Familial cancer registry could save lives

How understanding your family tree allows U scientists to assess cancer risk

Do you have an increased risk for cancer? Maybe two of your sisters got breast cancer, or both your dad and your granddad had colon cancer. But does that mean you’re next in line?

In recent years, experts at the cancer risk management team—part of the Masonic Cancer Center, University of Minnesota—have made huge strides in helping people answer those critical questions. These doctors, research­ers, and genetic counselors know that understanding your cancer risk can translate directly to a better health out­come, whether through prevention or early intervention.

Consider what we already know: Between 5 percent and 10 percent of all cancers are caused by abnormal genes inherited from a parent. These mutated genes cause more than 50 known cancer syndromes, including some breast, ovarian, colorectal, and prostate cancers. However, even if you’ve seen your mom and two aunts die of colon cancer, that doesn’t mean you will get colon cancer. But what you should get is genetic counseling.

Understanding risk

In their quest to fight cancer more effectively, scientists at the U know that information is key. That led them to establish the William C. Bernstein, M.D., Familial Can­cer Registry, which opened in 2008 with a $1 million anonymous donation given in the name of Bernstein, a surgeon who pioneered the development of the University’s colon and rectal surgery residency program in the 1950s.

The registry, originally designed to enroll people with hereditary and familial cancers, has now morphed into a multifaceted operation that also does clinical research, genetic counseling and testing, and outreach designed to educate people about the importance of genetic counseling and testing.

“We know there are many people out there with unrecognized risks,” says Robert Madoff, Stanley M. Goldberg Endowed Chair in Colon and Rectal Surgery and director of the Bernstein Registry and the Cancer Risk Management Program. “But sometimes the people who are most fearful are actually at just average risk for cancer. If, through genetic testing, we do find out some­one carries a greater risk, there are very specific things we can do.”

The Bernstein Registry initially enrolled 500 pa­tients, getting extensive family histories from people who have some sort of familial cancer. With that data in hand, researchers are now investigating several related questions.

“One thing we’ve studied is why people don’t always go on to get genetic counseling once they understand that they may be at higher risk for a familial cancer,” says Kristin Niendorf, a genetic counselor and coordi­nator of the Bernstein Registry program. “What are the barriers to seeking that counseling?”

Typical stumbling blocks seem to be confusion about the process, concerns that counseling and testing may be time-consuming or expen­sive, or even a belief that discovering a specific risk factor won’t make a difference. Registry staff have moved quickly to address these concerns, replacing the old paper form with an easy online family-history questionnaire, which people can fill out at home. They’ve also stepped up educa­tion efforts; in one project, two University research­ers—gynecologic oncologist Melissa Geller and social work professor Hee Yun Lee—have developed a cell phone app that educates ovarian cancer patients about genetic counseling.

Personalized treatment

In the case of ovarian cancer, in which 25 percent of cases are hereditary, genetic testing can potentially save lives. That’s why Madoff recommends that all women diagnosed with ovarian cancer take part in genetic counseling. “If we find that the patient does indeed carry the mutated gene, that knowledge is crucial to other women in the family—sisters, daughters, granddaugh­ters, nieces—who might also carry the gene,” he says.

That’s where the ripple effects of good family medical histories can be felt. “If those related women then get genetic counseling,” Madoff says, “we can identify which ones carry the gene and dramatically re­duce their cancer risk by intervening early.”

As part of the University of Minne­sota Health Cancer Risk Management Program, which began two years ago, genetic counselors meet with clients and review family history to develop a risk assessment. They look for red flags: multiple cases of a particular cancer in the family, rare cancers, cancers known to be associated with hereditary risk. This office visit, says Niendorf, is often covered by insurance. The counselor may then recommend test­ing—a simple blood draw—to identify risks that will allow doctors to develop a specific care plan designed around those risks. While many genetic blood tests are available, good genetic counseling up front guides the process and helps pinpoint the type of tests needed.

Madoff adds that while genetic testing has been available for years, new tests are being developed all the time; consequently, the Bernstein Registry follows enrollees over time and alerts them if they need to be reassessed for new risk factors.

“We’ve evolved from an era where everybody gets the same cancer treatment to an era where treatment is much more personalized,” explains Douglas Yee, director of the Masonic Cancer Center, University of Minnesota. “That is why cancer registries play such an important role; they enable us to study the family history, find out exactly why your risk is higher, and decide what to do about it.”

Forefront of the fight

“If you’re ever asked to participate in a registry, I encourage people to do it,” says Yee, who practices what he preaches; he and his wife recently volunteered to enroll in a cancer registry. “These registries are extraordinarily important because we need to follow as many people as possible—not because you’re sick, but because the more we can study large populations over time, the better we become at understanding risk and identifying markers. With this information, we can craft better public poli­cies and save lives.”

Yee also urges Minnesotans to watch for the roll-out of a brand new University cancer registry—dubbed the 10,000 Families Registry, with a nod to the state’s 10,000 Lakes moniker.

“When the ultimate goal is to end cancer,” says Yee, “one of the best strategies is to never allow the cancer to devel­op. So risk assessment is at the forefront of the fight.”

Barbara Knox is a Twin Cities freelance writer.