Invitae’s platform demonstrates high concordance
with traditional diagnostic tests for BRCA1 and BRCA2 and increased yield of
clinical findings in hereditary cancer risk assessment.
SAN
ANTONIO – December 10, 2014 –
Invitae Corporation, a genetic information company, announced the presentation
of two scientific studies at the 37th Annual San Antonio Breast Cancer
Symposium: “Clinical Evaluation of Multi-gene Testing for Hereditary Breast and
Ovarian Cancer” (Poster P4-12-04) and “Technical Evaluation of
Multi-gene Testing for Heredity Breast and Ovarian Cancer” (Poster P4-12-07).
The studies were both conducted in
collaboration with the Massachusetts General Hospital and the Stanford University
Cancer Institute and utilized Invitae’s next generation sequencing (NGS) based 29-gene
hereditary cancer panel. This panel includes BRCA1 and BRCA2, as well as 27
other important genes related to hereditary cancer syndromes. Between these two
studies, the Invitae multi-gene test panel was evaluated in 1,062 patients undergoing
assessment for hereditary breast and ovarian cancer (HBOC). Most of these
patients had previously received traditional testing for BRCA1 and/or BRCA2 by
a different provider. There were also 43 reference samples included for a total
study population of 1,105 individuals.
“These studies provide a representative
view of the results that can be obtained from these types of diagnostic tests,”
said Leif Ellisen, M.D., Ph.D., Program
Director at the Center for Breast Cancer, Massachusetts General Hospital
Cancer Center, Professor of Medicine
at Harvard Medical School, and a Principal Investigator on the two studies.
“Multi-gene hereditary cancer tests can offer comparable performance to traditional
BRCA1/2 genetic testing, while potentially providing additional clinical
benefits to doctors and patients seeking cancer risk assessment.”
Poster P4-12-04 by Dr. Ellisen and
colleagues focuses on the clinical implications of test panels on a
representative population of 735 patients prospectively recruited under HBOC
risk assessment guidelines. Approximately 40% more patients had a deleterious
mutation found by the Invitae test panel than had been reported previously by
BRCA1/2 testing alone. Most (approximately 80%) of these non-BRCA mutations fit
the spectrum of disease seen in the patient and his or her family, suggesting
that these are not incidental findings. Most importantly, the study found that approximately
70% of these mutations would potentially warrant a change in care for the
patient or his or her family. Possible management changes varied; in most cases,
additional testing or screening changes would be indicated, while in a few
cases surgical interventions might be considered.
Poster
P4-12-07 by Stephen Lincoln, Ph.D. and colleagues examines the technical
performance of the Invitae test compared to the previous, traditional testing.
750 DNA alterations in the larger set of 1,105 individuals could be directly
compared between the two tests and 100% analytical agreement was observed. Importantly,
this set included a large number of alterations previously thought to be
technically challenging for NGS tests, but which could be accurately detected
using the Invitae technology. These challenging cases represented a meaningful fraction
(13.4%) of the reportable deleterious mutations. Clinical test interpretations were
compared between Invitae and the previous laboratory, and 99.8% agreement was
seen for BRCA1/2 reports.
“We
are pleased by the performance of Invitae’s next generation sequencing platform
in replicating BRCA1 and BRCA2 results across a large number of patients and in
further demonstrating the utility of our multi-gene cancer panel in assessing
hereditary cancer risk” said Randy Scott, Ph.D., CEO of Invitae. “We believe
that the low cost and economy of scale provided by next generation sequencing
will allow us to substantially decrease the average cost of hereditary cancer
testing over the coming years and allow us to make early risk assessment more
affordable and accessible to families around the world.”
The
authors of these two studies believe that genetic information is more powerful
when shared and that evidence used in clinical care should be available for
peer review. To help improve both scientific understanding and patient care
globally, all of the Invitae results from these two studies have been submitted
to Clinvar, a database operated by the National Center for Biotechnology
Information, as well as ClinVitae, Invitae’s database of clinically-observed
genetic variants aggregated from public sources.
About Invitae
Based in San Francisco, Invitae’s mission is
to bring comprehensive genetic information into mainstream medical practice to
improve the quality of healthcare for billions of people. Currently focused on
hereditary cancers, Invitae’s goal is to aggregate most of the world’s genetic
tests into a single service with higher quality, faster turnaround time and
lower price than many single-gene tests today. The company currently provides a
single diagnostic test comprising over 200 genes for a variety of genetic
disorders associated primarily with cancer, but also covering cardiology,
hematology, neurology and pediatrics. For further information, please
visit www.invitae.com.
Contact:
Katherine
Stueland
Invitae
pr@invitae.com
415.254.1233
Mindy Lizmi
W2O Group
mlizmi@w2ogroup.com
571.970.7066