FEATURED , Risk Assessment , Genetic Testing

Peter D. Beitsch, MD/

Is Genetic Testing Ready for PrimeTime?

Should we start using genetics routinely as a screen for early disease prevention?

In an editorial by Dr. Kevin Hughes, he points out the dilemma that we have put ourselves in regarding genetic testing as a disease-preventive measure. He sets the stage with numbers showing that genetic testing for early detection of disease, especially cancer, can prevent the disease from occurring in thousands of patients.

Is genetic testing is ready for prime time-433780-editedAs one example of many that he shares, “To put the impact of this underutilization of genetic testing into perspective, consider the cancers for which genetic testing is most common: breast, ovarian, endometrial, and colorectal. There will be 535,370 cases of these cancers in 2017 in the United States. (1) If 5% of them are hereditary, approximately 26,000 patients will develop cancer that likely could have been prevented or discovered at an earlier stage in 2017 alone.”

After demonstrating with several examples how acting on genetic test results can truly prevent disease from occurring, Hughes then provides a brief history of why those who should be screened currently are not. The reasons included the initial high cost, the requirement for genetic counseling, as well as societal concerns such as loss of insurance or learning about carrying a disease without an available treatment, along with other worst case scenarios.

So now, 20 years later, “the value of genetic counseling is not being disputed, the costs have plummeted and the utility of testing is obvious” claims Hughes.  “The question is, is it realistic to expect all physicians to be facile with genetics? The answer is, they will have to be. It will soon become impossible to practice medicine without genetics.”

Some studies have shown that primary care physicians can be trained in 6 hours to be able to give informed consent, order appropriate testing, interpret results, and arrange management or know when to refer for cancer genetic testing. This may need to be incorporated into practice guidelines and medical school curricula in order to become a routine part of the patient’s history and physical.

“Our problem 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. It is time to move to population-level screening for hereditary cancer susceptibility mutations. We have thought about this for 20 years. It might be time to take action,” concluded Hughes.

Post Script from the TME team: “You go Kevin!”

1 - American Cancer Society. Cancer Facts & Figures 2017. Atlanta, GA, American Cancer Society, 2017

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