Pat Whitworth MD/

Breast surgeons now advocating genetic testing on all cancer patients

Current Eligibility Guidelines Omit Patients Who Could Benefit From Genetic Testing: Studies Show 30% of BRCA and 50% of all mutations missed when following criteria.

Two different large scale studies that evaluated current criteria for selecting breast cancer patients eligible for genetic testing were presented at this year’s American Society of Breast Surgeons annual meeting. Both demonstrated current guidelines determining eligibility for genetic tests that assess patient’s risk of further developing breast cancer--unknowingly until now--are irrelevant.  Both studies showed no statistically significant differences in risk between patients eligible and those not eligible for genetic testing.

Guidelines recommended by Medicare and NCCN state that only certain patient subsets who meet select criteria qualify for the costly genetic testing that should identify which patients would benefit from further clinical actions.  These eligibility requirements were intended to weed out those who would not benefit from genetic testing, saving hundreds of thousands of dollars.  However, those “qualifications” appear to have no association with actual test results and instead weed out some patients who could really use that information to improve their life.

In the study using Medicare criteria for ordering genetic tests, about 30% of BRCA patients would not have been tested. Over 4000 Medicare cancer patients were tested and 10.5% of those who qualified for testing had positive results while 9% of those who did not qualify for testing had positive results.  This suggests that many patients who could benefit from clinical actions if they had genetic testing are being overlooked.

Guidelines Miss Patients Who Could Benefit Part 1

Positive rates in patients with Medicare

In another study summarized in ASCO Post June 10, 2018, data from TME’s Universal Genetic Testing Registry for breast cancer targeted a sample size of 1,000 patients, with at least 500 patients in each category: those who were within the NCCN criteria and those who were not.  Again, there were no statistically significant differences in positive results for patients who did qualify for genetic testing as those who did not qualify for the testing.

Guidelines Miss Patients Who Could Benefit Part 2

Positive rates in breast surgery patients

"These data suggest that clinicians recommending genetic testing for only those patients who fit criteria are likely to be missing patients with clinically actionable variants,” stated Peter Beitsch, MD, TME Research.

Actionable Recommendations
These studies proved what many breast surgeons have feared for some time, and many have already adopted the position of testing all breast cancer patients regardless of eligibility.  For instance, the Nashville Breast Center tests all breast cancer patients and opens the conversation with:

“ We are going to run a genetic test to see if you have one of the genes that can be inherited and can increase your risk of developing cancer.  The testing might affect recommendations for your treatment.  In addition, this might be important for your children and other family members.”

Their thinking Is that they are not testing just that patient, they are testing that family.  Their hope is that more breast surgeons will adopt these same practices, especially after the reveal of non-significance of current test criteria.

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