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June 11, 2020

Recent Research And New Multidisciplinary Framework For Genetic Testing In Prostate Cancer Supports Broader Use Of Panels, Testing In Early Stage Disease

-- Research highlights frequency of clinically important genetic variants across all stages of prostate cancer --

SAN FRANCISCO, June 11, 2020 /PRNewswire/ -- New recommendations from a large, multidisciplinary consensus conference published this week in the Journal of Clinical Oncology suggest expanding use of genetic testing to guide treatment for men with prostate cancer, including the use of panel testing and testing patients with early stage disease. Taken together with research recently presented by Invitae (NYSE: NVTA), a leading genetics company, the publications underscore the utility of increased access to genetic testing for men with prostate cancer across all stages of disease.

Invitae was among the non-voting sponsors of the conference, which gathered more than 100 experts across a number of specialties with the goal of developing recommendations for how clinicians can use genetic testing to help patients benefit from precision medicine approaches to prostate cancer.

"Inherited prostate cancer is starting to get the attention it deserves, but we have a long way to go to catch up to the research and testing that has been done in other cancers, such as breast cancer," said Sarah Nielsen, M.S., L.C.G.C. a medical affairs liaison now at Invitae who previously participated in the conference. "This framework provides a very thoughtful approach to implementing genetic testing for prostate cancer treatment, screening and family testing. Importantly, the framework recognizes that changes in a number of different genes can increase prostate cancer risk and therefore encourages greater use of panel testing for men with metastatic disease. With new precision therapies linked to specific genetic changes, increased genetic testing can help identify patients who could benefit from these approaches."

Among the consensus conference recommendations:

Larger panels are useful for patients with metastatic disease

Large germline panels and somatic testing were recommended for patients with metastatic prostate cancer. Of the approximately 12-17% of men with metastatic prostate cancer who harbor germline variants, the majority are found in DNA damage repair (DDR) genes such as BRCA1, BRCA2, ATM, CHEK2, PALB2, and the DNA mismatch repair (MMR) genes. Large panels provided information across these and other genes of significance, information which is increasingly informing options for PARP inhibitors, immune checkpoint inhibitors, platinum chemotherapy, and clinical trials.

Genetic information can support early diagnosis and inform disease surveillance

Germline test results are increasingly important for early detection, as men with BRCA2 variants exhibit higher rates of prostate cancer, often with a younger age at diagnosis and more clinically significant disease. Among patients with early-stage disease, emerging data suggest that men with germline BRCA2 mutations and possibly ATM mutations have higher rates of upgrading of prostate biopsies while on active surveillance, suggesting the utility of genetic information in shaping surveillance strategies after diagnosis.

Importance of using genetic information requires novel strategies to increase access to counseling resources

The guidelines recommend broad access to genetic counseling support but shortages of genetic counselors and wait times for traditional genetic counseling workflows will require development of alternate models for timely and responsible delivery of genetic testing for men and their families. The consensus framework provides suggestions for clinicians on how to counsel and provide alternatives to traditional in-person appointments for patients across a number of issues related to testing, including using pretest education materials and the use of telehealth genetic counseling sessions.

"This framework provides an important step in helping clinicians incorporate genetic testing into care for a wide range of prostate cancer patients," said Robert Nussbaum, M.D., chief medical officer of Invitae. "Research has shown that narrow testing criteria will miss men with clinically relevant variants that could inform their care. Providing a framework for more clinicians to expand their use of genetic testing will increase the number of patients who benefit from precision medicine approaches."

Research underscores frequency of clinically important variants that may be missed by narrow testing criteria

In addition, a study presented recently at the American College of Medical Genetics and Genomics online annual meeting that further underscored the frequency of actionable variants expanded testing can help uncover.

The study of 2,252 men who participated in Invitae's Detect Prostate Cancer program found an overall positive rate of 13% with no statistical differences in rates among stages of disease. Only half of patients with an actionable variant reported a family history suggestive of increased risk. Nearly three-quarters (71%) of positive patients were eligible for management guidelines and/or potentially eligible for approved precision therapies or clinical trials. These data suggest that broader testing criteria and greater access to testing leads to better informed care for patients and their families.

The consensus conference noted the need for additional research into the associations between genetics and prostate cancer in African-American men, who are 1.8 times more likely to be diagnosed with and 2.2 times more likely to die from prostate cancer. Importantly, this study included 16% participation among African-Americans, which is greater participation than previous similar studies, aligning to the consensus conference research priorities. 

The full consensus statement can be found in the Journal of Clinical of Oncology.

About Invitae

Invitae Corporation (NYSE: NVTA) is a leading medical genetics company, whose 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 the company's website at

Safe Harbor Statement

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the implications of the company's research and the consensus conference recommendations; the utility of increasing access to genetic testing for men with prostate cancer; and the benefits of larger panels and broader testing criteria. 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 March 31, 2020. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Laura D'Angelo
(628) 213-3283


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