward in our scientific knowledge
and understanding of how individuals and their physicians think
about genetic testing and its utility. Invitae is steadfast in our
commitment to provide high quality genetic information to our
physicians and patients, and by leading with science, we believe we
can help individuals and their physicians make informed health
decisions based on their genetic information.”
Among Invitae’s ASHG presentations:
- Invitae is describing data on over
30,000 clinical cases across a range of indications, showing that
the genetic variants most challenging to detect technically are
prevalent among patients receiving clinical genetic testing. It is
important for sequencing labs to resolve the issue of “hard-to-do”
variants – and to publish validation studies on these variants –
because tests which do not adequately address these types of
variants will have a significant false negative rate. In
collaboration with Harvard Medical School, the National Institute
of Standards and Technology, and others, Invitae has worked to
develop improved reference standards that can allow genetic tests
to be properly benchmarked in terms of their ability to accurately
detect these challenging but important types of genetic variants
(Poster #936F).
- For well-understood hereditary diseases
featuring a specific phenotype (presentation), there is a
relatively high prior probability that a known pathogenic
variant(s) will be detected if the appropriate genes have been
sequenced. Furthermore, including the presence of a unique
phenotype can provide a powerful line of evidence for variant
classification when multiple variants are identified, and can help
reduce the number of variant of unknown significance results.
Invitae has established a systematic approach for integrating
unique phenotypic data into variant interpretation that is based on
the ACMG guidelines (Poster #1032F).
- Among the most important aspects of
genetic testing is ensuring that information provided to patients
and clinicians is relevant and useful for guiding decision-making.
Invitae has created a framework for categorizing gene/condition
relationships, thereby establishing a method to distinguish between
genes proven to cause a condition and genes for which only
preliminary evidence suggests an association. Understanding the
rationale for a gene’s inclusion on a testing panel is critical for
clinicians, and the clinical utility of the findings in any gene
ultimately depends on the strength of the evidence linking that
gene to disease (Poster #834F).
- With growing opportunities for healthy
adults to access genetic testing directly, the PeopleSeq Consortium
(a collaboration with multiple academic centers to track outcomes
associated with the sequencing of ostensibly healthy individuals)
surveyed individuals who have undergone personal genome sequencing
(PGS) to understand what prompted these early adopters to pursue
genetic screening. The data show healthy adults may be quick to
make decisions to pursue PGS and may do so with limited medical
consultation. The survey found that most people made the decision
to pursue PGS quickly (one day or less). Although the most-reported
reason for testing was determining personal risk of disease and a
physician order was required for PGS, only a fraction of
respondents reported talking with their primary care provider about
whether or not to pursue PGS, which may have important implications
for providing education on genetic information as more and more
healthy adults seek PGS to understand personal disease risk (Poster
#3108F).
The full schedule of Invitae posters and presentations is as
follows:
Wednesday, October 19, 2:00-4:00 pm
- Accurate detection of copy-number
changes in the highly conserved regions of PMS2 using NGS | Poster
#775W | Presented by Vince Ramey, Invitae
- Variant classifications are highly
concordant in ClinVar, but with variability in genes from different
disease areas | Poster #976W | Presented by Shan Yang, Invitae
- PseudoSlayer: Clinical-grade variant
identification within segmental duplications using NGS data |
Poster #1006W | Presented by Dan Kvitek, Invitae
- Creating a medically actionable genetic
screening panel for healthy individuals | Poster #3031W | Presented
by Ed Esplin, Invitae
Thursday, October 20, 2:00-4:00 pm
- What do public databases really tell us
about classification of variants in BRCA1 and BRCA2? | Poster #773T
| Presented by Robert Nussbaum, Invitae
- Glycine missense variants in the COL3A1
triple helix domain: How to assess functional domain data during
clinical variant interpretation | Poster #791T | Presented by
Daniel Beltran, Invitae
- Mammalian species conservation data and
the implication for clinical variant classification | Poster #2858T
| Presented by Paige Taylor, Invitae
- Germline hemizygous deletion of
CDKN2A-CDKN2B locus in a patient presenting with Li-Fraumeni
syndrome | Poster #2681T | Presented by Sock Hoai Chan, National
Cancer Center Singapore
Friday, October 21, 2:00-4:00 pm
- Evaluating the strength of evidence for
gene/condition relationships: Impact on multi-gene panel testing
design | Poster #834F | Presented by Chris Tan, Invitae
- Lions and tigers and bears, oh my!
Technically challenging variants are prevalent and require new
approaches to NGS test development and validation | Poster #936F |
Presented by Steve Lincoln, Invitae
- “SMRTer Confirmation”: Scalable
clinical read-through variant confirmation using the Pacific
Biosciences SMRT® Sequencing Platform | Poster #996F | Presented by
Sarah McCalmon, Invitae
- “Phenotypes of Distinction”: When and
how to integrate unique phenotypic information into variant
interpretation | Poster #1032F | Presented by Britt Johnson,
Invitae
- Molecular follow-up of a newborn
screening (NBS)-positive case of medium-chain acyl-coenzyme A
dehydrogenase deficiency (MCADD) identified two ACADM variants: Are
they clinically pathogenic? | Poster #2286F | Presented by
Yuan-Yuan Ho, Invitae
- Attitudes regarding personal genome
sequencing among healthy early adopters: Findings from the
PeopleSeq Consortium | Poster #3108F | Presented by Ed Esplin,
Invitae
For additional information on Invitae’s presence at ASHG, please
visit https://www.invitae.com/ashg2016/.
About Invitae
Invitae Corporation's (NYSE: NVTA) 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 most of the world’s genetic tests
into a single service with higher quality, faster turnaround time,
and lower price than many single-gene and panel tests today. The
company currently provides a diagnostic service comprising hundreds
of genes for a variety of genetic disorders associated with
oncology, cardiology, neurology, pediatrics, and other rare disease
areas. 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 the use of research and the
company’s ability to help individuals and their physicians make
informed health decisions based on their genetic information, the
company’s belief that the use of genetic information to guide
treatment expands significantly each year, the utility of genetic
testing and its impact on diagnoses and patient outcomes, and the
applicability and utility of the research studies to diagnoses and
patient outcomes. 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; the company’s ability to
develop tests to keep pace with rapidly changing technology and new
and increasing amounts of scientific data; laws and regulations
applicable to the company’s business, including potential
regulation by the Food and Drug Administration; the company’s
ability to develop and commercialize new tests and expand into new
markets; 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, 2016. 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.
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Invitae CorporationLaura D’Angelo,
314-920-0617pr@invitae.com
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