Researchers Caution Against Use of Gene Panel Tests to Predict Breast Cancer Risk

By Amy Orciari Herman

Edited by Susan Sadoughi, MD, and Richard Saitz, MD, MPH, FACP, FASAM

Most of the 100-plus genes commonly included in gene panel tests have no known link to breast cancer, researchers argue in the New England Journal of Medicine.

They note that such tests can be marketed and adopted into practice without established clinical validity — that is, without proof that the variants they detect are actually associated with disease risk. This, write the authors, "is likely to lead to substantial misuse of the technology."

They note that variants in just 11 genes — most notably, BRCA1 and BRCA2 — have been linked to breast cancer. They say there's not enough evidence to link any other genes to breast cancer, and they "would caution against their use in the prediction of breast cancer risk."

The authors conclude: "As the costs of sequencing decline, it is inevitable that the use of gene-panel testing ... will become widespread. Therefore, there is an urgent need for much larger, well-designed population- and family-based studies in diverse populations that will provide reliable estimates of risk for the purpose of counseling."

The NEJM article includes tables listing the currently available gene panel tests, as well as the magnitude of risk associated with each of the 11 variants with a proven link to breast cancer.