1. DiGiulio, Sarah

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The time is now for population-level screening for hereditary cancer susceptibility mutations. That's the argument from Kevin S. Hughes, MD, FACS, Co-Director of the Avon Foundation Comprehensive Breast Evaluation Center at Massachusetts General Hospital, Boston, who penned a recent editorial in the Journal of Clinical Oncology (2017;35:3789-3791).

Kevin S. Hughes, MD,... - Click to enlarge in new windowKevin S. Hughes, MD, FACS. Kevin S. Hughes, MD, FACS

"Our problem, which desperately cries out for a solution, is that huge numbers of high-risk patients who could be identified by genetic testing are instead developing cancer and often dying of that disease," writes Hughes, who is also Associate Professor of Surgery at Harvard Medical School and Medical Director of the Bermuda Cancer Genetics and Risk Assessment Clinic.


Hughes' article is published in the same issue of JCO as a recent study that estimated the rate of patients in the U.S. who are at high risk of having heritable mutations that have been linked to breast or ovarian cancer and who have not been tested for those mutations (2017;35:3800-3806). That research, led by Christopher Childers, MD, a resident physician in the Department of Surgery at the David Geffen School of Medicine at UCLA, found that fewer than one in five individuals with a history of breast cancer or ovarian cancer who meet the National Comprehensive Cancer Network criteria for testing have actually undergone genetic testing-and most patients had never discussed genetic testing with a health care provider.


"Genetic testing is becoming the norm for medical care, whether it be cancer susceptibility, susceptibility to 'benign' genetic diseases (such as cardiomyopathy, etc.), risk of genetic diseases in newborns, pharmacogenetics, or somatic mutations in tumors," Hughes told Oncology Times. "Our failure to get the right patients [in oncology] tested requires a major change in our approach."


Here's what else Hughes shared about why this issue is so urgent.


1 Were you surprised by the findings from Childers et al.? Why is addressing this underutilization of genetic testing in cancer so important now?

"They are not surprising. Huge amounts of ink have been spilled on the risks and harms of cancer genetic testing. Little has been written about how poorly we were actually doing bringing this major aspect of medical care to our patients. The end result has been caution and slow uptake of a lifesaving test.


"Tremendous good could be done if everyone who needed cancer genetic testing was tested and managed appropriately. Our current system concentrates so strongly on the possible harms of testing and the complexity of testing that we lose sight of the benefits.


"It is time to do this. The world has changed. DNA sequencing is cheap and getting cheaper. Childers' paper shows how poorly we have done and that, simultaneously, the genetics professionals are about to be bypassed by inexpensive and ubiquitous testing. Tumor sequencing, whole genome sequencing, panel testing, whole exome sequencing, and direct-to-consumer testing are about to wash over the current pre-test counseling system and make it obsolete.


"Testing will be the norm and everyone will have it done. We need to understand that and get ahead of it, not try to stop it."


2 You argue that the benefit of genetic testing is well-proven. What are the main reasons (given its proven efficacy) it has not been more widely utilized?

"We have concentrated on purported harms and tried to block use of the test at the population level. It is obvious that some cases will be managed incorrectly whether tested by a physician or a genetic counselor. The media and the literature concentrate on a hand full of cases where something was done wrong. Tremendous attention was paid [for example] to a case where a woman had her breasts and uterus removed inappropriately. This is a case where education and support of physicians doing testing was sorely needed.


"The vast majority of the hundreds of thousands of patients tested were managed appropriately, but this case is what is used to dissuade patients and doctors from testing.


"[And] requiring every patient see a genetic counselor before testing is a major barrier. In cities like Boston, it [can take] months to see a genetic counselor (if you do not have cancer)-and requires taking more time off from work and making another trip into the hospital. In rural areas, it might take hours to get to a counselor. Phone counseling is available, but is not used extensively. Testing at the point of care would markedly increase uptake. As best I can tell, cancer genetic testing is the only area where seeing a counselor is felt by some to be required before testing. Prenatal testing, neurologic genetic disease testing, cardiac genetic disease testing, tumor sequencing, and pharmacogenomic testing are done mostly by physicians and genetic counselors to help as needed, such as when tests are positive."


3 What are the next steps that help solve this problem?

"Testing at the point of care would markedly increase uptake. We need to educate physicians regarding the benefits of testing and the need for testing. We need to educate physicians in how to test appropriately rather than tell them they are not able to test. We need decision support tools to help physicians and genetic counselors keep up with the rapid changes (see the tool


"But we also have to realize that genetic testing is going to become ubiquitous whether we take the lead or not.


"All aspects of the practice of medicine require a knowledge of genetics. Physicians must assure that their patients get the correct genetic test in a timely fashion and that that information is used to benefit them by helping choose the proper screening, the proper preventive measures, and the proper use of medications. This is not a turf issue, it is good medical care."