Clinical practice guidelines recommend genetic testing on all breast cancer patients

The Invitae study reports that universal genetic testing improves outcomes for breast cancer patients

SAN FRANCISCO, September 22, 2022 / PRNewswire / – Invitae (NYSE: NVTA), a leader in medical genetics, published a new study in Open JAMA networkemphasizing the clinical usefulness of the American Society of Breast Surgeons (ASBrS) guidelines. recommending universal genetic testing for breast cancer patients and showing universal testing improves patient outcomes. Building on a previous study reported in Journal of Clinical Oncology, the present study is the first clinical outcome study of a cohort of unselected breast cancer patients who underwent universal germline genetic testing. Our data shows that genetic information helps patients and their doctors implement effective precision treatments and personalized management of their cancer.

The data confirm the clinical utility of the universal germline test for all patients regardless of cancer type, age, stage or family history, as cited in historical studies published in JAMA Oncology And Clinical gastroenterology and hepatology from Invitation And Mayo Clinic.

“This study and others clearly demonstrate why universal genetic testing for breast cancer patients is the current standard of care in clinical practice,” he said. Pat Whitworth, MD, lead author, surgical breast oncologist and director of the Nashville Breast Center. “It is essential that practices systematically implement universal testing to improve patient care and outcomes. More importantly, this is the only way we find family members who carry the gene and need prevention. Other guidelines half of these unaffected carriers are missing. “

In the study, physicians were asked to evaluate changes to clinical management following the results of germline genetic testing for 952 patients. Clinical recommendations were changed for 68% of patients who no they meet the criteria for testing according to the previous non-universal guidelines, but were found to have pathogenic variants in the cancer predisposition genes. For those with pathogenic variants that met the criteria under previous guidelines, genetic testing affected management with one or more changes to the recommendations reported for 84% of patients.

Clinicians considered the tests useful for two-thirds of patients with pathogenic variants (e.g., gene-based therapy) and for one-third of patients with negative results or variants of uncertain significance (e.g., reduction of surgical intervention escalation ).

ASBrS the recommended universal germline genetic test has the potential to impact millions of people, as breast cancer is the most frequently diagnosed cancer in women, affecting > 7 million worldwide with over 2 million new cases expected to be diagnosed each year according to the American Cancer Society. About 1 in 8 (13%) women will be diagnosed with invasive breast cancer in their lifetime and 1 in 39 (3%) women will die from breast cancer. Before the ASBrS guidelines, only about 25 percent of breast cancer patients in the United States underwent genetic testing.

“The medical community’s understanding of genetics and cancer, and the underlying evidence, has evolved to make universal genetic testing the standard of care for breast cancer,” he said. Peter Beitsch, MD, surgical oncologist, former president of the ASBrS and co-PI of the Invitae iGAP registry. “This will not only benefit patients, but entire families – male and female relatives – as the pathogenic variants associated with breast cancer can lead to many types of cancer, including prostate cancer.”

The ASBrS has established guidelines recommending germline genetic testing for all patients currently or previously diagnosed with breast cancer in 2019 (Consensus Guidelines on Genetic Testing for Hereditary Breast Cancer from the American Society of Breast Surgeons), catalyzed and supported by our studies in Journal of Clinical Oncology And tumors. “The sooner we systematically implement universal genetic testing for breast cancer patients, the sooner we get results Cancer Moonshot 2.0 by President Biden targets for reducing cancer mortality and improving the lives of cancer patients and their families “, And EslinoMD, PhD, FACMG, FACP, clinical geneticist at Invitae and senior author of the study.

Restrictive guidelines can lead to disparities in cancer care. By offering germline genetic testing to all cancer patients at the time of diagnosis, consistent with the recent consensus of experts in JCO Precision Oncologycan help reduce inequalities in cancer care by expanding all patients’ access to precision therapy or clinical trials.

About Invitation

Invitae Corporation (NYSE: NVTA) is a leading medical genetics company whose mission is to bring comprehensive genetic information into traditional medicine to improve healthcare for billions of people. Invitae’s goal is to aggregate the world’s genetic testing into one service with superior quality, faster turnaround times, and lower prices. For more information, visit the company’s website at

Safe Harbor Statement

This press release contains forward-looking statements under the Private Securities Litigation Reform Act of 1995, including statements regarding the company’s study results; the clinical utility of the universal germline genetic test for breast cancer patients; the potential benefits of genetic information; the company’s beliefs about the impact of implementing universal germline testing on reducing cancer mortality and improving patients’ lives; and the company’s belief that offering universal germline testing to cancer patients can help reduce inequalities in cancer care. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially and the results reported should not be relied upon as a guide to future performance. These risks and uncertainties include, but are not limited to: the history of the company’s losses; the company’s ability to compete; the company’s inability to effectively manage growth; the need for the company to scale its infrastructure before applying for its tests and to increase the demand for its tests; the company’s ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, data loss and other disruptions; laws and regulations applicable to the company’s business; and other risks disclosed in the company’s filings with the Securities and Exchange Commission, including the risks disclosed in the company’s quarterly report on Form 10-Q for the quarter ended June 30, 2022. These forward-looking statements are effective only as of the date of this document, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Renée Kelley
[email protected]
(628) 213-3283

SOURCE Invitae Corporation


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