Should germline genetic testing be offered to all patients with breast cancer? The American College of Medical Genetics and Genomics (ACMG) addresses this important question in a new statement published in Genetics in Medicine, "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."

Of all cancers that develop in women in the United States (US), breast cancer has the highest incidence, regardless of race or ethnicity. Approximately 5-10% 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.

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.

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. The purpose of this new ACMG points-to-consider document is to outline the rationale for ongoing support of existing evidence-based guidelines built on a risk stratification approach while data related to broader testing strategies continues to emerge.

Medical geneticists play an important role in facilitating the best care and practices of patients with cancer or a predisposition to develop cancer. 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."

Anthony R. Gregg, MD, MBA, FACOG, FACMG, ACMG President

The new ACMG document provides points for clinicians to consider in the context of testing breast cancer patients for inherited cancer predisposition, including:

The points-to-consider document concludes by stating, "With the advances in sequencing technologies and increasing access to and expanding indications for genetic testing, it remains critical to ensure that implementation of testing is based on evidence. Currently, there is insufficient evidence to recommend genetic testing for BRCA1/2 alone or in combination with multi-gene panels for all breast cancer patients. Ideally, professional societies should work together to weigh data, formulate and harmonize evidence-based recommendations, and seek to reduce barriers to care...Moreover...the implementation of precision medicine approaches across oncology must also consider a means by which the promise of genetic testing for inherited cancer predisposition may be realized by all populations, regardless of race, ethnicity and ability to pay."

Source:

Journal reference:

Pal, T., et al. (2019) 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 (ACMG). Genetics in Medicine. doi.org/10.1038/s41436-019-0712-x.

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