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Physicians may need some training in order to have productive conversations with patients about genetic testing, one of the study's authors suggests.

Mario Villafuerte/Getty Images

Let's say you send away a saliva sample – and a few hundred bucks – to a private company for genetic testing. When the results arrive by mail, you discover you have a higher-than-average risk for prostate cancer. Now what?

Your doctor may listen carefully to your concerns and weigh the pros and cons of acting on this genetic data. But there is a good chance you will leave his or her office frustrated because the physician would not take your results seriously, or even discuss them with you, according to a study published Monday in the Annals of Internal Medicine.

The research, funded by the U.S. National Institutes of Health, is the first long-term study of how patients experience encounters with health-care providers about genetic testing results they have ordered themselves. The study included 1,026 U.S. customers of two companies, 23andMe and Pathway Genomics. Here are key findings:

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  • Soon after ordering a genomic test, 63 per cent of patients planned to discuss their results with a primary care provider (usually a family physician). But at six months, just 27 per cent of patients had done so; many said the results were not important enough (40 per cent) or they did not have time (37 per cent).
  • Of patients who discussed genetic testing results with a physician, 35 per cent were “very satisfied” with the encounter, while 18 per cent were “not at all satisfied” (the rest were “somewhat satisfied”).
  • Dissatisfied patients cited physicians’ lack of engagement or interest in the test results, lack of knowledge of genomics and skepticism about this type of testing as reasons for their disappointment.

Genetic tests offered by companies such as 23andMe are controversial. Many researchers, including the authors of an accompanying editorial, liken them to the much-maligned whole-body scan. Direct-to-consumer genetic tests "deliver uncertain information and create patient expectations that may align poorly with evidence; clinical priorities; or, in some cases, the patient's best interests," they wrote.

The vast majority of North Americans suffer from chronic diseases such as Type 2 diabetes and cardiovascular disease, in which lifestyle choices far outweigh genetics in putting patients at increased risk. Genetic testing may give patients a false sense of security. In Type 2 diabetes, for example, genetic-risk profiling of an obese person with low genetic risk could "send the wrong message," the editorial writers pointed out.

But what are the consequences of physicians ignoring these tests? Consumer appetite for genetic testing is high. In the NIH-funded study, patient satisfaction with the tests themselves far outshone their ratings of discussions with primary care providers about these tests. In fact, when patients reported that the company and their physician had different interpretations of the results, those who were not at all satisfied with the physician encounter reported greater trust in the company's interpretation.

These patients were small in number, notes Deanna Alexis Carere, a joint first author of the study and a postdoctoral fellow in epidemiology at McMaster University. But "it's worrisome that people would put their trust in the company over their trust in the physician," Carere said.

She added that physicians may have played a role in this erosion of trust. "You have to think something could have been done along the way to interrupt that path."

Carere, who works as a genetic counsellor, suggests that a little training would go a long way to help physicians have productive conversations with patients about genetic testing. "I don't think it's outside of what they should do, and what they can do," she said.

She acknowledged that patients may have high expectations of what they can gain from genetic testing. The company 23andMe, for example, uses the slogan "knowledge is power," and in the media, "genetics are widely hyped right now," she said.

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Discussing genetic testing results may eat up precious time at the doctor's office. Nevertheless, patients who have paid for genetic testing show a motivation to be proactive about their health, she pointed out: "They've ordered the test, they've brought it to you – now you've got them in your office." Instead of dismissing patients' concerns, physicians could frame them in a broader conversation about all the risks factors – including genetics – that patients should consider as they take action to protect their health, she said.

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