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October 28, 2022

Invitae to Present Data at the American Society of Human Genetics Annual Meeting Furthering the Understanding of Variants of Uncertain Significance in Underrepresented Populations

– Presentations provide additional insights into the critical importance of advancing equity in genomics –

SAN FRANCISCO, Oct. 28, 2022 /PRNewswire/ -- Invitae (NYSE: NVTA), a leading medical genetics company, will present data from its genetic testing portfolio at the American Society of Human Genetics Annual Meeting taking place in Los Angeles, Calif., October 25-29, 2022. Researchers from Invitae will highlight the importance of monitoring and addressing variants of uncertain significance (VUS) when it comes to underrepresented populations and the implications about how broadening access and participation in genomics research is paramount to addressing health inequities. 

The company's research includes two platform presentations and one CoLab session co-presented with partner Illumina discussing the barriers and solutions to expanding access to genetic testing and research. Among the data being presented is a study sharing a deeper understanding of the variants of uncertain significance (VUS) reporting landscape and offering best practices for labs and clinicians to determine clearly defined actions that clinicians and patients can consider when VUS are reported. 

Variants of uncertain significance have been a challenging topic for both clinicians and laboratories, as there is confusion and inconsistency about how they are reported and what follow up is needed to resolve the significance. This is further complicated with questions about the overall utility of existing population data given that there are limited data sets that include underrepresented populations. The study analyzed data from more than 2 million individuals, with ~22% from underrepresented populations, individuals with self-reported Black/African American, Asian or Hispanic ancestries, and illuminates trends across clinical areas, different gene panel sizes, variant types and differences associated with reported race and ethnicity. 

"We are proud to be sharing research at this year's ASHG meeting that brings attention to the existing barriers to access and inequity in genomics," said Dee McKnight, Medical Affairs director, Invitae. "This data showcases how through our monitoring and analyses of VUS, we are better able to evaluate the impact of these variants with the goal of reducing health disparities. Our commitment to addressing these challenges and partnering with industry and research partners that recognize the importance of improving equity in our field is a first step to advancing the role of genetic testing in mainstream medicine."

The following research will be presented by the company and collaborators at the annual meeting:

Wednesday, October 26:

Poster Presentation # PB2256] 3 – 4:45 pm (Pacific): "A variant interpretation framework based on probabilistic graphical modeling that provides continuous high-resolution estimates of variant pathogenicity with improved interpretation accuracy over current discrete five-category frameworks." Presented by Robert Nussbaum, MD FACMG, chief medical officer, Invitae.

Thursday, October 27:

Platform Presentation #310 | 2:15 – 2:30 pm (Pacific), West Hall A
Integrated DNA and RNA analysis of hereditary cancer associated genes: More answers for more patients. Presented by: Keith Nykamp, PhD, scientific director, Invitae

Friday, October 28:

Invited Session #367 | 8:30 – 10:00 am (Pacific), Concourse Hall, E/West Building; To report or not to report: The quandary of variants of uncertain significance (VUSs)
The landscape of VUSs in a large clinical cohort undergoing molecular testing for hereditary disease. Presented by: Dianalee McKnight, PhD, FACMG, Medical Affairs director, Invitae

CoLab Session | 1:00 – 1:30 pm (Pacific), Hall/CoLab 2
Industry Solutions - CoLab Session Presented by ASHG Impact Partners: Broadening access to and participation in genetic testing and research: a discussion about barriers and potential solutions. Presented by: Dianalee McKnight, PhD, FACMG, Medical Affairs director, Invitae and Janina M. Jeff, PhD, MS, staff bioinformatics scientist (microarrays), Illumina

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 Statement
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the importance of monitoring and addressing VUS when it comes to underrepresented populations and the implications about how broadening access and participation in genomics research is paramount to addressing health inequities. 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, 2022. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Invitae PR contact: 
Renee Kelley 
(628) 213-3283

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