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Genetic tests for breast cancer underused, misunderstood, say researchers

6082331179_5870850466_bI wrote recently about the dearth of genetic testing and counseling for women with breast cancer. Now the same trio of researchers -- Stanford cancer geneticist Allison Kurian, MD, and cancer specialists Steven Katz, MD, and Reshma Jagsi, MD, PhD, at the University of Michigan -- have extended their studies to investigate how physicians utilize genetic test results as they help their patients make treatment decisions. The findings, which they published today in the Journal of Clinical Oncology, were disturbing.

From our release:

Only about half of the surveyed women who received genetic testing ever discussed their test results with a genetic counselor, and between one-quarter and one-half of the surveyed breast cancer surgeons indicated they treat women with [mutations not known to increase subsequent cancer risk] no differently than women with known cancer-associated mutations, the researchers found. Furthermore, some women undergo surgery prior to receiving genetic testing or seeing the results.

The researchers' survey of more than 2,000 newly diagnosed women indicated that half of those who chose to have both breasts surgically removed in a procedure called a bilateral mastectomy did not, in fact, carry mutations known to increase their risk of developing cancer in their unaffected breast.

They also found that the number of breast cancer patients a physician treated in a typical year mattered. Less experienced breast cancer surgeons were less confident about discussing the results of genetic testing with patients and more likely to order the genetic test without referring women to a genetic counselor. They were also less likely to delay surgery in order to have test results available for surgical decision-making and more likely to manage a patient with variants of uncertain significance in the same way they would manage patients with proven high-risk mutations in cancer-associated genes.

As Kurian, who is a member of the Stanford Cancer Institute, explained in our release:

We’re learning that clinicians’ knowledge of breast cancer genetics can be highly variable. It’s important for women at high risk of carrying a dangerous mutation to see someone with expertise in cancer genetics when planning their care... Our study highlights the urgent need for improved patient access to cancer genetics experts, particularly genetic counselors, and for educating physicians about the appropriate use of genetic testing and interpretation of test results.

Previously: Women "undertested" for breast cancer mutations, say researchers, Gene panel screens for dozens of cancer-associated mutations, say Stanford researchers and Breast cancer patients are getting more bilateral mastectomies--but not any survival benefit
Image by Stefano

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