SALT LAKE CITY — A terminal colon cancer diagnosis for Dov Siporin not only left him fighting for his life, but it forever changed the lives of anyone in his genetic line.
"My children are definitely at high risk for it now," the 39-year-old victim of colon cancer said Wednesday. Unconventionally, Siporin's two kids, now ages 6 and 9, will undergo colorectal cancer screening at age 23, as their father was diagnosed at age 33.
Siporin's brothers are also encouraged to be more vigilant about getting routine colonoscopies, which screen for cancer of the colon.
"Regardless of a patient's age, if polyps or adenomas are found, their relatives are at a higher risk for developing polyps or colon cancer," said Dr. Jewel Samadder, a researcher at the Huntsman Cancer Institute at the University of Utah. Samadder is the author of a study that further quantifies the increased risk to first-degree relatives (parents, siblings and children) of patients found to have the precancerous lesions in their colons.
Investigators integrated numbers collected as part of the Utah Population Database, Utah Cancer Registry and genealogical records from The Church of Jesus Christ of Latter-day Saints to determine the role of hereditary risk factors.
In the largest population-based study to date, researchers made their findings based on 126,936 people screened at Huntsman Cancer Institute and Intermountain Healthcare facilities between 1995 and 2009.
What they found was that up to 10 percent of colorectal cancers could be missed when current national screening guidelines are followed.
"We expected to see increased risk in first-degree relatives, but we weren't sure the risk would also be higher for more distant relatives in multiple generations," Samadder said. "The biggest surprise was the percentage of missed cancers under the current guidelines. We figured there would be a few percent, but 10 percent is a large number."
For the general population, current screening guidelines, set forth by the U.S. Preventive Services Task Force, recommend colonoscopy screening every 10 years, starting at age 50. For first-degree relatives of people diagnosed with colorectal cancer or advanced adenomas (precancer) before age 60, increased screening is recommended — colonoscopies every five years, starting at age 40.
The screening recommendations for more distant relatives of people diagnosed before age 60 and for all relatives of people diagnosed at or after age 60 are the same as for the general public.
The Huntsman Cancer Institute study, published online in the recent edition of "Early View" in the journal Cancer, supports those guidelines but also raises the issue of whether more aggressive screening should be considered, Sammader said.
He said people might be falling through the cracks when any familial risk for cancer is ignored.
While the study substantiated an increased risk for first-degree relatives, it also detected smaller percentages of elevated risk in more distant second- (aunts, uncles and grandparents) and third-degree relatives (cousins, nieces and nephews, great-grandparents).
More than 40,340 Americans will be diagnosed with colorectal cancer this year, and about 50,830 will die from the disease, which is the third most common cancer in the country for men and for women, according to the American Cancer Society.
Thanks to standards of care and colorectal cancer screenings, polyps can be found and removed before they turn into cancer. And colorectal cancer can be found earlier when it is easier to cure, as Sammader said there is an 80 percent survival rate for patients who receive an early diagnoses.
There is a less than 30 percent survival rate when cancer is caught in its later stages, perhaps having spread to other organs or lymph nodes, he said.
Siporin was diagnosed with cancer in January 2008, just months after he first noticed blood in his stool. He said the finding scared him, "but I didn't say anything to anyone about it at the time."
Upon notifying a doctor of the symptom, cancer was not even considered at first, as Siporin was young and had no known family history of the disease. Relatives of his had died of other types of cancer, but not with colon cancer, as far as he knew.
Since the diagnosis, however, Siporin has endured about 6,000 hours of chemotherapy, eight invasive surgeries and a total of three months of radiation. He is still doing chemotherapy every other week and is trying to balance the difficult treatment regimen and his quality of life.
"I tell people it is so much better to find out something early on, when they can take care of it, than to go through even one day of what I've gone through," Siporin said. He counsels others to get routine colonoscopies regardless of age.
"It is just one of the things you do if you care about the people around you," he said. "If you care about your family, if you care about your kids, you go and get this done. Delaying it won't make things better."
Siporin was healthy and active up to his fateful diagnosis, and he does whatever he can to remain that way still, even running marathons and the occasional triathlon between treatment schedules. Huntsman Cancer Institute has been his second home for the past six years, as he's done everything he can to fight his cancer.
"I do my best to enjoy every minute that I have," Siporin said. "I know that I could be gone in a matter of weeks."
The prevalence of colon cancer in Utah is similar to that in other states, but Sammader said "where we excel in Utah is with prevention."
The Huntsman Cancer Institute and Intermountain Healthcare facilities throughout the state perform 85 percent of all patient care in Utah, which helped make Sammader's study possible, as records between the institutions are shared. It is also state law for hospitals to report any cancer diagnoses to the statewide registry, which is housed at the Huntsman Cancer Institute.
"No other study has combined genealogical and cancer data with records from two major health care organizations which have integrated electronic patient data," he said, adding that church genealogy records also gave him a unique edge.
"No other state has such a great registry that defines family relationships," Sammader said. Most research relies on patients' self-reported information, which he said is not always accurate.
Sammader expects the standards of care only to increase, as the recently implemented Affordable Care Act essentially covers the costs of anything preventive, including colonoscopy screening. Various programs are also available to patients to help subsidize the cost, which is several thousand dollars for one screening test.