On December 9, 2020 Invitae (NYSE: NVTA), a leading medical genetics company, reported three studies demonstrating the benefits of genetic testing for all breast cancer patients, impacting treatment decisions and cancer screening for patients and their families (Press release, Invitae, DEC 9, 2020, View Source [SID1234572489]). The studies, which will be presented at the 2020 San Antonio Breast Cancer Symposium (SABCS), add to the evidence supporting universal access to genetic information for all breast cancer patients.

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Invitae’s (NVTA) mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. www.invitae.com (PRNewsFoto/Invitae Corporation)

"It’s clear that current guidelines are too restrictive and, as a result, many patients with breast cancer whose care could be improved by access to precision medicine approaches are being missed. Universal testing for all patients with solid tumor cancer, including breast cancer, can help inform treatment and improve outcomes for patients," said Robert Nussbaum, M.D., chief medical officer of Invitae. "These data, taken together with many other studies that demonstrate the utility of universal testing for cancer patients, show the time has come to expand testing guidelines to ensure all breast cancer patients and their families can benefit from incorporating genetic information into their care."

In a prospective, multi-center study of breast cancer patients, one in eight patients had inherited genetic variants that could increase their risk of more aggressive disease and inform treatment choices. Despite the patients having inherited genetic variants, testing rates among patients’ families remained low, even when cost was not a barrier. These findings in breast cancer patients were part of a landmark study across various solid tumor cancers recently published in JAMA Oncology.

Findings of a second study at the meeting underscore the impact germline testing can have on patient outcomes. In the longitudinal study, researchers evaluated the clinical outcomes of breast cancer patients who had undergone testing as part of a registry that included patients who met testing criteria and those who did not. Notably, 60% of patients who received targeted chemotherapy based on germline variants were in the group that did not meet testing criteria, highlighting the possibility that certain beneficial treatments and management changes could be inappropriately withheld from patients if restrictive criteria persist.

The third study at the meeting examined select international germline genetic testing criteria from Canada, Australia and the United Kingdom, and its impact on limiting access to testing in patients and their families who may benefit from this information. The study applied the international testing criteria to a cohort of previously tested U.S. breast cancer patients and found that more than 70% of patients with pathogenic variants would have been excluded using current guidelines to allocate germline testing. Furthermore, >80% of the pathogenic variants detected in these out-of-criteria patients were in genes with published management guidelines. This study demonstrates that current international guidelines for genetic testing are overly restrictive and miss actionable findings that could benefit breast cancer patients and their families.

Invitae presentations at 2020 SABCS:

Poster Session 8: Wednesday, December 9 at 8:00 a.m. CT

Pathogenic variants in hereditary cancer syndrome genes are prevalent among breast cancer patients not meeting various ex-U.S. genetic testing guidelines. Presented by Sarah Nielsen, MS, LCGC
Longitudinal clinical outcomes of a multi-center universal genetic testing registry. Presented by Peter Beitsch, MD
Spotlight Poster Discussion 10: Friday, December 11, 2020 at 1:00 p.m. CT

Universal genetic testing in breast cancer patients: A multi-center, prospective study. Presented by Brenda Ernst, MD