The Lynx Group

More Genetic Testing Needed in Breast Cancer

June 2020, Vol 11, No 3

Miami, FL—With too much red tape regarding genetic (ie, hereditary) testing, not enough people are being identified before they have breast cancer, according to Kevin Hughes, MD, FACS, Co-Director, Avon Comprehensive Breast Evaluation Center, Massachusetts General Hospital, Boston.

More than 620,000 colorectal, pancreatic, breast, uterine, and ovarian cancer diagnoses are expected in the United States this year alone. Dr Hughes estimated that if 10% of these cases are hereditary, then 62,000 cancers could be prevented in the United States annually through genetic testing.

“This is really the problem we need to solve,” he pointed out at the 2020 Annual Miami Breast Cancer Conference. “We’re really failing miserably at finding these patients and taking care of them before they develop cancer.”

With the introduction of whole genome sequencing, the use of genetic testing increased greatly in recent years; the cost has dropped to approximately $300 in 2020, Dr Hughes said. So why aren’t we testing everyone?

“We’ve got to get over this cautious approach to genetics that’s really holding us back,” Dr Hughes noted. “While mandatory genetic counseling is partly to blame, it’s not the most important thing.”

Traditional Genetic Testing

Under the traditional approach to genetic testing, any provider can identify a patient who should have genetic testing done, but only a specialist (most often a genetic counselor) can test for and then manage a person’s hereditary risk for cancer.

“This model is outdated, and why is it a problem? The testing backlog,” said Dr Hughes. “Thirteen million women in this country need genetic testing, and only about 2 million tests have been done in the last 24 years and almost all of them need to be redone.”

Healthcare providers often recognize the importance of genetic testing, but as a result, the high demand for genetic counselors is now surpassing the supply. For example, Dr Hughes said to schedule an appointment with a genetic counselor at Massachusetts General Hospital a person can wait 4 months or more. “We don’t have enough genetic counselors, and we’re missing opportunities,” he added. “We absolutely need to get out there and find patients who need testing.”

Restricting Testing Is a Barrier

According to Dr Hughes, if we loosen the restrictions on genetic testing in the United States, all providers (not only genetic counselors) can help to meet the demand for testing; the good news is, signs are now pointing to that becoming the new norm.

With this new type of model, any member of the treatment team can identify individuals for testing and send them for it, with a specialist only coming on board to perform risk management.

Dr Hughes noted that he tells cancer care providers to “get out there and test early and often,” adding that we need to “move beyond the ‘genetic testing is dangerous’ era into the ‘genetic testing is good medical care’ era.”

“The small percentage of patients who test positive need the care of those well-versed in genetics, but most patients can undergo testing with minimal pretest counseling,” Dr Hughes said.

New Trends in Genetic Testing

There’s even a movement toward patient-controlled testing. A research study called Making Genetic Testing Accessible (MAGENTA) is looking at the effects of online genetic education and telephone-conducted genetic counseling. On M.D. Anderson’s webpage dedicated to MAGENTA, the study is described as “genetic testing from your living room” with the goal to “save more lives by preventing cancer in women found to be at an increased risk of getting it.”

Another program comes from the Jewish Telegraphic Agency, which is conducting a study of cancer risk in Ashkenazi Jews. Patients simply sign up online and can choose to receive their results from a primary care provider.

Dr Hughes and his colleagues have developed a tool to make genetic testing even easier, called All Syndromes Known to Man Evaluator (ASK2ME;

The calculator allows doctors to enter a person’s genetic mutation, sex, age, cancer history, and surgical history. Then, for each gene, the site describes the patient’s risk for cancer compared with the general population’s risk.

He is hopeful that more advanced computer-based tools will soon allow better management of patients with a genetic risk for cancer.

Related Articles

Subscribe to
Value-Based Cancer Care

Stay up to date with personalized medicine by subscribing to receive the free VBCC print publication or weekly e‑Newsletter.

I'd like to receive: