As a registered nurse, Tiffany Jones knows better than to jump to the worst-case scenario. But as the mother of two young boys and one of many in her extended family who carries an inherited mutation causing a familial cancer known as Lynch syndrome, she struggles some days not to perceive her 5-year-old son’s migraines as something far scarier.
An uncle of hers, she notes, was diagnosed with glioblastoma brain cancer at age 53, one of many Lynch-related cancers that has stalked her father’s siblings. “It’s always in the back of your mind,” says the 39-year-old mother, who lives in northeastern Tennessee.
Her son has already gotten bloodwork to rule out any contributing factors, such as low blood sugar, and he’s taking allergy medication to see if that heads off the migraines. Jones tries to reassure herself that her son is young. None of her aunts or uncles were diagnosed before age 50. Even so, if the medication doesn’t work, she says, “then we’re probably going to do an MRI just to make sure that nothing’s there, nothing’s wrong.”
As more people test positive for a laundry list of genetic risks, whether for high cholesterol or Huntington’s disease, they, like Jones, who learned of her own Lynch mutation in 2012, will be called on to process and incorporate that knowledge into their lives. They may have to cope with related uncertainty for decades.
The good news is that some research indicates that many people appear to be innately resilient to bad news. One New England Journal of Medicine study, looking at people who tested positive for a mutation that boosts the risk of Alzheimer’s disease, didn’t find evidence of clinically significant anxiety or depression in the people who had received this information, even as long as a year later. But emotional ripple effects can appear and persist, according to another study, whch appeared in the Journal of Clinical Oncology. It assessed distress at least four years after women got their BRCA results, and found that 45 percent of those women who tested positive reported at least some degree of distress.
It might be that psychological screening tests don’t pick up on the diverse, more subtle, but still potentially influential, ways that genetic knowledge can “hang over people’s heads,” says Andrea Farkas Patenaude who directs psycho-oncology research and clinical services at the Dana-Farber Cancer Institute’s Center for Cancer Genetics and Prevention. “We’re not asking the right questions,” she says.
Individuals might not be debilitated to the point that they can’t work or function, Patenaude says. But in meeting with those who test positive, she picks up on low-level yet sometimes simmering concerns. She describes such concerns as “the anxiety about ‘What do I do next? And how do I make these decisions?’ The sort of lifelong shadow that they live with as they cope with their own decisions.”
A Rorschach Test
Worries about test-related trauma stem from the early days of screening for Huntington’s disease some two decades ago, in which a positive mutation result guarantees the eventual development of the debilitating and fatal disease, Patenaude says. Some of those who tested positive spiraled into a severe depression, and there were suicide attempts.
In the years since, as more disease-related mutations have been identified, including ones for cancer, “that has not proven to be the typical way that people receive this news,” Patenaude says. Still, people don’t get genetic results in a vacuum, say Patenaude and other mental health professionals. Instead, they interpret the findings through their own highly individual prism of life experiences, social support, family circumstances, and emotional makeup.
Some people might already be prone to anxiety or depression, and worrisome genetic test results might aggravate those tendencies, Patenaude adds. Conversely, she says, the information might lead other individuals to embrace life and its decisions head-on. “In some ways, it makes life more precious, because you are being told that there are risks and threats to your existence,” she says.
Information processing styles can make a difference. Some people are seekers, and perhaps that’s why they sought genetic testing in the first place, Patenaude says. “Sometimes it [the genetic finding] helps them. But sometimes it just leads them to the next question,” she says.
Not surprisingly, the broader family context matters. People like Jones, who can already trace a family cancer tree, might be braced for a positive result when they seek genetic testing, says Laura Koehly, a senior investigator at the National Institutes of Health’s National Human Genome Research Institute. Plus, they will hopefully have more people to lean on and talk to as they process a positive finding, says Koehly, who has conducted a lot of research looking at genetic risk.
Koehly co-authored one 2013 study, which appeared in the Journal of Genetic Counseling, that looked at families with a history of Lynch syndrome. It found that those families who expressed a higher degree of existential well-being — a broader sense of life purpose and satisfaction — experienced fewer symptoms of depression. “There really is this resilience factor that’s associated with having this higher life purpose,” she says, “that impacts how you frame and view the mutation that’s running in the family.”
As Patenaude counsels patients, she reminds them that their feelings might ebb and flow through the years, depending on where they are in their lives and how this information might affect pivotal decisions about careers or relationships. Susan McDevitt, the executive director of Lynch Syndrome International, echoes that sentiment, describing a woman with a positive Lynch result she spoke with recently who was about to get married.
