IN A MOVE that is a significant departure from current testing recommendations, the American Society of Breast Surgeons (ASBrS) recommends that genetic testing be available to all individuals newly diagnosed with breast cancer.¹ The new recommendations expand on common restrictions by the National Comprehensive Cancer Network® (NCCN®) that recommend testing only for certain age groups and types of cancer.

Walton A. Taylor, MD

Walton A. Taylor, MD, President of the ASBrS, wrote to Society members that after reviewing the current literature on the topic, an expert panel concluded, “we must change our official recommendations for genetic testing … to now recommend that genetic testing be made available to all patients.”

In the letter to his colleagues, Dr. Taylor wrote, “Too many patients develop cancers that might have been prevented or found earlier if genetic testing had been performed. Our Society has a responsibility to act when we see an opportunity to decrease unnecessary morbidity and mortality. We do so today with the adoption of our new position on this issue.”

Foundation for New Guidelines

THE NEW ASBRS Consensus Guideline cites a recent report published in the Journal of Clinical Oncology that found a similar rate of pathogenic variants in patients with breast cancer who did not qualify for testing under the NCCN criteria and those who did.² The panel also performed an extensive review of the current literature, finding that the NCCN criteria are restrictive and miss many patients harboring mutations related to the disease.

“As medical science identifies a growing number of genetic anomalies linked to cancer and other diseases, genetic testing guidelines must evolve,” Dr. Taylor said in a statement. “When these guidelines [from NCCN] were established, the long-recognized BRCA1/2 variants were essentially the only mutations with a known association to breast cancer. Genetic testing was extremely costly and limited in availability.”

Today, the list of mutations associated with breast cancer is growing and genetic tests are significantly less expensive. While current guidelines are often used to deny women with mutations other than BRCA1/2 access to testing, a number of mutations are now known to be relevant and to have management implications, he pointed out.

Brief Summary of the Recommendations

THE NEW GUIDELINE makes the following five recommendations:

1. Breast surgeons, genetic counselors, and other medical professionals knowledgeable in genetic testing can provide patient education and counseling, can make recommendations to their patients regarding genetic testing, and can arrange testing.

2. Genetic testing should be made available to all patients with a personal history of breast cancer. This should include BRCA1, BRCA2, PALB2, and other genes as appropriate for the clinical scenario and family history.

3. Patients who have previously had genetic testing may benefit from updated testing, as testing prior to 2014 usually did not include PALB2 and other potentially relevant genes. This includes patients who had negative results on germline BRCA1/2 tests and are from families with no pathogenic variants.

4. Genetic testing should be made available to patients without a history of breast cancer who meet current NCCN Clinical Practice Guidelines in Oncology. Testing an affected relative first can be more informative than testing of the patient herself (or himself).

5. Variants of uncertain significance are DNA sequences that are not clinically actionable. These patients should be managed based on risk factors and this result should not influence that management.

Additional Thoughts

THE SOCIETY FURTHER suggests that genetic testing information should be considered together with the details of each patient’s case, including age, family history, medical history, and contributing risk factors. Current guidelines for management should also be reviewed.

Also, risk-reducing mastectomy is often not indicated in persons with hereditary pathogenic mutations. It can be considered for individuals with BRCA1/2, PTEN, and TP53 mutations, or those with mutations in other genes who have a significant family history. Some patients with BRCA1/2 mutations should consider oophorectomy as well.

“Before testing, patients should be made aware of the implications of test results in pretest counseling; when results are available, they should be provided with the appropriate clinical context for making informed decisions.”

— Walton A. Taylor, MD

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For patients with mutations in ATM, CDH1, CHEK2, NBN, NFI, PALB2, and STK11, enhanced screening is recommended, but the data do not yet support risk-reducing mastectomy in the absence of other risk factors. Persons with BARD1, MSH2, MLH1, MSH6, PMS2, EPCAM, BRIP1, RAD51C, and RAD51D may have an elevated lifetime risk; however, data are not sufficient to support changes in breast cancer risk management based on this finding alone.

Before testing, patients should be made aware of the implications of test results in pretest counseling; when results are available, they should be provided with the appropriate clinical context for making informed decisions. The current practice is for all patients undergoing genetic testing to have some form of posttest counseling, either in person or remotely. Patients should understand the spectrum of management of their condition. ■

DISCLOSURE: Dr. Taylor reported no conflicts of interest.

REFERENCES

1. American Society of Breast Surgeons: Consensus Guideline on Genetic Testing for Hereditary Breast Cancer. Available at www.breastsurgeons.org/ about/statements/PDF_Statements/Hereditary_Genetic_Testing_Patients_ With_Without_Breast_Cancer.pdf. Accessed February 18, 2019.

2. Beitsch PD, Whitworth PW, Hughes K, et al: Underdiagnosis of hereditary breast cancer: Are genetic testing guidelines a tool or an obstacle? J Clin Oncol 37:1-8, 2018.