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April 28, 2017

New research suggests current genetic testing guidelines may miss breast cancer patients who could benefit from testing

-- Broader use of genetic testing may better assess hereditary cancer risk in breast cancer patients and their families --

LAS VEGAS, April 28, 2017 /PRNewswire/ -- New research suggests that current clinical guidelines on the use of genetic testing in breast cancer patients are too narrow and allow patients with pathogenic variants to be missed. The findings were presented at the American Society of Breast Surgeons (ASBS) Annual Meeting in Las Vegas, and come from a collaboration between TME Research, which represents more than 300 breast care practices in the United States, and Invitae Corporation (NYSE: NVTA), one of the fastest growing genetic information companies.

Analysis of genetic test results from 249 women affected with breast cancer showed that the frequency of clinically relevant mutations was nearly the same among women who did not meet guideline criteria as among those who did meet the criteria. Among the patients who met criteria for testing, 12.7% had deleterious mutations (50% of which were BRCA1/2), while 11.3% of patients who did not meet the current criteria had deleterious mutations (33% of which were BRCA1/2). The findings add to growing evidence in breast and other hereditary cancers that current guidelines may be too restrictive.

"In real world practice, women who do not meet guideline criteria for genetic testing are rarely offered the option to receive it," said Rakesh Patel, MD, lead author on the study and co-founder of TME Research. "These data suggest that many of those women who do not meet guidelines have clinically significant pathogenic mutations in well-known genes such as BRCA1, BRCA2, or CHEK2 that have important implications for their care."

The women were identified as candidates for testing based on current guidelines and several other factors including a recent diagnosis of breast cancer and/or strong family history of breast cancer. Roughly two-thirds of the patients met criteria for testing and one-third did not. Women in the study were tested with a hereditary cancer panel from Invitae in order to guide treatment decisions.

The findings were incidental to the primary purpose of the study in which the women were enrolled, which was evaluating whether physician access to remote clinical consultation with a genetic counselor would impact identification of candidates for genetic testing. A large study that tests all patients who present with breast cancer is underway to directly explore the appropriateness of current guidelines for deciding on genetic testing. 

Remote Peer-to-Peer Clinical Consult Services an Effective Solution to Shortage

With a shortage of genetic counselors (GC) nationwide, remote peer-to-peer clinical consult services are being evaluated as an alternative to ensure access for patients without local access to a GC. The study showed that even among community-based breast cancer physicians experienced with using genetic information in clinical care, consultation with a genetic counselor influenced their choices. In 18% of cases, physicians changed their test selection, resulting either in a change in the genes being tested, a reduction in the panel size, or an increase in the panel size, after consulting with a GC. At Invitae, because the cost of testing is independent of the number of oncology genes being tested, these changes had no impact on the cost of the testing. In addition, 41% of physicians sought a second consultation with a GC after test results were received to discuss the results and management plans.

"Genetic information is complex and each patient's situation is unique. Genetic counselors are trained to navigate those complexities to ensure the best use of genetic testing for the patient and family. Unfortunately, there are too few genetic counselors to meet demand in many parts of the country, particularly in rural areas, leaving physicians to rely on guidelines that may not be keeping pace with current information," said Robert Nussbaum, MD, chief medical officer of Invitae. "This study shows that access to a genetic counselor has a benefit for both physician and patient, helping physicians choose the best gene panel test, consulting on challenging cases, and providing input into clinical decision-making. Peer-to-peer consultation with a GC remotely can ensure the benefits of genetic counseling are available even if there is no local genetic counselor." 

Invitae offers remote consultation with board certified genetic counselors for both clinicians and patients receiving testing. The company's professional Clinical Consult Services are available for support in patient identification, test selection, and results interpretation. The Consult Service also makes available medical literature, guidelines, and other clinical information to aid in clinical decision-making. In addition, consultation with a genetic counselor is available to every patient who undergoes hereditary cancer testing at Invitae, either at Invitae itself or through referral to other genetics professionals via its Genetic Provider Network. In combination with its Breast Cancer STATPanel, which provides results that inform breast cancer surgery and medical management with results in 5-12 calendar days (7 days average), the company aims to provide timely, comprehensive support throughout the testing process.

Additional Research Planned

Invitae and TME Research are collaborating on the Universal Breast Cancer Genetic Testing Registry, a large-scale study to gather clinical and genetic information on more than 1,000 breast cancer patients to better clarify the prevalence of gene alterations associated with breast cancer, the relationship of specific alterations with clinical presentation, and the impact of genetic information on clinical care and genetic counseling of the family. Study participants will be tested with Invitae's multi-cancer panel, an 80-gene hereditary cancer test that includes genes associated with hereditary cancers in eight major organ systems. Any patient with a current or previous diagnosis of breast cancer will be asked to consent to be enrolled in the study and receive genetic testing regardless of whether they meet established testing criteria.

In addition, the company recently launched the Invitae Patient Insights Network℠, a permission-based, patient-centered network designed to make it easy for patients to share health experiences, contribute de-identified clinical data, and maintain their privacy while being connected to the latest research, treatment, and disease education opportunities. The Invitae Patient Insights Network (PIN) is a patient-directed approach to the traditional patient registry. People with breast and other cancers are encouraged to participate in the Invitae PIN to share information, be connected to clinical trial and research opportunities, and contribute de-identified data to research efforts.

More information on the research can be found at TME's website,, and more information on hereditary cancer genetic testing is available at Invitae's website

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 approximately 1,500 genes for a variety of genetic disorders associated with oncology, cardiology, neurology, pediatrics, and other rare disease areas, as well as a clinical whole exome analysis service. Additionally, the company has created a Genome Network to connect patients, clinicians, advocacy organizations, researchers, and therapeutic developers to accelerate the understanding, diagnosis, and treatment of hereditary disease. For more information, visit our website at

About TME

TME is a network of clinicians, researchers, educators and companies whose core mission is to improve the quality and access to targeted breast cancer care by fostering high quality and comprehensive educational programs and resources. TME research is an extension of the TME mission and designs, executes and optimizes accrual in breast cancer and breast health studies with a focus on performing these studies with community leaders. TME is headquartered in Allentown, PA. For more information, visit or

Safe Harbor Statements

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements that broader use of genetic testing may better assess hereditary cancer risk in breast cancer patients and their families; and that Invitae and TME are collaborating on a large-scale study involving more than 1,000 breast cancer patients who will be tested with Invitae's multi-cancer panel. 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 ability to use rapidly changing genetic data to interpret test results accurately and consistently; the company's history of losses; the company's ability to compete; 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 Annual Report on Form 10-K for the year ended December 31, 2016. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

NOTE: Invitae and the Invitae logo are trademarks of Invitae Corporation. All other trademarks and service marks are the property of their respective owners.

Source: Invitae Corporation

Laura D'Angelo

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SOURCE Invitae Corporation

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