Data shows an ‘urgent need’ for comprehensive genetic testing for breast cancer patients

October 13, 2022

3 minutes to read

Invitae supported the study. Esplin reports on employment and stock ownership in Invitae while the study is being conducted and the role of the advisory board and stock ownership in Taproot Health outside of the submitted work. Please see the study for all relevant financial disclosures by other authors.

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Comprehensive germline genetic testing has benefited breast cancer patients and their physicians in implementing effective precise treatments and personalized disease management, according to study results published in JAMA Network is open.

Background and styles

“This research arose from the question of the effectiveness of the restrictive criteria of the National Comprehensive Cancer Network Guidelines in predicting breast cancer patients with disease-causing germline variants,” sod suite Esplin, MD, PhD, FACMG, FACP, A clinical geneticist at Invitae, told Healio. Our previous, observational study of bacterial strain testing, published in Journal of Clinical Oncology, out of approximately 1000 patients who did not find a statistically significant difference in the rate of pathogenic germline variants between breast cancer patients who met NCCN criteria versus those who did not. The results of that study also showed that nearly half of breast cancer patients with a pathogenic germline variant missed NCCN guidelines. This landmark post was released for 2018 American Society of Breast Surgeons to issue new guidelines that recommend comprehensive germline genetic testing for patients with a current or previous diagnosis of breast cancer.”

Clincal's recommendations have changed as a result of genetic testing

Data from Whitworth PW, et al. Gamma neto is open. 2022; doi: 10.1001/jamanetworkopen.2022.32787.

Edward Esplin

Edward de Esplen

Some medical centers have implemented the guidelines; However, the clinical benefit of comprehensive germline genetic testing in breast cancer patients remained unclear, Esplin continued.

“This led to an analysis of the current longitudinal results for the same cohort reported in 2018, demonstrating the clinical utility of comprehensive genetic testing in breast cancer patients,” he said.

The analysis included 952 patients aged 18 to 90 years with a new and/or previous diagnosis of breast cancer who had not previously undergone genetic testing. Patients were assessed as ‘within criteria’ or ‘out of criteria’ according to the guidelines and were tested with the Polygenic Germline Committee between 2017 and 2018.

The authors determined the relationship between the prevalence of pathogenic or potentially pathogenic germline variants and previously unreported clinical features. They additionally evaluated disease management recommendations that changed as a result of genetic test results.

the findings

Overall, physician-reported recommendations were made for 939 patients with breast cancer (mean age at initial diagnosis, 57.6 years; 99.7% women; 74.8% white).

One or more changes occurred to clinical recommendations for 83.8% of patients subject to criteria, which included those with pathogenic variants within the criteria of the previous guidelines, and 67.6% of patients outside criteria, which included those who did not meet criteria for testing under the non-criteria guidelines. Previous global but had a potentially pathogenic or potentially pathogenic variant in the cancer susceptibility gene.

The results showed the recommendations changed as a result of genetic testing results specifically for 63.6% of patients who were out of criteria and had a variant in the breast cancer predisposition gene.

We also found that the BRCAPRO statistical model was not suitable for predicting the likelihood of breast cancer patients developing a pathogenic variant in clinically actionable high-risk genes outside of BRCA1 or BRCA2Esplin said. “Physicians also reported that germline genetic testing positively affected the health outcomes of two-thirds of patients with pathogenic variants.”

Of note, there were no changes to clinical recommendations for most patients with negative results (98.9%) or those with uncertain significance variants (96.7%).

“This led clinicians to consider genetic testing to be useful for a third of patients with negative or mixed results with uncertain outcomes,” Esblin added.


Esplin said the findings demonstrate the clinical benefit of comprehensive germline genetic testing for all patients with a current or previous diagnosis of breast cancer and reinforce the American Society of Breast Surgeons’ guidelines setting this as the standard of care.

In the context of published research on the clinical utility of intermediate-risk genes in breast cancer, recent advances in [poly(ADP-ribose) polymerase inhibitor] Treatment for early breast cancer patients in Olympic ExperienceThe data demonstrate the critical need for comprehensive genetic testing to provide access to accurate therapies and clinical treatment trials and to develop management recommendations for breast cancer patients, as well as back-to-back testing and careful prevention for their family members.”

Esblin added that next steps should include systematic nationwide implementation of the Universal Standards of Care for germline testing of all breast cancer patients, in accordance with the guidelines of the American Society of Breast Surgeons.

“Many institutions are already implementing comprehensive genetic testing for breast cancer, such as the University of Southern California Norris Comprehensive Cancer Center, the Mayo Clinic, and Intermountain Healthcare, among others,” he said. “The sooner we can systematically implement comprehensive genetic testing of breast cancer patients, the closer we will be to achieving the President Atmosphere BidenThe goals of the Cancer Moonshot 2.0 program are to reduce cancer deaths and improve the lives of cancer patients and their families.”

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Edward de EsplenDoctor of MedicinePhD FACMG, FACP, She can be reached at

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