– Findings set to enhance patient care and reduce
uncertainty in test results as clinicians advance precision
healthcare for hereditary disease –
SAN
FRANCISCO, Oct. 25, 2023 /PRNewswire/
-- Invitae (NYSE: NVTA), a leading medical genetics
company, today announced findings from the largest study to
date on uncertain results from hereditary disease genetic testing.
Published in JAMA Network Open, the study evaluated data
from more than 1.6 million individuals undergoing multi-gene panel
testing across various clinical specialty areas. This study shares
with the medical genetics community a dataset that broadly shows
the prevalence and attributes of DNA variants of uncertain
significance (VUS) and the approaches that help with reclassifying
these variants into definitive results. These results underscore
the need for detailed clinical information and results from
appropriate family studies to facilitate proper
interpretation..
"Uncertainty in genetic testing is frustrating for patients,
clinicians and laboratories alike. Variants of uncertain
significance are not actionable and are often reported from
multi-gene panels, exome or genome sequencing, and other genetic
tests," said Swaroop Aradhya, Ph.D.,
FACMG, senior study author and chief of global medical affairs at
Invitae. "This study illustrates the VUS burden in hereditary
disease genetic testing across clinical areas, and provides
clinicians with useful observations that can inform how they
educate, set expectations and manage the care of their patients.
This becomes particularly important as genetic testing is
increasingly incorporated into professional practice guidelines in
medical specialties beyond clinical genetics. Invitae has
demonstrated leadership in clinical variant interpretation over the
last decade and continues to innovate relentlessly to further
advance this science and reduce VUS so that more patients can
receive conclusive results."
The study, titled "Rates and Classification of Variants of
Uncertain Significance in Hereditary Disease Genetic Testing,"
found that 41% of its more than 1.6 million participants had at
least one VUS. When larger gene panels were ordered, especially
those intended for diagnosing rare diseases, the likelihood of
identifying a VUS increased. As expected, the VUS rate went up as
increasing numbers of genes were tested.
A notable finding in this study was that the prevalence of VUSs
differs based on race, ethnicity and ancestry (REA), as well as by
age group and clinical area. For example, Ashkenazi Jewish and
White individuals had the lowest number of observed VUS per
individual, while Pacific Islander and Asian individuals had the
highest. Therefore, expansion of the data used for variant
interpretation to populations across the globe are needed to reduce
uncertain results for historically underrepresented populations and
make genetic testing equitable. In that respect, Dr. Saumya Jamuar Shekhar, M.D., clinical
geneticist, KK Women's and Children's Hospital and director,
SingHealth Duke-NUS Institute of Precision Medicine in Singapore and a co-author on this study,
stated "This publication highlights an important need to improve
variant interpretation for populations whose genomes are less
understood, such as those in southeast Asia and other regions. As Singapore increasingly invests in genomic
medicine to improve healthcare for its citizens, it is critical
that we have the means to accurately interpret DNA variants in this
population."
Uncertainty regarding a variant's clinical classification can be
resolved over time when more evidence becomes available. Over the
course of this study's eight-year span, a large number of VUSs were
reclassified, impacting more than 160,000 individuals who had been
referred for genetic testing at Invitae. Of those VUSs, 1 in 5 were
resolved to clinically significant classifications, as defined in
guidelines by the American College of Medical Genetics and
Genomics. Clinical evidence, including detailed clinical
information for the patient and results from family studies,
contributed the most to VUS reclassifications. There is a critical
need for clinicians to partner closely with laboratories to ensure
that detailed clinical information is available for variant
classification and follow up family testing is performed whenever
appropriate.
Invitae has already performed genetic testing for more than 4
million individuals, and as millions more in the future are
referred for genetic testing for diagnosis, screening, or research,
it is imperative that sophisticated methods are developed to
generate evidence that can help classify DNA variants definitively.
Data from this study point to the utility of evidence from
computational methods and from clinical evidence, both of which
need to be gathered more broadly and consistently. As presented at
various national conferences, Invitae has invested heavily in
developing state-of-the-art machine learning methods to produce
reliable evidence for variant classification that has already
contributed to reducing uncertainty in results for more than
300,000 individuals referred for genetic testing at
Invitae.
For more information about genetic testing, visit
Invitae.
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 company's beliefs regarding its study results; and
the company's belief that the results are set to enhance patient
care and reduce uncertainty in test results as clinicians advance
precision healthcare for hereditary disease. 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 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 Quarterly Report on Form 10-Q for
the quarter ended June 30, 2023.
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
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SOURCE Invitae Corporation