Armed with a new ability to see their own medical futures, Valley “previvors” are taking out doomed organs and body parts before they can take out them
BY JIMMY MAGAHERN
Published by: Scottsdale Times, May 2008
Sometimes Laura Pollard feels like a self-made Bionic Woman, only without all the supercharged replacement parts.
In the past four years, the 47-year-old Scottsdale mom has had her stomach removed, undergone a double mastectomy and, just for good measure last April, had her gallbladder taken out.
“My 17-year-old daughter says I’m not even human anymore,” says Pollard with a laugh, “because they’ve cut so many parts out of me!”
Even so, Pollard insists she’s never felt better, because she knows she’s beaten a genetic curse. Born into a family with a scary history of stomach cancer – her father, grandmother and half a dozen aunts and uncles had all succumbed to the disease – Pollard made the radical decision at age 43 to have her stomach surgically removed before the cancer could claim her, too.
After persuading eleven of her cousins to undergo the same testing and, eventually, the same surgery, Pollard and her kin became unlikely celebrities, joking about their “bad way to lose weight” on the Today Show, Good Morning America and Inside Edition – and rankling bioethics pundits and armchair patients who criticized the forty-something cousins’ over-eagerness to checkmate God.
Since then, having learned the same genetic mutation that threatened her stomach could also lead to breast cancer, Laura Pollard has gone back under the knife for a prophylactic double mastectomy. She’s currently persuading all the females in her family to have MRIs and consider mastectomies themselves.
“The day my genetic counselor confirmed that I had the mutation, my feeling was actually one of complete relief,” says Pollard. “I mean, we went to a dinner party that same night, and I had a great time! Because in the back of my mind, I always knew that I would die of stomach cancer – so many of my relatives had. Finding out for sure just meant I could finally do something about it and take my health into my own hands.”
Pollard is one of a growing number of “previvors,” as they call themselves: people with family histories of cancer or other life-threatening illnesses who are taking preventive measures – sometimes radical ones – to ensure the same genetic reaper doesn’t strike them.
Determining risk has become easier than ever, thanks to recent advances in DNA testing. For the first time in history, a person who has not been diagnosed with a disease can now discover whether or not they carry a genetic mutation predisposing them to it, and decide whether or not to treat or remove the organs at risk long before they’re actually infected.
But the ability to get such a spoiler on your own genetic destiny raises new concerns. For starters, doctors often don’t know what to do with the data, since ways of treating the mutations have not yet caught up to science’s ability to detect them. And families have become fragmented over the results, with those opting for surgery often pressuring those holding out for a cure.
“I’ve seen it cause a terrible rift in some families,” Pollard says, “because some members just don’t want to know.”
For Pollard, the decision to have stomach surgery was easier than deciding on the mastectomy, as the detected mutation predicted a surer possibility of infecting the stomach. There was also less chance of modern medicine finding a cure for her stomach cancer – a nagging concern for those weighing surgery over vigilant surveillance. “Breast cancer research is way ahead of stomach cancer’s,” Pollard observes.
Pollard is less certain, however, over what plan of action to recommend to her daughter, who carries the same chance of having the mutation.
“I hope there comes a time in the not-too-distant future that they do develop, if not a cure, at least some kind of gene therapy to treat this situation,” she says. “Because she’s so young, she’ll probably get tested in her early twenties. And if it comes down to the fact that she’ll have to have such drastic surgery, it’s okay with her. She’s seen her mother get through it.”
Subject to Interpretation
On the user-friendly Web site for DNADirect, one of the leading new entrants into the field of “personal genomics,” analyzing your genes for cancer risk sounds easier than getting a competitive rate on your auto insurance.
“We send you a test kit in the mail, complete with instructions for collecting your DNA sample,” reads the online pitch, which describes the test as little more than running a Q-Tip along the inside of your cheek. “You complete the test kit and send it directly to our testing lab. We notify you by e-mail when test results are ready. You log on to your secure account to view your Personalized Report.”
“It’s almost like trading a DVD through NetFlix,” jokes Cary Armstrong, a certified genetic counselor at Scottsdale Healthcare’s Virginia G. Piper Cancer Center, one of eight providers in the Phoenix area offering the same kind of analysis advertised by the San Francisco-based DNADirect.
Even in a hospital setting, the testing is fairly streamlined. Currently, only a handful of hereditary cancer types – breast, ovarian, colon, endometrial and pancreatic – can be predicted through genetics testing, and every hospital in the country, curiously, utilizes the same provider: Salt Lake City’s Myriad Genetics, which holds a patent on the technology. “We’re all waiting for that patent to run out,” confides Armstrong, who’d prefer the analysis be done in-house.
