“Do I want to know?”
That’s the first question we ask ourselves about genetic testing.
Anyone considering a genetic test in a clinical setting should think past that to the next question a genetic counselor will ask: “How willing and able are you to share the results with your family?”
While genetic information is intensely personal, it’s rarely just about an individual.
Beverly Yashar, a genetic counselor who teaches at the University of Michigan Medical School in Ann Arbor, says once counselors work through what’s relevant to one person, they next try to get a family — whether they’re in the room or not. The purpose: to understand “how the laws of inheritance lead to effects for other family members.”
Yashar gives an example of hypertrophic cardiomyopathy (HCM); a person with this thickening of the heart muscle might look and feel fine but suddenly drop dead from cardiac arrest. When genetics are the cause, every first-degree relative (parent, sibling, child) of someone with HCM also has a 50-50 chance of having it. Those family members could greatly lower their chance of sudden death by having a defibrillator implanted — if they knew they were at risk.
“We can’t reach out, and we can’t warn other people,” Yashar says, because privacy laws “limit us from talking about anybody’s health other than with that specific individual. Our goal really is to try to keep a family unit as the mechanism of communication.”
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Family Affairs and Genetic Testing
That can be hard when emotions run high. There may be fear, anger or guilt to contend with, and on top of that, family relationships. Some are strained, and some families are completely estranged.
Kimberly Schahl, a genetic counselor at the Mayo Clinic Center for Individualized Medicine in Rochester, Minn., says to deal with emotions like guilt, it’s helpful to step back and talk about the realities of genetics.
“We all have probably six to 10 deleterious, disease-causing genes that we carry and that we know nothing about, and we pass them on,” Schahl says. “Some cause disease, and some of them never do, and it’s not something that the patient has any control over. What they do have control over is how they inform and educate their family about them.”
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Genetic patients “can be there as a resource” for their families, she adds.
Try these approaches, used by genetic counselors, for dealing with family dynamics:
• Anticipate the family's response. “Do you think they’re going to be afraid? Do you think they’re going to be positive?” Yashar asks. She role-plays with patients, asking: “Can you tell me what you’re going to say to them?”
• Share the results in a letter. “We’re a little bit unusual in this profession in that we often write a fairly extensive letter that helps you remember what we’ve talked about in the session and then share it with family members,” Yashar says. That’s supplemented with print and Web resources.
In the hardest family situations, with the patient’s permission, Schahl says the letter she normally gives to the patient to share is sent to the family anonymously: “A family member has been known to have this.”
• Use the family mediator. “Who in your family talks to everybody? Who’s the easiest for everybody to get along with?” Yashar asks, encouraging patients to make use of that person as a partner in communicating with others.
• Counsel the family together, if possible. Group family counseling is ideal, because it lets everyone hear the news and discuss things in a calm setting. However, it's often challenging to pull families together. And for ones that don't communicate well, the added stress of learning about a health issue can exacerbate problems, making counseling ineffective.
Certainty is Elusive
Health systems “strongly recommend” that patients see a genetic counselor — trained at the graduate level in clinical genetics and in counseling skills — before and after any complex genetic test, Schahl says. It’s partly to clear up misconceptions about how much certainty the tests will provide.
“I spend a lot of time managing expectations,” she says. In “whole exome testing,” where the coding portion of every gene is looked at for diagnostic purposes, patients are surprised to hear her say, “The likelihood that we’ll identify a diagnosis is about 20 to 25 percent.”
Counseling is also used because it’s hard for patients to anticipate their own reactions, let alone family reactions.
Schahl says, “I had a patient a couple weeks ago who knew she was a carrier of a [breast cancer] BRCA-1 mutation, and she had told her extended family and was quite disappointed to know that not one person followed up with testing.”
“Not everybody wants to know,” Schahl says. “For patients who are information seekers, that’s very difficult to understand.”
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A patient’s responsibility is to say to their family, “I have this. You could be at risk,” she adds. “But ultimately they can’t be in charge of how their family decides to deal with that information.”
Denise Logeland is a writer and editor in Minneapolis who covers business, health and environment.