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Is There Evidence to Support Genetic Testing for All Patients with Breast Cancer?

Susan Klugman, MD, FACMG

VP Clinical Genetics, American College of Medical Genetics and Genomics

Identification of inherited cancer risk empowers individuals and their families to prevent cancers or detect them early. Furthermore, incorporating genetic testing results into patients’ care plans has the potential to guide treatment and improve outcomes. But testing alone will not improve outcomes. Implementation of appropriate care following testing is required and data are needed to generate evidence that informs clinical practice.

Of all cancers that develop in women in the United States, breast cancer has the highest incidence, regardless of race or ethnicity. Approximately five to 10 percent of breast cancers are estimated to result from hereditary causes, the majority of which are attributed to pathogenic or likely pathogenic (P/LP) variants in the BRCA1 and BRCA2 (BRCA1/2) genes, although variants in other genes such as PALB2, TP53, PTEN, CDH1, CHEK2, and ATM also contribute. 

As progress in precision medicine continues, it is important that patients receive accurate information to ensure the implementation of risk reducing strategies and evidence-based cancer genomics best practices. 

“Medical geneticists play an important role in facilitating the best care and practices of patients with cancer or a predisposition to develop cancer,” said American College of Medical Genetics and Genomics (ACMG) President Anthony R. Gregg, MD, MBA, FACOG, FACMG. 

ACMG addressed the question of whether genetic testing should be offered to all patients with breast cancer in a recent statement: “Points to Consider: Is There Evidence to Support BRCA1/2 and Other Inherited Breast Cancer Genetic Testing for All Breast Cancer Patients? A Statement of the American College of Medical Genetics and Genomics.”

“This Points to Consider document acknowledges the complexity of professional organization guidelines in the cancer space. Medical geneticists are uniquely qualified to analyze the literature that informs professional organizations and their guidelines. Implementation of cancer genetic testing guidelines is best when carried out with input and in many cases under the direction of a medical geneticist with cancer expertise,” Gregg said.

When it comes to testing breast cancer patients for genetic predispositions, ACMG advises clinicians to consider patients’ unique medical and family histories, the limited evidence available, genetic testing best practices, and how best to discuss implications of testing with patients.

The document concludes that there is insufficient evidence to recommend genetic testing for all breast cancer patients but outlines the importance of supporting existing guidelines for genetic tests. 

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