SAN FRANCISCO, March 14, 2017 /PRNewswire/
-- Invitae Corporation (NYSE: NVTA), one of the fastest
growing genetic information companies, today announced it will be
presenting seventeen posters and presentations at the 2017 American
College of Medical Genetics (ACMG) Annual Clinical Genetics Meeting
in Phoenix.
"Scientific understanding of genetic medicine continues to
expand rapidly, making sessions such as the ACMG meeting essential
for the genetics community," said Robert
Nussbaum, MD, chief medical officer of Invitae. "The
research we will be presenting at ACMG this year has implications
for how genetic variants are identified and classified, as well as
for physicians' use of genetic information to treat patients with a
wide variety of conditions. By continually advancing science, we at
Invitae believe we can help more people benefit from the use of
genetic information to make informed health decisions."
Invitae's presence at the meeting includes two platform
presentations, one on the prevalence of copy number and structural
variants in Mendelian disorders and the other on the spectrum of
variants underlying multiple conditions based on a 30,000-patient
dataset. The company also has four posters designated as
"high-ranking," including research on the discordance between
germline sequencing and somatic tumor profiling; the co-occurrence
of pathogenic variants in Charcot-Marie-Tooth disease; innovative
methods to accurately identify a clinically important variant
associated with Lynch Syndrome; and an approach for incorporating
gene-specific functional information to improve variant
interpretation.
The full schedule of Invitae platform and poster presentations
is as follows:
Thursday, March 23,
8:00 a.m. – 12:00 p.m. Mountain Standard Time
- Platform Presentation #23: Tracing the Dark
Matter: Prevalence of Copy Number and Structural Variants Across
Mendelian Disorders | Presented by Rebecca
Truty, PhD, Invitae
- Poster #91: CNV Analysis of ACADM Enhances Yield
in the Molecular Diagnosis of Medium-chain acyl-CoA Dehydrogenase
Deficiency | Presented by Yuan-Yuan Ho, PhD, Invitae
- Poster #145: One of These Things is Not Like the
Other: Clinically Actionable Discordance Between Germline
Sequencing and Somatic Tumor Profiling | Presented by Edward Esplin, MD, PhD, Invitae
- Poster #337: Glycine Missense
Variants in the Triple Helix Domain of Collagens: Assessing
Functional Domain Data During Clinical Variant Interpretation |
Presented by Daniel Beltran, PhD,
Invitae
- Poster #575: Attitudes of Healthy Early Adopters
Toward Personal Genome Sequencing: Observations from the PeopleSeq
Consortium | Presented by Edward
Esplin, MD, PhD, Invitae
- Poster #711: Contiguous 2p16.3p21 Gene Deletion
Inclusive of EPCAM, MSH2, and MSH6 Identified with Next-Generation
Sequencing | Presented by Daniela
Iacoboni, MS, Invitae
- Poster #797: Potential of Predispositional
Genetic Screening for Dominant Actionable Disorders: Prevalence of
Genomic Variants in 16,000 Unaffected Individuals | Presented by
Edward Esplin, MD, PhD, Invitae
Friday, March 24, 10:30–5:45
p.m. Mountain Standard Time
- Platform Presentation #40: The Spectrum of
Pathogenic Variants Underlying Multiple Conditions in 30,000
Patients: Implications for Test Implementation, Utilization and
Validation | Presented by Steve
Lincoln, Invitae
- Poster #144: PMS2 Pseudogene and Disambiguation:
Technically Challenging, Clinically Critical | Presented by
Erin O'Leary, MS, Invitae
- Poster #224: Co-occurrence of Pathogenic Variants
in MPZ and LRSAM1 in Charcot-Marie-Tooth Disease:
Implications for Genetic Counseling for Multi-Gene Panel Testing |
Presented by Christopher Tan, MS,
Invitae
- Poster #358: Harmonizing Variant Interpretation
for Sequence and Copy Number Changes Within Individual Genes in
Clinical Diagnostic Testing | Presented by Ali Entezam, PhD, Invitae
- Poster #380: Molecular Diagnosis of Primary
Ciliary Dyskinesia: Experience from a Clinical Laboratory |
Presented by Michelle Zeman, PhD,
Invitae
- Poster #430: Detection of a Novel Complex
Rearrangement in KCNH2 with Next-Generation Sequencing in a
Clinical Laboratory | Presented by John
Garcia, PhD, Invitae
- Poster #592: Metabolic Pathognomonics:
Incorporating Disease-Specific Biochemical Data Improves Variant
Interpretation for Inherited Metabolic Disorders | Presented by
Rachel Harte, PhD, Invitae
- Poster #676: Leveraging Phenotype Ontologies to
Define the Specificity of Clinical Phenotypes to Inform Variant
Interpretation | Presented by Britt
Johnson, PhD, Invitae
- Poster #726: The Benefit of a Medically
Actionable Genetic Screening Panel in Healthy Individuals: A Case
Report | Presented by Eden
Haverfield, PhD, Invitae
- Poster #734: Genetic Information for Healthy
Individuals: Developing a Medically Actionable Genetic Screening
Panel | Presented by Eden
Haverfield, PhD, Invitae
For more detailed information, please visit
http://www.acmgmeeting.net/acmg2017/Public/mainhall.aspx?ID=2374&sortMenu=101000.
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. Additionally, the company
has created a Genome Network to connect patients, clinicians,
advocacy organizations, researchers, and drug developers to
accelerate the understanding, diagnosis, and treatment of
hereditary disease. 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 Company's research and its implications for how
genetic variants are identified and classified, as well as for
physicians' use of genetic information to treat patients; and the
Company's belief that by advancing science, it can help more people
benefit from the use of genetic information to make informed health
decisions. 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; 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 September 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.
Contact:
Laura D'Angelo
pr@invitae.com
314-920-0617
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SOURCE Invitae Corporation