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Opinion

3 Questions on... Better Use of Genetic Testing in Cancer Care

With KATHRYN J. RUDDY, MD, of Mayo Clinic

DiGiulio, Sarah

doi: 10.1097/01.COT.0000482929.58377.36
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KATHRYN J. RUDDY, MD. KATHRYN J. RUDDY, MD

In the recently updated Breast Cancer Survivorship Care Guideline from the American Cancer Society and American Society of Clinical Oncology, one sentence in the subsection on genetic testing warrants a lot of attention, according to cancer survivorship care experts:

“It is important to periodically review these issues with the patient, because some survivors may not have been offered genetic counseling or testing at the time of diagnosis, and/or new cancer events may have occurred in the family after the initial diagnosis and treatment,” the sentence reads (JCO 2016;34:611-635).

The guideline calls for patients to continue to be evaluated and referred to have genetic tests throughout their survivorship care—not just at one point in time right after diagnosis or later on, Kathryn J. Ruddy, MD, Assistant Professor of Oncology at Mayo Clinic, explained in a phone interview with OT. “Genetic testing is really an evolving field; a survivor and a provider might think [a test] has already been completed, [but] now because we know about more genes and we have more options for testing, additional testing may be appropriate and clinically relevant.

For example, in the past it might have been that only certain BRCA mutations were tested for, Ruddy said. But now, newer panel tests allow other mutations to be identified as well.

“It's not so much that the recommendations are different [than previous recommendations], it's more that the options have expanded,” she said. Plus, the costs for genetic testing have come down, making them more affordable for more patients—and there is better insurance coverage, too, she added.

In an interview with OT, Ruddy further explained what led she and coauthors Betsy C. Risendal, PhD, Assistant Research Professor in the Colorado School of Public Health at University of Colorado Denver; Judy E. Garber, MD, MPH, Directior of the Center for Cancer Genetic and Prevention and Susan F. Smith Center for Women's Cancer Institute Physician at Dana-Farber Cancer Institute; and Ann H. Partridge, MD, MPH, Director of the Adult Survivorship Program at Dana-Farber Cancer Institute, to write an editorial on the topic in the Journal of Clinical Oncology (2016;34:539-541).

1 Why call out this specific point about genetic testing to emphasize?

“It's not enough to just think about genetic testing at the time of diagnosis. This really needs to be reassessed many times over time. A patient's family history might change. A patient who didn't have any family members diagnosed with a cancer at the time of their own diagnosis, years down the line might have multiple family members diagnosed. And that really needs to be taken into account when deciding whether additional testing is needed.

“Both clinicians and patients need to rethink about the role of genetic testing across survivorship. I think there's a tendency for aspects of cancer care to fall off the radar during the survivorship period, and what we as survivorship providers need to do is make sure that we're keeping all the important elements of care in our minds as we're seeing our patients over time. Genetic testing is just one of those elements, but it is an important element.”

2 You call for continued genetic testing throughout cancer survivorship care—but what about the concern that some test results will reveal information about potential cancer risks for which the patient can do nothing?

“That's a major issue and that's part of the emotional distress that can be associated with some of these decisions. Is it helpful to find out that you have a mutation with a very slight increased risk for a variety of cancers, but without a clear path to reduce those risks? That's something for the provider and the patient to consider before that testing.

“I don't think that testing is the right answer for every patient. What we want to emphasize [in the editorial] is that people get the right information to make the right decisions about what kind of testing is right for them.

“Hopefully as more and more research is performed, we'll get more information about ways to help patients and provide the results back in a way that isn't increasing the emotional burden during the survivorship period.”

3 The guideline is specific to breast cancer, but the title of your editorial and arguments throughout it are not. Is this rethinking about genetic testing applicable to other cancers besides breast cancer?

“We specifically did not want to imply that this was only an issue for breast cancer survivors. Genetic testing can be an issue for a variety of cancer survivors, and the results can have an impact on risks of cancer other than breast cancer.

“When you step back and look at the panoply of other mutations that are associated with the familial risk of cancer, it shows there are a variety of cancers for which this is relevant.”

Copyright © 2016 Wolters Kluwer Health, Inc. All rights reserved.
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