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March 10, 2016

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

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 cli ...

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

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.

Source: Invitae Corporation

Invitae Corporation

Laura D’Angelo, 314-920-0617

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