Genetic Testing for Cancer: Pros and Cons

Treatment // February 14, 2017

A cancer diagnosis comes with an overwhelming amount of decisions to make, from treatment paths to specialist selections. Now, thanks to exceedingly rapid advancements in genomic medicine, patients are typically also approached with genetic testing options at the time of diagnosis.

For more than a century, scientists have linked certain hereditary traits and gene patterns to cancers such as breast, colorectal and stomach. Today, noted mutations are known for a variety of cancers, including suggested links to mesothelioma.

Genetic Considerations in Mesothelioma

Memorial Sloan Kettering Cancer Center research connected inherited and acquired mutations of the BAP1 gene to mesothelioma. What’s more, they discovered manipulation of this gene triggered growth of EZH2, prompting rapid advancement of mesothelioma cells. This may open new treatment opportunities.

“Now that there’s a biological rationale for why these drugs would work in mesothelioma, this could be a tremendous innovation for patients,” said Memorial Sloan Kettering medical oncologist Marjorie Zauderer.

Yet despite the positive possibilities of advanced treatment paths, the issues of genetic links and genetic testing has been not as clear cut for many patients and their families.

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A January 2016 study by the Harvard T.H. Chan School of Public Health showed that only 6 percent of adults surveyed had undergone any sort of genetic testing. Of those who had, 18 percent were using the testing to gain further information about their own health issues, yet 35 percent and 25 percent underwent testing to foresee health issues for their children or to learn about their heritage respectively.

Although the number of those seeking genetic testing appears low now, it may not be that way in the future. The same study reported that 56 percent of Americans held an interest in testing should a health condition such as cancer or Alzheimer warrant it.

Common Concerns Surrounding Genetic Testing

If people are interested in genetic testing and they feel it could hold some keys to advanced therapies, why do some still have reservations about the topic?

Privacy is one reason. Although the Genetic Information Nondiscrimination Act (GINA) has been in effect since 2009, and parts of the Affordable Care Act included provisions protecting genetic information, many still fear the results could be used against them by employers or health insurance providers. Also, the law has at least one big loophole: GINA does not apply to employers with 15 employees or fewer. It also does not provide any protection from decisions made by insurance companies.

Another issue discouraging some patients is cost of getting tested – although those costs seem to be declining. By 2014, the National Institutes of Health announced that an entire human genome could be sequenced for less than $1,000.  Since then, prices have continued to fall among certain tests, as the field expanded through multiple biotechnology companies. As long as testing technology continues to improve and become more efficient, the cost to get tested will likely continue to fall.

However, the biggest hurdle to clear is the perception problem. Genetic testing now features prominently in the life of breast cancer patients as more specific genetic mutations have been found to either better predict the disease or personalize treatment options. According to, the burden placed on diagnosed individuals adds worry when deciding whether to involve their family. Patients can go through guilt, anxiety, fear and resentment that can lead to divisions among close relatives. It can be a two-way street, with some family members pressing the patient for testing while patients look to share information that others seem hesitant to receive.

“We do hear stories like, ‘I ask her every time I see her,’ ‘I can’t ask her anymore,’ ‘She is getting angry at me,’” Sue Montgomery, a genetic nurse navigator with the Family Risk Assessment Program at Fox Chase Cancer Center in Philadelphia told “It can be a source of family discord. There have been cases where we just go ahead with the testing based on family history.”

Opportunities for Personalized Care Advancement

Still, when it comes to cancers such as mesothelioma, even though the cases of genetic links may be fewer than those of other cancers, researchers still feel there is a reason to hope additional testing can cause better outcomes.

“When you have a cancer that has an 80 to 90 percent mortality rate within five years of diagnosis, and you discover evidence that a small percentage of people may have actionable mutations, that means that you could reduce mortality,” said Raphael Bueno, chief of the Division of Thoracic Surgery and co-director of the Lung Center at Brigham and Women’s Hospital in a Science Daily interview. “Even for a mutation that happens one to two percent of the time, it could mean the difference between life and death for a patient.”

If you’re considering genetic testing, your best source of guidance may to speak with your medical team, who can address your concerns in context of your diagnosis and presented family history. This can help you make the most informed decision based on the specific diagnosis and care plan.