“She wants to think about kids,” McDevitt says. “And the clock is ticking for her age-wise. But this is a really big factor for her. She’s so, so afraid that she’s going to be responsible for passing this mutation along.”
Dave Wortman, Jones’s 65-year-old father, says that he still feels lingering guilt that he unwittingly passed along the Lynch mutation to Tiffany and thus potentially to his grandsons. His other daughter tested negative.
He’s one of seven siblings on his father’s side, four of whom have been diagnosed with cancer — colon, stomach, liver, and glioblastoma brain cancer — some, multiple times. Two of the four have died since 2009. Another sibling, who died in 2013, is also believed to have had cancer, Wortman says.
If a parent has a mutation, the child’s risk of testing positive is 50:50. (Since Wortman’s mother tested negative, his deceased father is believed to be the carrier.) Wortman and his siblings have beaten those odds, but unfortunately, not in a good way. Of the six who have been screened, all but one proved to have inherited the mutation.
Wortman, a carrier and still cancer-free, has strived to be positive and proactive. He’s gotten involved with boosting awareness about Lynch syndrome. He’s supported his family members as they’ve weathered treatment.
But he did put his retirement plans into fast forward after the third of his siblings died in 2013. “I’m looking at all of this and thinking, Geez, my days are numbered.”
He’s shutting down his financial advising business at least five years earlier than he had initially planned. “Somehow, for some reason, it has passed me by,” he says. “I’m thankful for every day the Good Lord gives me another healthy day. It does play on your mind a bit.”
Results and Reframing
Some genetic findings are definitive, such as those for Huntington’s disease, but other results can frequently return in shades of gray, says Robert Klitzman, a psychiatry professor at New York City’s Columbia University and author of Am I My Genes?: Confronting Fate and Family Secrets in the Age of Genetic Testing.
“It’s hard to know what to do with some genetic information, because it may give you an uncertain or unclear picture,” Klitzman says. For example, if you are told that your risk of one day developing a particular disease has increased from 10 to 20 percent, he says, “What do you do with that?”
Adeline Denniston faced a particularly murky path when she learned in early 2014 that her BRCA2 results were classified as VUS, an acronym for “variation of unknown significance,” which occurs in 3 to 5 percent of BRCA tests.
“They don’t call it a mutation per se — they call it a variant,” says Denniston. It’s an outcome that left the 37-year-old Washington state resident with more worries than answers.
“Does this change mean that I have an increased risk? Does this change mean that I don’t have an increased risk? All I knew was that this can’t be good because of the amount of cancers in our family,” she says.
Despite the genetic uncertainties, Denniston decided early this year to undergo a preventive mastectomy. The fallout hasn’t been entirely difficult, she says, describing herself as more fearless these days. Despite not having any management training, she lobbied successfully for an office manager job in the clinic where she’s worked for years as a veterinary technician.
She’s also become more assertive in personal interactions. “Since facing the fact that there is a potential increased risk of having cancer, I realize that there are a lot of things that I will stand up for now and not allow myself to be pushed around,” she says. “I don’t take a backseat to myself anymore.”
Some people can gain a new lease on life, says McDevitt, who recalls one man who returned to school to study genetics after he got his results. But she also describes worrisome conversations in which those who test positive describe feelings of very deep despair.
Some people find that their focus on genetic risk becomes too intrusive. “If you’re feeling like you can’t stop thinking about it,” you should seek additional help or support, Patenaude says.
For other people, getting more information might ease their minds, she says. Another avenue is to seek out a mental health professional or community support through a group, either in person or online. A genetic counselor might be able to suggest someone with the same genetic risk to talk with, ideally someone at a similar stage of life, Patenaude says.
As Jones moves forward, juggling her work and raising her family, would she rather not shoulder the genetic knowledge that she now carries? Absolutely not, she responds. She’s been able to take advantage of more aggressive screening. Once she turns 40, she’ll get colonoscopies even more frequently, once a year, following in her father’s footsteps.
If her family had known sooner about the familial genetic mutation — specifically MLH1 — that runs on her father’s side, perhaps the life of at least one aunt could have been saved, Jones points out. “It’s still scary every time you get ready for the [screening] appointment,” she says. But she hopes that scientific advances and proactive screening will save many of her loved ones, including one day, her own father.