– New research looking at underrepresented racial, ethnic and ancestry groups underscores the importance of universal germline genetic testing –
SAN FRANCISCO, March 15, 2023 /PRNewswire/ -- Invitae (NYSE: NVTA), a leading medical genetics company, today announced seven studies, including one oral presentation and six posters, to be presented at the 2023 American Clinical Genetics Meeting held in Salt Lake City from March 14-18, 2023. The research reinforces the importance of universal genetic testing for patients with cancer, with much of the data highlighting the need for increased representation in clinical genetic testing data across racial, ethnic and ancestry groups that have long been underrepresented in genetic studies and databases. Such inclusion can uncover unique insights and expand the clinical validity of genetic testing to more populations, helping inform health journeys and potentially improving health outcomes. Invitae will also be highlighting powerful innovative technological advances that include multiplex assays of variant effects, machine learning and big data approaches to address current challenges in variant classification and promote reduction of variants of uncertain clinical significance (VUS).
Key data being presented at ACMG 2023 include several studies that underscore the importance of removing barriers to germline genetic testing, whether that means expanding NCCN guidelines to go beyond familial risk-associated gene variants, increasing testing rates, or utilizing new innovations in variant classification to help reduce VUS across racial and ethnic groups.
Diversifying clinical studies to reveal impact across various race, ethnicity and ancestry identities
One such study, conducted in collaboration with researchers from University of California, Davis, highlights the inconsistencies between clinician entries and patients' self-identified race, ethnicity and ancestry, particularly for non-White groups. The role of such inaccuracies for the implementation of precision medicine in minority groups is an area for further investigation. Another study compares and contrasts the rates of VUS in cancer predisposition genes in Black and White individuals. Although the rate of VUS-only results is higher in Black compared to White individuals, the number of unique VUS decreases at a higher rate in Black individuals over time.
"We look forward to presenting data at ACMG this year that is reflective of a more diverse patient population, and are committed to expanding these research efforts in the year ahead," said Robert Nussbaum, M.D., Invitae's chief medical officer. "We're continuing to explore race, ethnicity and ancestry implications to ensure clinical guidelines advance inclusivity and uncover clinically-actionable insights to support traditionally underrepresented groups."
Support for the expansion of clinical guidelines to support universal genetic testing for all patients
Several studies being presented at ACMG will highlight evidence around the benefits of genetic testing insights to advance testing as a standard of care for all patients. One particular study, conducted in collaboration with the City of Hope, analyzes the limitations of cascade testing for only the familial risk-associated gene variant, which is traditionally the course of action. Additionally, an oral presentation from David R. Wise, M.D., Ph.D., from New York University will explore how germline genetic testing has impacted clinical decisions for patients with prostate cancer, one of the most common cancers for American men.
"Each year, ACMG serves as a leading forum to present our findings to clinical geneticists who can change medical practice by making genetic testing part of the standard of care. We're thrilled to share more data this year to advance precision medicine for all," said Dr. Nussbaum.
The following is a guide to Invitae-affiliated presentations at ACMG 2023.
2023 ACMG presentations:
Oral presentation: Titled: Real world impact of germline genetic testing on clinical decision making for prostate cancer patients. Presenter: David R. Wise, M.D., Ph.D. – Wednesday, March 15, 4:00–4:15 pm MST
Poster ID: P537: Titled: Reliability of clinician entries of patient self-identified race, ethnicity, and ancestry in clinical genetic testing. Presenter: Alice Popejoy Ph.D. – Thursday, March 16, 10:30 am–12:00 pm MST
Poster ID: P277: Titled: Modeling Cellular Evidence: Scalable Approaches for Generating, Validating and Incorporating Data from High-Throughput Functional Assays to Improve Clinical Variant Interpretation. Presented by Jason A. Reuter, Ph.D. – Thursday, March 16, 10:30 am–12:00 pm MST
Poster ID: P490: Titled: The impact of machine learning algorithms in reducing VUS for individuals from underrepresented populations compared to well studied populations. Presented by Britt Johnson, Ph.D., FACMG. – Friday, March 17, 10:30 am–12:00 pm MST
Poster ID: P088: Titled: What's Trending: Comparing Variant of Uncertain Significance (VUS) Rates in Cancer Predisposition Genes Over Time in Black and White Individuals. Presented by Gail Tomlinson, M.D., Ph.D. – Friday, March 17, 10:30 am–12:00 pm MST
Poster ID: P058: Titled: Cascade testing with comprehensive multigene panels for hereditary cancer identifies unexpected findings in relatives. Presented by Brandie Heald, MS, CGC. – Friday, March 17, 10:30 am–12:00 pm MST
Poster ID: P244: Titled: Developing Probabilistic Graphical Models for Improved Variant Interpretation. Presented by Toby Manders, M.D. – Friday, March 17, 10:30 am–12:00 pm MST
Invitae (NYSE: NVTA) is a leading medical genetics company trusted by millions of patients and their providers to deliver timely genetic information using digital technology. We aim to provide accurate and actionable answers to strengthen medical decision-making for individuals and their families. Invitae's genetics experts apply a rigorous approach to data and research, serving as the foundation of their mission to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people.
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 benefits and impact of the company's research; the importance of universal genetic testing for patients with cancer; the potential benefits of increased representation in clinical genetic testing data; the importance of certain technological advances; the importance of removing barriers to genetic testing; the company's research efforts with respect to traditionally underrepresented groups; and the company belief that its data has the potential to advance precision medicine for all. 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 impact of inflation and the current economic environment on the company's business; the company's ability to grow its business in a cost-efficient manner; the company's history of losses; the company's ability to maintain important customer relationships; the company's ability to compete; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the risk that the company may not obtain or maintain sufficient levels of reimbursement for its tests; the applicability of clinical results to actual outcomes; risks associated with litigation; 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 Annual Report on Form 10-K for the year ended December 31, 2022. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.
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