Invitae Highlights Importance of Medical Genetics, Honors Excellence in Genetic Counseling at National Society of Genetic Counselors (NSGC) 38th Annual Conference

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Nov 05, 2019
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SALT LAKE CITY, Nov. 5, 2019 /PRNewswire/ -- Researchers fromInvitae 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

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.

Laura D'Angelo
[email protected]
(628) 213-3283

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