ATLANTA, Nov. 14, 2018 /PRNewswire/ -- Researchers from
Invitae Corporation (NYSE: NVTA), one of the fastest growing
genetics companies, are presenting research at the National Society
of Genetic Counselors (NSGC) 37th Annual Conference in Atlanta that further underscores the frequency
of medically actionable genetic variants and their utility in
clinical care. In addition to its research presentations, the
company is supporting the Code Talker award, which recognizes
excellence in the field of genetic counseling.
Currently, the American College of Medical Genetics and Genomics
(ACMG) recommends reporting clinically significant genetic variants
in 59 genes as secondary findings for individuals who undergo whole
exome or whole genome sequencing, regardless of the original
indication for testing. These genes are known as the ACMG59 genes
and are associated with increased risk of disease. A study
presented at the meeting evaluated rates of secondary findings in
the ACMG59 genes in 4,325 individuals who opted to receive an
evaluation of secondary findings, either as the primary patient
(proband) or as the parent of a patient.
Of all individuals evaluated, including both probands and
healthy parents, 3.6 percent showed a medically significant finding
in ACMG59 genes associated with personal disease risk. Importantly,
one-third of positive findings were present only in a parent,
highlighting the ability of secondary finding analysis to uncover
actionable information for individuals who were not aware of their
personal hereditary disease risk. These findings support expanding
access to genetic screening for hereditary risk information in
healthy individuals.
"Our study shows first that reporting on secondary findings for
everyone who undergoes testing is important for patient health,
regardless of the original reason for testing," said Robert Nussbaum, M.D., chief medical officer of
Invitae. "In addition, the frequency of actionable variants
identified here in the ACMG59 complements other Invitae data
showing that as many as 16 percent of healthy people who choose to
have a genetic health screen with a larger panel of 147 genes have
an actionable genetic variant that puts them at risk for disease.
These data support the value of offering targeted gene panels that
include the ACMG59 genes to the general population in order to
identify and mitigate hereditary disease risks."
Code Talker Award Honors Impact of Genetic
Counselors
In addition to the research presentations at the meeting,
Invitae will once again present the Code Talker award ceremony in
conjunction with NSGC. Nominations for the award came from patients
who shared stories of both the clinical and personal impact a
genetic counselor had on their lives and the lives of their
families. This year's ceremony honors the following three
finalists:
- Margaret Au, MBE, MS, CGC, from
Cedars-Sinai Medical Center in Los
Angeles, was nominated by the mother of a patient with a
rare disorder that mystified doctors for more than 20 years. Au
guided the patient and her family through genetic testing that
finally yielded a diagnosis and helped them access clinical
experts, research and other families with similar conditions.
- Lisa Johnson, MS, CGC from Miami
Valley Hospital in Dayton, Ohio,
was nominated by a patient who sought counseling during prenatal
testing that showed the child would be born with a permanent,
life-changing genetic condition. Johnson helped the family with
research, information and connections to other families facing
similar challenges.
- Hannah Scanga, MS, LCGC from the
UPMC Children's Hospital of Pittsburgh, was nominated by the father of a
young boy with a rare genetic disorder that severely limited his
vision in both eyes. Scanga, a specialist in the field of ocular
genetics, guided the family through genetic testing that provided a
diagnosis and a gateway to follow-up care that restored the child's
vision and allowed him to resume the normal activities of
childhood.
Full presentation schedule
The full schedule of the Invitae presentations at the meeting is
as follows:
Thursday, November 15
- Poster #B-200: Comprehensive analysis of the ACMG59 genes in
parental samples submitted for exome evaluation yields a high
positive rate | Presented by Eden
Haverfield, DPhil, FACMG, Invitae | 6:00 - 7:15 pm ET
Friday, November 16
- Lunch Seminar: The Goldilocks principle: Finding 'just right'
in a world of expanding guidelines and growing access to genetic
testing | 12:15 - 1:30 pm ET
- Poster #C-210: Removing the barrier of cost for family variant
testing in cancer predisposition genes significantly increases
uptake among relatives | Presented by Rachel F. Miller, MS, CGC, Invitae |
1:30 - 2:30 pm ET
- Educational Breakout Session C14: Immunodeficiencies and Bone
Marrow Failure: What Every Genetic Counselor Should Know |
Presented by Britt Johnson, PhD,
FACMG, Invitae | 3:10pm - 4:40 pm
ET
- Educational Breakout Session C16: New Developments in Testing
Methods and Bioinformatics | Presented by Stephen Lincoln, Invitae | 3:10 - 4:40 pm ET
- Third Annual Code Talker Award Ceremony and Reception,
presented by Invitae in conjunction with NSGC | 6:30 - 8:30 pm ET
Saturday, November 17
- Educational Breakout Session D06: Conflict of interest: We are
stuck with it, so how should we address it? | Presented by
Kate Lynch, MS, LCGC, Invitae |
10:10 - 11:40 am ET
Join us at booth 703 for refreshments and to learn about the
resources and support Invitae is developing for the GC community.
For more information on Invitae's presence at NSGC, please visit
www.invitae.com/nsgc2018. Additional information on the NSGC Annual
Conference is also available at www.nsgc.org/conference.
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 the frequency of medically
actionable genetic variants and their utility in clinical care; the
value of expanding access to genetic screening for hereditary risk
information in healthy individuals; that reporting on secondary
findings for everyone who undergoes genetic testing is important to
patient health; and the value of offering targeted gene panels that
include the ACMG59 genes to the general population in order to
identify and mitigate hereditary disease risks. 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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SOURCE Invitae Corporation