– 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
About Invitae
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.
To learn more, visit invitae.com and follow for
updates on Twitter, Instagram,
Facebook and LinkedIn @Invitae.
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.
Invitae PR contact:
Renee Kelley
pr@invitae.com
(628) 213-3283
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