With the move toward massively parallel sequencing (MPS), and away from the more expensive Sanger methodology, the cost of genetic testing for breast cancer has dropped significantly. This has raised the debate as to whether all patients with a diagnosis of breast cancer should be offered more expansive breast cancer genetic testing panels as part of their routine care.
When discussing genetic testing for breast cancer patients, clinicians should be aware of the current insufficient evidence to support genetic testing for all patients with breast cancer, especially with multigene panels that include genes without evidence to support follow-up care
Controversy remains whether all patients with breast cancer should be offered genetic testing. While there is no argument regarding those with significant family/ personal history or clinical findings that may suggest a heritable cancer syndrome, questions remain regarding risks and benefits. ACMG points out that currently “only a small proportion of the at-risk population has been tested. It has been estimated that less than 10% of all adults with BRCA1/2 P/LP variants in the United States have been identified.” Furthermore, minorities seem to be disproportionately affected when it comes to not being tested even when appropriate.
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)
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