SALT LAKE CITY, Nov. 5, 2019 /PRNewswire/ -- Researchers
from Invitae Corporation (NYSE: NVTA), a leading medical
genetics company, are presenting research this week at the National
Society of Genetic Counselors (NSGC) 37th Annual Conference in
Atlanta that helps push forward
the science and practice of genetics in patient care. In addition
to its research presentations, the company is supporting the Code
Talker award, which recognizes excellence in the field of genetic
counseling.
The company's wide-ranging research presentations, which include
plenary, platform and poster presentations, add to both the science
and practice of the fast-growing field of medical genetics. Among
the company's presentations are studies highlighting the potential
of genetic testing to increase early diagnosis of pediatric
epilepsy, along with presentations underscoring the importance of
high quality medical genetic testing and genetic counseling
services as consumer use of genetic health screening continues to
grow. In addition to addressing current issues in clinical care,
the company presented new research examining the frequency of
mosaic and copy number variant findings in a large dataset and an
approach to gene curation designed to enable objective,
high-quality genetic variant interpretation at scale.
"The NSGC annual meeting is an important opportunity to look
deeply at both the science and practice of genetic medicine to
improve clinicians' ability to leverage genetic information to
benefit patients' healthcare," said Robert
Nussbaum, M.D., chief medical officer of Invitae. "Genetic
counselors play an essential role in navigating new advances on
behalf of patients. We are proud and grateful to be able to join
our colleagues in collaborations that move genetic medicine forward
while we honor practitioners that exemplify excellence in patient
care."
Code Talker Award Honors Excellence in Genetic
Counseling
In addition to the research presentations at the meeting,
Invitae and NSGC will present the 4th annual Code Talker award in a
ceremony at the NSGC Annual Conference. The Code Talker award was
established to honor excellence in genetic counseling patient care
as recognized by patients themselves. Nominations include stories
from patients that highlight both the clinical and personal impact
a genetic counselor had on their lives and the lives of their
families. This year's ceremony honors the following three
finalists:
- Gayun Chan-Smutko, MS, CGC, MGH Institute of Health Professions
in Boston, Massachusetts, was
nominated by a woman whose family was deeply impacted by
genetic-related conditions. She and her sister are both breast
cancer "previvors," her child was diagnosed with retinoblastoma at
age two and another sister fought advanced breast cancer. Thanks to
Chan-Smutko's support and guidance through treatment and aggressive
screening protocols, the family is thriving.
- Lauren Hogan, MS, CGC, Beth
Israel Deaconess Medical Center in Boston, Massachusetts, was nominated for
providing empowerment, validation and support to a young woman with
a deep family history of cancer. Hogan guided her through genetic
screening for hereditary breast and ovarian cancer risk, and
through that process helped ignite her essayist's passion for
genetic counseling.
- Elizabeth Varga, MS, LGC,
Nationwide Children's Hospital of Columbus, Ohio, was nominated by the mother of
two boys with a rare genetic variant that causes a predisposition
to blood cancers. Varga guided the family through testing, helped
them understand their risks and provides ongoing support for the
family as they manage the boys' health.
The Code Talker Award will be presented on Thursday, November 7th.
Full presentation schedule
The full schedule of the Invitae presentations at the meeting is
as follows:
Tuesday, November 5
- Poster A-124. Tumor-only genetic testing as an indication for
dedicated germline testing: An analysis of current practices. |
Presented by collaborator: Aime
Blanco, MS, CGC, UCSF. | 5:45 - 7:00
pm MT
- Poster A-259. Curating the human genome in an objective and
scalable process to ensure accurate clinical interpretation and
reporting. | Presented by: Jackie
Tahiliani, MS, LCGC, Invitae. | 5:45
- 7:00 pm MT
- Poster A-340. Carrier screening in 2019: Expanded panels are on
the rise. | Dana Neitzel, MS, CGC,
Invitae. | 5:45 - 7:00 pm MT
Wednesday, November 6
- Poster B-125. Expanded germline panels across cancer-types:
Diagnostic yield and clinical actionability in a 100,000 patient
dataset. | Presented by: Barbara
Hamlington, MS, CGC, Invitae. | 6:15
- 7:30 pm MT
- Poster B-128. EGFR-associated hereditary lung cancer syndrome:
Analysis of EGFR T790M mutation carriers among patients undergoing
hereditary genetic testing. | Presented by: Darcy Berry, MS, CGC, Moffitt Cancer Center. |
6:15 - 7:30 pm MT
- Poster B-263. Expanding patient data sharing: GenomeConnect's
pilot to engage external registries in data sharing. | Presented by
collaborator: Juliann Savatt, MS,
LGC, Geisinger. | 6:15 - 7:30 pm
MT
Thursday, November 7
- Plenary - Best Full Member Abstract Award. Clinical
false-negative rate of direct-to-consumer genetic screening for
familial hypercholesterolemia. | Presented by: Sienna Aguilar, MS,
CGC, Invitae. | 5:50 - 6:05 pm
MT
- Educational breakout session (C-16). The new GC in town:
Demystifying the role of gene curation for laboratory and clinical
genetic counselors. | Presented by Jackie
Tahiliani, MS, LCGC, Invitae. | 3:10
- 4:40 pm MT
- Poster C-255. Next-generation sequencing with copy number
analysis for primary immunodeficiencies: Findings from a cohort of
over 3,900 unrelated patients. | Presented by: Jessica Connor, MS, CGC, Invitae. | 1:20 - 2:35 pm MT
- Poster C-291. Behind the Seizure: Enabling early molecular
diagnosis for children with epilepsy. | Presented by: Hannah White, MS, LCGC, Invitae. | 1:20 - 2:35 pm MT
Friday, November 8
- Educational breakout session (D-04). The emerging roles of
genetic counselors as consumers embrace healthy genomic screening.
| Presented by: Sienna Aguilar, MS, CGC, Invitae. | 7:00 - 7:45 am MT
- Platform presentation. Mosaic sequence and copy number variants
in a large clinical genetic testing cohort. | Presented by:
Daniel Pineda-Alvarez, MD, FACMG,
Invitae. | 12:45 - 1:00 pm MT
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 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 benefits and impact of the company's research and
collaborations; the potential and importance of genetic testing and
genetic counseling services; and the impact of the science and
practice of genetic medicine on clinicians' ability to use genetic
information to benefit patients. 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 Quarterly Report on Form 10-Q for the
quarter ended June 30, 2019. 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