There are precious few tests in medicine, save pregnancy perhaps, where a positive test result is good news. Particularly in the realm of genetics, testing positive for a mutation is often devastating, portending gloomy days of sickness ahead.
But there is help out there for people with a positive genetic test result, as well as something of a protocol for them to follow so they feel empowered moving forward.
After Cassie Barnes’ third miscarriage, her doctors ordered extensive blood work that involved genetic screening. One of the unforeseen results of the test was that Barnes, who lives in Cincinnati, was a carrier for the genetic mutation that causes cystic fibrosis, a debilitating condition that people often die from before they turn 40. Barnes, now 41, had once watched a fellow graduate student suffer from it, so even though Barnes was only a carrier of the condition, and not at risk for suffering from it herself, the thought of passing it to a child someday scared her.
But Barnes, who works in development communications for Cincinnati Children’s Hospital, knew the CF mutation is a recessive gene – meaning “it takes two to tango.” Her husband tested negative for the gene, giving the couple the confidence to continue trying to get pregnant. When that happened, and their daughter Genevieve was born, the infant tested borderline – and “trending for positive,” Barnes says.
“The genetic counselor called me later that night to reassure me that borderline doesn’t mean positive,” Barnes says. Genevieve underwent further tests at 3 and 6 months old, and the genetic counselor was right by her mother’s side.
“Not only can [counselors] help you understand the science, the odds and the prognosis. They can help you process things emotionally,” Barnes says. “My husband and I talked all the time, but [talking to each other] fed our fears. Having somebody outside the whole situation was really helpful to me.”
Ideally, high-risk patients would consult a genetic counselor before they even get tested, says Robert Klitzman, a professor of psychiatry at Columbia University who also teaches bioethics. “You have to think through the decision to get tested,” he adds. You wouldn’t, for example, just decide to test for Huntington’s disease on a whim, adds Steven Hersch, a neurology professor at Harvard Medical School. “We make people take their time with it so they can do it and not regret it once it’s done,” Hersch says. “It’s important they understand why they’re doing it.”
Robin Bennett, a genetic counselor at the University of Washington Medical Center in Seattle, says genetic counselors field the myriad questions patients invariably have, from how the result will affect other family members, to how to prevent or help treat the condition, to whether or not they could face discrimination because of the result.
Bennett, for example, may refer people who test positive for the BRCA genes linked to breast cancer to specialists in cancer screening or prevention, just as she would send someone testing positive for the Huntington’s disease gene, a rare but devastating neurological condition, to a neurologist specializing in early disease onset. She also refers them to support groups – either online or in person.
The genetic counselor can also guide people as they discuss the information with relatives – both close ones like children, and distant relatives with whom the patient hasn’t been in touch for years.
Informing the Next Generation
Broaching the subject of if and when children should be told about their parents’ positive genetic results is usually a big concern.
When Barnes’ 2-year-old daughter Genevieve was 6 months, she finally tested negative for having cystic fibrosis. But as a carrier of the genetic mutation, she can pass that on someday if she has kids. “When and if she finds a partner, and decides to have a kid, that’s a discussion she will have to have with her partner,” Barnes says.
Women who test positive for the BRCA mutations often face the dilemma of when to tell their daughters about it – as well as their sons, who can also carry the mutation. “By and large, by the time children are becoming teenagers … that seems to be a time that parents are more open,” says Kenneth Tercyak, an associate professor of oncology and pediatrics at Georgetown University School of Medicine. “If the mother has been sick in the past, this can offer somewhat of an explanation.”
There may be other benefits to telling teenagers their parents’ positive status, Tercyak adds. They may avoid smoking and excessive alcohol use and practice good health habits, knowing that they, too, are at risk of the disease and carrying the gene.
Know Your Rights
Apart from coping with the emotional and medical issues related to a positive genetic test result, patients are often faced with life-changing decisions, such as: whether or not to forego having children who might also carry or get the condition, and whether to remove ovaries or breasts to lower the risk of breast or ovarian cancer.
These issues aside, experts say people should also know their rights regarding privacy and protections against discrimination. In 2008, the Genetic Information Nondiscrimination Act became federal law, prohibiting discrimination for health coverage and employment based on genetic information. Jeremy Gruber, president of the Council for Responsible Genetics, who worked on the law, says that while the law is a step forward, it’s not comprehensive. It doesn’t cover life insurance, disability or lifelong condition care. While some states have passed laws extending those protections, “For many Americans, there is a lack of protection scenarios,” Gruber says.
“I think it’s important for people to become educated about exactly where they are protected and where they are not, and to be protective of that information,” he continues.
For example, employers are not allowed to ask for genetic information, but since the passage of GINA, there have been a number of cases where employers have improperly found out employees’ genetic information and used that against them, Gruber says.
For that reason, people need to be very careful about whom they tell about their genetic test results at the workplace, Klitzman adds. In his book, “Am I My Genes?: Confronting Fate and Family Secrets in the Age of Genetic Testing,” Klitzman profiles a woman who had mentioned her positive BRCA mutation result to a co-worker. “The next thing she knew, people were coming up to her, asking, ‘How are you?’” Klitzman says, adding that the woman had also been in line for a promotion that she didn’t get – she thinks because of her genetic status. “This is the kind of subtle discrimination that goes on.”
On the other hand, patients cannot withhold genetic information from health insurance companies, for example, just as they can’t really expect doctors to leave out that information in their medical records – even if the patient asks. A small percentage of doctors have disguised genetic information, much in the same way they used to use coded language for patients with HIV or those who had abortions, Klitzman continues. But concealing genetic information in medical records, apart from posing ethical concerns, may be more challenging as health systems increasing rely on electronic medical records designed to improve transparency.
Given this scenario, patients can help protect themselves by applying for insurance (especially life, disability or long-term care) before they get tested for genetic mutations. “Your rates are likely to be lower than after you find out you have a positive test result,” Klitzman says.
Kristine Crane, U.S. News and World Report