SAN FRANCISCO, Dec. 10, 2018 /PRNewswire/ -- Current
guidelines for genetic testing of breast cancer patients miss as
many patients with pathogenic variants (or genetic mutations) as
they find, according to a new study published in the Journal of
Clinical Oncology by researchers from the TME Breast Care Network,
a network of more than 300 leading breast cancer physicians and
Invitae (NYSE: NVTA), one of the fastest growing genetics
companies. The findings support broadening and simplifying current
guidelines to ensure all breast cancer patients have access to
genetic information to guide their breast cancer care, potential
screening for other cancers, and inform their family's health.
"Our study shows current genetic testing guidelines for breast
cancer patients exclude patients with clinically important genetic
changes that impact their health," said Peter Beitsch, MD, co-founder of the TME Breast
Care Network, and corresponding author on the study. "These
guidelines were established nearly 20 years ago to identify only
patients with the highest likelihood of carrying variants in just
two specific genes, BRCA1 and BRCA2. Since then, our
understanding regarding the importance of non-BRCA genes has
grown, and the cost of genetic testing has plummeted. Today, the
data supports one clear guideline -- all breast cancer patients
should receive genetic testing."
The IRB-approved multicenter prospective registry used in the
study included 20 breast cancer treatment centers experienced in
cancer genetic risk assessment and management. Patients were
eligible to participate if they were at least 18 years old, carried
a personal diagnosis of breast cancer, were either currently being
treated or previously treated, and had not previously undergone
either single or multi-gene germline testing. The study included
two equal cohorts: patients who met well-known and widely used
genetic testing guidelines and those who did not. All patients
underwent germline genetic testing with Invitae's 80-gene,
multi-cancer panel.
Results showed that 83 of 959 patients (8.65%) of patients
tested had a pathogenic or likely pathogenic (P/LP) genetic
variant. Within each cohort, 9.39% (45/479) who met testing
guidelines and 7.9% (38/480) patients who did not meet guidelines
had a P/LP variant. The difference between the two groups was not
statistically significant (p = 0.4241). Among the group of
patients with P/LP variants who did not meet testing guidelines,
76% had variants in genes for which there are established clinical
management recommendations. Additionally, 56% were potentially
eligible for precision therapeutic clinical trials.
"Genetic testing guidelines, as they currently exist, are both
outdated and unnecessarily complicated, and serve to restrict
access to testing. This study supports simplifying the guidelines
to one clear standard – all breast cancer patients should receive
genetic testing that is of high quality, designed for clinical use,
and includes all genes for which there are medically actionable
recommendations," said Robert
Nussbaum, MD, chief medical officer of Invitae. "Making
testing universal for breast cancer patients would give much-needed
information to patients, their physicians, and their families. For
patients, genetic information can guide treatment choices and
clinical trials. For family members, genetic information can help
prevent additional cancers through cascade testing and appropriate
prevention and surveillance strategies."
Approximately 330,000 patients are diagnosed with breast cancer
every year in the United States.
An estimated 10% of these cancers are likely due to hereditary
causes. Yet, studies have estimated that less than 10% of all
BRCA1 and BRCA2 carriers have been identified.
Moreover, 50–80% of individuals at risk have not received genetic
testing, in part because they do not meet the family history
criteria of current testing guidelines and may lack insurance
coverage for testing.
About Invitae
Invitae Corporation (NYSE: NVTA) is one
of the fastest growing genetics companies in the United States. Invitae's 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 our website at invitae.com.
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 that all breast cancer patients should receive high
quality genetic testing; that making testing universal for breast
cancer patients would give much-needed information to patients,
their physicians, and their families; and that genetic information
can guide patients' treatment choices and clinical trials and help
family members prevent additional cancers through cascade testing
and appropriate prevention and surveillance strategies.
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 September 30, 2018. These forward-looking
statements speak only as of the date hereof, and Invitae
Corporation disclaims any obligation to update these
forward-looking statements.
Contact:
Laura D'Angelo
pr@invitae.com
(628) 213-3283
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