Data honored and presented at the 2016 ACMG Annual Clinical Genetics Meeting
SAN FRANCISCO--(BUSINESS WIRE)--
Invitae
Corporation (NYSE:NVTA),
a genetic information company, today presented data showing that both
patients and clinicians in the rare disease community face significant
obstacles navigating the diagnosis of rare disease. The poster titled
“Rare Disease Diagnosis Obstacles: Patient Perspectives and Physician
Findings” has been acknowledged by the American
College of Medical Genetics and Genomics (ACMG) as a top poster
presented at their Annual
Clinical Genetics Meeting.
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New data on rare diseases demonstrate impact of delayed diagnosis and obstacles for patients and clinicians, including lack of information, time to diagnosis, and accessibility due to cost. (Photo: Business Wire)
“Rare disease affects as many as 30 million people in the U.S. alone,
and many of these patients and their families are receiving misdiagnosis
after misdiagnosis,” said Nicole Boice, founder and CEO of Global
Genes, one of the leading rare disease patient advocacy
organizations in the world. “Access to high-quality, affordable genetic
testing is absolutely essential to patients and their families in the
rare disease community, where a diagnosis is so critical to the
treatment of these rare diseases.”
To better understand the obstacles impeding diagnosis for rare disease,
Invitae commissioned an online survey of 101 clinicians and 150
patients/caregivers in the rare disease community through a third-party
survey provider. Patients reported receiving an average of three
preliminary diagnoses and seven diagnostic tests and/or procedures
during their diagnostic journeys, which lasted an average of 3.9 years.
During this time, 39% of patients felt they had paid for ineffective
treatments or interventions that were based in part on an incorrect
diagnosis. Approximately 23% of patients received multiple genetic
tests. Obstacles for patients in the diagnostic journey included lack of
information (76%) and inadequate insurance coverage (21%), resulting in
60% of patients incurring unexpected financial burden and 29% going into
debt.
“As a parent, I can attest to the grueling process of searching for the
right diagnosis for a child suffering from a rare disease,” said Melanie
Huntley, Ph.D., board member of LGS
Foundation, a non-profit organization dedicated to improving the
lives of individuals living with Lennox-Gastaut Syndrome, a rare and
catastrophic form of childhood-onset epilepsy, through research,
programs, and education. “It’s so difficult to watch your child
suffering from a disease for which you have endless questions and
misdiagnoses. Having a diagnosis can mean a world of difference to the
health of the patient and the management of the rare disease.”
Clinician findings corroborated patient perceptions. Clinicians observed
that rare disease patients receive on average 4 to 5 diagnoses and 14
diagnostic tests and/or procedures during their diagnostic journey.
Physicians reported lack of information about genetic testing (54%) as
an obstacle, even though 83% agree genetic testing is useful and 69%
observe it shortens the time to diagnosis. Lack of information about
cost of testing (49%) and about indications for referral to a clinical
geneticist (31%) were also considered obstacles. Approximately 45% of
physicians indicated that more resources are needed to effectively
diagnose members of the rare disease community.
The study observed that both patients and clinicians face significant
obstacles navigating the diagnosis of rare diseases, including lack of
information, time to diagnosis, and cost. These observations suggest a
need for increased education resources for patients and clinicians
regarding the role of diagnostic genetic testing, earlier implementation
of appropriate genetic testing, and mechanisms to make genetic testing
financially more accessible. Approximately 67% of clinicians indicated
the lack of a proper diagnosis for rare disease patients hinders their
ability to effectively care for these patients, highlighting the need
for further research to help overcome obstacles in the diagnostic
journey of patients with rare diseases.
“At Invitae, we strive to make genetic testing more affordable and
accessible. A diagnosis is especially important to the rare disease
community, not just for the treatment of a rare disease, but also for
the emotional aspects of living with a rare disease,” said Stephanie
Gandomi, M.S., LCGC, genetic counselor at Invitae and lead investigator
of the study. “Genetic testing can help these patients and their
families find answers and transform the way rare diseases are diagnosed
and managed in the clinical setting.”
About Invitae
Invitae Corporation's (NYSE:NVTA) mission is to bring comprehensive
genetic information into mainstream medical practice to improve the
quality of healthcare for billions of people. 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 and panel tests today. The company currently provides a
diagnostic service comprising hundreds of genes for a variety of genetic
disorders associated with oncology, cardiology, neurology, pediatrics
and other rare disease areas. 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 effects of genetic testing on
patients and their families and the way rare diseases are diagnosed and
managed in the clinical setting; the company’s belief that it can
accelerate the adoption of comprehensive genetic information into
mainstream medical care and realize its mission; the timing of any new
testing service releases and the attributes of any such services; the
company’s beliefs regarding the benefits of its pricing program; and the
attributes and benefits of the company’s tests to patients, physicians,
and payers. 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 need to scale its
infrastructure in advance of demand for its tests and to increase demand
for its tests; the company’s ability to develop and commercialize new
tests and expand into new markets; the risk that the company may not
obtain or maintain sufficient levels of reimbursement for its tests;
risks associated with the company’s ability to use rapidly changing
genetic data to interpret test results accurately and consistently; the
company’s ability to compete; laws and regulations applicable to the
company’s business, including potential regulation by the Food and Drug
Administration; 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 most recent Annual Report on Form 10-K and its
Quarterly Report on Form 10-Q for the quarter ended September 30, 2015.
These forward-looking statements speak only as of the date hereof, and
Invitae Corporation disclaims any obligation to update these
forward-looking statements.

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Source: Invitae Corporation