SAN FRANCISCO, Nov. 19, 2020 /CNW/ -- Invitae (NYSE: NVTA), a
leading medical genetics company, today presented study findings
that show nine percent of patients with pancreatic cancer had
genetic changes in DNA damage repair (DDR) genes that would make
them eligible for PARP inhibitor therapy or clinical treatment
trials. Despite professional guidelines that recommend testing for
all pancreatic cancer patients, it remains underutilized in routine
care. The study was presented at the National Society of Genetic
Counselors 39th Annual Conference.
![Invitae's (NVTA) mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. www.invitae.com (PRNewsFoto/Invitae Corporation) Invitae's (NVTA) mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. www.invitae.com (PRNewsFoto/Invitae Corporation)](https://mma.prnewswire.com/media/268592/invitae_corporation_logo.jpg)
"New therapeutics have recently become available to treat
pancreatic cancer for patients with certain changes in genes such
as BRCA1 and BRCA2. Yet despite the availability of
these treatments and professional guidelines recommending testing,
utilization is still lagging," said Robert
Nussbaum, M.D., chief medical officer of Invitae and study
author. "Pathogenic variants in these genes are associated with an
increased risk of other cancers as well, such as breast, ovarian
and prostate cancer, which means that a failure to test patients
with pancreatic cancer impacts not only their treatment, but also
the health of their families."
Importantly, the study of over 2,000 patients found that 15% of
patients with actionable genetic changes reported no family history
of cancer, which underscores the limitations of using testing
criteria based on reported family history. National
Comprehensive Cancer Network (NCCN) guidelines recommend genetic
counseling and germline genetic testing for everyone diagnosed with
pancreatic cancer as well as their first degree relatives --
approximately 3.5 million individuals in the United States.
In addition to evaluating the clinical relevance of genetic
testing results, the study offered sponsored, no-charge testing to
patients to evaluate the role of cost as a barrier to testing.
Researchers found a small but significant increase (2%) in testing
among African-American patients compared to typical rates among
patients using health insurance, suggesting reducing cost may
increase access to testing among this population.
The research was presented at the virtual annual meeting of the
National Society of Genetic Counselors. The full research
presentation from Invitae included:
Oral platform presentations:
- Increasing access for patients with pancreatic cancer to
germline genetic testing: Clinical impacts across disease stage and
ethnicity. Presented by Ed Esplin,
MD, PhD, FACMG, FACP
- Evaluating variant reclassification in reproductive carrier
screening. Presented by Julia
Wilkinson, MS, LCGC
Poster presentations:
- Utility of adding phenotypic criteria refinement to ACMG
guidelines. Presented by Lauren
Frank, MS, CGC
- Comprehensive germline multigene panels change clinical care
and inform treatment strategies for breast cancer patients.
Presented by Sarah Nielsen, MS,
LCGC
- Carrier screening for X-linked conditions is common practice.
Presented by Dana Neitzel, MS,
CGC
In addition to its scientific presence, Invitae will again
partner with NSGC to present the Heart of Genetic Counseling award,
which honors excellence in genetic counseling and patient care as
recognized by patients. Nominations include stories from patients
that highlight both the clinical and personal impact a genetic
counselor had on their lives and the lives of their families. This
year's award will be presented during a virtual ceremony on
Thursday, November 17th. The
finalists include:
- Rachelle Manookian, MS, LCGC,
City of Hope in Duarte, CA, was
nominated by a man who had been searching for answers about the
origin of his cancer for more than 10 years. He hoped that any
identified mutations would lead to a newly developed drug or
clinical trial that could attack his cancer with precision.
Manookian left no stone unturned and remained in touch until she
found a clinical trial. Thanks to Manookian's persistence, he
finally got answers and learned that his sons did not carry the
same increased genetic risk of prostate cancer.
- Donna McDonald-McGinn, MS, LCGC,
Children's Hospital of Philadelphia in Philadelphia, was nominated by the mother of a
son with a rare genetic condition called 22q11.2 deletion syndrome.
McDonald-McGinn has been his care coordinator and navigator for 21
years, explaining and managing the care that he has needed through
his life. Always acting as his advocate, McDonald-McGinn has been
there for each of his 21 surgeries and is a staunch advocate for
those with 22q11.2 deletion syndrome.
- Gretchen MacCarrick, MS, CGC,
Johns Hopkins Medicine in Baltimore, was nominated by a mother whose
daughter has Loeys-Dietz syndrome (LDS), which was discovered in
2005. For nearly 12 years, MacCarrick has been by their side
guiding them. She explains what tests are needed, what the results
mean and navigates their daughter's care during their regular
visits to Baltimore, including a
major heart surgery. Importantly, MacCarrick has even developed a
strong relationship directly with the patient who is now 16 and
getting more engaged in her care.
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 invitae.com.
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 implications of the
company's study results; and the importance and potential benefits
of genetic testing for pancreatic cancer patients. 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, 2020.
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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SOURCE Invitae Corporation