SACHA PFEIFFER, HOST:
Let's say someone in your family has had cancer. How would you know if it's the hereditary kind which could put other family members at an increased risk? The answer is genetic testing. But as NPR's Nell Greenfieldboyce reports, lots of people who should be offered it never hear about it.
NELL GREENFIELDBOYCE, BYLINE: A few years ago, Junius Nottingham was on a family vacation in Florida. His wife was there, his daughter and his son, Jeremy. Jeremy was 28 years old, over six feet tall, athletic, handsome. He had followed his dad into law enforcement and was working for the Secret Service.
JUNIUS NOTTINGHAM: And Jeremy told my wife that when he has a bowel movement, he bleeds a lot. So my wife said, well, it's probably hemorrhoids. When you go back to Birmingham, Ala., go see your doctor.
GREENFIELDBOYCE: His son did, and his parents were blindsided by what happened next.
NOTTINGHAM: We get a call the day after Jeremy went back saying that Jeremy had Stage 4 colon cancer. My wife and I are looking at each other like, what? What's going on?
GREENFIELDBOYCE: The next day, they learned the colon cancer had spread to Jeremy's liver.
NOTTINGHAM: So we're like, oh, my gosh. And then along with that narrative, we're all told that we have to go get tested for something called Lynch syndrome. I had never heard of Lynch syndrome in my life.
GREENFIELDBOYCE: Lynch syndrome is an inherited genetic condition. It gives you up to an 80% chance of developing colorectal cancer, plus an increased risk of cancer in other organs. No one had ever warned Junius Nottingham about hereditary cancer, even though his mom and his grandmother both died of ovarian cancer. He and his wife went to get tested.
NOTTINGHAM: And within a week, you know, it comes back that I have the gene. Wow. My son has Lynch syndrome, and I gave it to him (crying). That's a tough pill to swallow.
GREENFIELDBOYCE: The realization that he also was at significant risk made his doctor insist that he get a colonoscopy. Nottingham remembers the fog of coming out of anesthesia.
NOTTINGHAM: I'm trying to wake up, and Dr. Brown's like, you have cancer; you have to have surgery. I'm like, this is a bad dream. You know, I go outside, and I tell my wife, and then our world turned upside down again.
GREENFIELDBOYCE: Cancer is the second leading cause of death in the United States. Experts believe that about 10% of it comes from inherited genetic mutations. Lisa Schlager is with a group called FORCE, or Facing Our Risk of Cancer Empowered. She says while a couple of genes associated with breast cancer, BRCA1 and 2, have gotten a lot of attention...
LISA SCHLAGER: There are many, many other mutations that cause increased risk of cancers.
GREENFIELDBOYCE: The genetic cancer syndrome in Nottingham's family, Lynch syndrome...
SCHLAGER: Is actually more common than BRCA mutations. It affects 1 in 300 Americans.
GREENFIELDBOYCE: Now, genetic testing for hereditary cancer risk used to be expensive. But these days, the testing is way cheaper, often just an insurance co-pay or a couple hundred bucks. And a single test can simultaneously check dozens of genes related to cancer of the ovaries, brain, skin, kidney, pancreas, prostate.
TUYA PAL: Most people that should be getting the test are not.
GREENFIELDBOYCE: Tuya Pal is a clinical geneticist at Vanderbilt University Medical Center. She says even for the two well-known breast-cancer-related genes...
PAL: We're now approaching - what is it? - three decades since the discovery of those genes, and we still have only identified a fraction of the adult U.S. population that's at risk.
GREENFIELDBOYCE: Allison Kurian agrees. She's a cancer physician at Stanford University.
ALLISON KURIAN: There have been studies that have sort of looked at the significant cancer mutations and have estimated that maybe 5% of people in the U.S. are walking around with one.
GREENFIELDBOYCE: That's millions of people, most of whom are not aware that they have a genetic predisposition. Those who do find out often learn of it like Junius Nottingham did. A relative is diagnosed with cancer, gets tested, then tells the family. The trouble is the vast majority of cancer patients never get tested. Kurian and some colleagues just did a recent study looking at over a million people diagnosed with cancer in Georgia and California. Ninety-three percent did not get genetically tested. Kurian says it's almost hard for her to believe.
KURIAN: Because we did the study, I know that the data are accurate. I think it's just that, unfortunately, there's dramatic undertesting going on.
GREENFIELDBOYCE: If doctors were following the latest expert guidelines, they'd offer testing to everyone with ovarian, pancreatic or metastatic prostate cancer and consider offering it to everyone with colon or breast cancer. But Kurian's study found less than half of ovarian cancer patients actually got the testing. People with other cancers were even less likely to get it.
KURIAN: We found much higher testing rates for breast and ovarian than we did for, for example, endometrial and colon.
GREENFIELDBOYCE: So why are so few people getting testing? One issue seems to be a basic lack of knowledge among doctors about the latest testing, technology and science. David Dessert has a hereditary mutation in one of the BRCA genes. He's a long-term survivor of pancreatic cancer, and he moderates an online forum for people with this disease. It urges the newly diagnosed to pursue genetic testing.
DAVID DESSERT: And that is not a problem in the major cancer centers. But most people get treated at a smaller or regional center, and those doctors are not up on this or aware of it.
GREENFIELDBOYCE: Here's another problem. People may not realize that they have a family history of cancer because past generations often kept cancer secret. Susan Klugman is president of the American College of Medical Genetics and Genomics.
SUSAN KLUGMAN: You didn't want to talk about cancer in the family. You didn't even want to mention the C word. So therefore, their descendants may not know.
GREENFIELDBOYCE: Then there's the fact that people, including some doctors, may not appreciate that hereditary cancer syndromes can raise the risk of cancer in multiple organs. Junius Nottingham didn't know that ovarian cancer in female relatives could put him at a higher risk of colon cancer. That's why he now tells people...
NOTTINGHAM: If there's any history of cancer in your family, any history, go get genetically tested.
GREENFIELDBOYCE: That testing could even help people who already had cancer in the past. When I spoke to Klugman, she'd just seen a patient who had cancer a couple decades back. It was uterine cancer. That patient now has rectal cancer.
KLUGMAN: If someone who had seen her, even her internist, said, hey; you had uterine cancer at age 49; you should see genetics; you should get testing, we might have called that rectal cancer a lot sooner.
GREENFIELDBOYCE: Because someone who knows they're at high risk can take action, like getting a colonoscopy. When Junius Nottingham got one after being tested, his colon cancer was caught early. Surgery removed it. Unfortunately, his son Jeremy's cancer was more advanced and ultimately didn't respond to chemo. After two years of fighting it, he was tired.
NOTTINGHAM: He would be in excruciating pain, right? And he would look at me. And he was like, Dad, is everything going to be OK? I don't care if he's 30, 50, 60. I'm his father. I'm the problem-solver (crying). I'm the one that's supposed to say, yes, it's going to be OK. And I would tell him, Jeremy, yes, it's going to be OK.
GREENFIELDBOYCE: His son died a year and a half ago. Nottingham is now doing everything he can to raise awareness of hereditary cancer risk to try to spare others the kind of grief that he feels every day. Nell Greenfieldboyce, NPR News.
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