“The test itself is pretty simple,” Armstrong says. “It’s basically a tube for a blood sample and a FedEx mailer. But it’s how the results are analyzed that’s important.”
Like many in the genomics community, Armstrong is concerned about the growing commerciality in the field of DNA testing, which can typically cost the patient between $1,000 and $4,000. Besides DNADirect, other direct-to-consumer gene scanning services like deCODEme, Navigenics and 23andMe (the latter run by the wife of a Google founder) all promise to make personal genetic testing not only easy but fun. deCODEme even includes a blurb on its page stating its bargain $985 genetic scan is “not a clinical service to be used as the basis for making medical decisions” – although it can tell you how likely it is that your offspring will inherit your eye and hair color.
Problem is, many taking advantage of the new technology are indeed looking to make medical decisions based on the results – and not even the better general practitioners are equipped to analyze such data.
“Lately we’ve been getting people calling us and saying that their GYN or primary care physician has had them take these tests, and now they don’t know what to do with this information,” says Joyce D’Souza, a clinical nurse specialist at the Piper Center. “Because genetics itself is so dynamic, most (general practitioners) cannot provide advice on how to interpret that data.”
“We go to graduate school to learn how to analyze this information,” agrees Katherine Hunt, a board-certified clinical genetics counselor at the Mayo Clinic. “I get women who come into my office years after testing positive for the gene mutation predisposing them to breast or ovarian cancer who’ve just sat on those results, because nobody’s been able to tell them what steps to take next.”
Even a positive result doesn’t necessarily mean patients should start scheduling surgery – nor does a negative result mean they’re totally out of the woods.
“We don’t get a print-out that says, ‘At age 56, you will have breast cancer,’” Armstrong says. “It’s much more complicated than that. The test just tells us that this mutation has been identified, and that the patient is at increased risk to develop these kinds of cancers. So we spend a lot of time with the patient discussing all the interpretations of their results.”
On the rare occasions that a genetics test positively identifies a life-threatening gene mutation, Hunt says there’s “no magic protocol” for breaking the bad news.
“The surprising thing is, most people feel empowered by the information,” she says. “At first it validates the fears they’ve been living with, and then I usually see them go forward with a lot of positive energy. There’s a sense of control over what they’ve feared for so long.”
Sara Sanford was only 14 years old when she watched her mom die of ovarian cancer – the same disease that had already taken her grandmother, aunt and four other members of her family. She recalls worrying in the ICU whether the same fate lay in store for her.
“I remember her doctor looking at me and my sisters, saying, ‘Well, at least you guys don’t have anything to worry about,’” she says with a laugh, “‘because for sure they’ll be a cure for cancer by the time you grow up!’”
But when she underwent DNA testing last year and the results came back positive for presence of a defective gene known as BRCA1, which commonly raises the risk of developing breast cancer to between 60 and 90 percent, that same family doctor told Sara she had “no time to waste” in making a decision to have both a mastectomy and hysterectomy.
“I’m having them just take everything out,” says Sanford, now 27, who’s remained childless to prevent passing on her genetics. “I don’t want to sound negative, but I also don’t want to wait and hope for a cure that may never come. The fact is nobody in my family has survived cancer. And I’d kind of like to be the first!”
She’s scheduled for the surgery in two months and has so far kept it relatively quiet from friends. Sanford says there’s little support for young women opting to cut out potentially cancerous organs, which most leave to a combination of healthy living, medical science and divine intervention to cure.
“There’s mixed opinions, even in my own family,” she says. “I just don’t want to have people make judgments about me. My feelings about all this are fragile enough as it is!”
Dealing with information about your own genetic prospects can feel like returning from a Back to the Future trip with crucial information that could alter the time-space continuum.
In the recently published book Pretty Is What Changes, former Gilmour Girls writer Jessica Queller probes her own decision to have a double mastectomy after learning that she’d inherited a breast cancer gene mutation. “It’s akin to Eve taking a bite of the apple,” Queller writes. “Once you have the knowledge, there's no turning back.”
“I just kind of look at it positively,” says Sanford about getting the spoiler alert on her life, “because at least this is one fate I can do something about. I mean, I could get hit by a car tomorrow, but I know I won’t suffer through the same thing so many of the women in my family did. And that’s good enough for me.”