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Considered Words on Risk

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In May 2000, a month before researchers at the Human Genome Project and Celera Genomics announced their completed draft sequences of the human genome, Gil Omenn published a hunch in the Annual Review of Public Health. On his mind was the idea that while sequencing the human genome would "surely stimulate a golden age for the public health sciences," as he wrote then, it would also generate a slew of ethical enigmas. He anticipated that communicating disease risk and the effects of behavioral choices to patients and study cohorts would surely become a convoluted and controversial issue. Now, Omenn says, while researchers are still collecting evidence as to whether genetic testing will be beneficial, "we need to think of how you would do such studies with sensitivity about different attitudes, different cultural contexts, and different implications of different diagnoses."

In the 2010 edition of the Annual Review, Omenn, a professor of internal medicine, human genetics, and public health at the University of Michigan, moderates a symposium on the public health significance of genomics. In it, he outlines ethical issues he has encountered in the field and commissions the expertise of his colleagues who are examining gene-environment interactions and evaluating behavioral responses to personalized genetic information, among other things.

At issue, Omenn says, is that current genetic screens can't accurately account for environmental, lifestyle, and other confounding factors. "The extent that the tests focus only on genetics, or have a perfunctory sentence saying 'Talk to your doctor,' or 'Go read Prevention magazine,' just shows we're at a very early stage of exploring the field," he says. "So what does it mean to say that your risk is 23 percent instead of 17 percent — is that a really clinically meaningful difference?" he asks.

In his 40 years as a genetic counselor, Omenn has seen the confusion that using the terms "high" versus "low" to describe genetic risk can cause, which is only part of the reason he and several colleagues have adopted a cautiously considered — and non-directive — counseling approach.

"We have to be very careful about the words [we choose] and what they mean to different people in different circumstances," he says. Hypothetically, Omenn says, one family that has two children with autosomal recessive conditions may view a one-in-four chance of their next child being affected as a relief, whereas another might say that "25 percent risk of a nasty disease is intolerable."

Communicating risk is a delicate dance. "We should do our best to help people understand the facts … and the information that can be obtained — if any — by testing, and help them think through the questions they want to address, the values they bring to it, the worries they bring to it, and the fears they bring to it," Omenn says.
For their part, he says, geneticists and clinicians must "think about how to make [genetic information] intelligible, what the [health literacy] 'reading level' is, and [which] analogies are appropriate for different populations."

Omenn's bottom line is anticipation. He says that scientists most often face ethical strife by not "thinking in an anticipatory mode." Paraphrasing former US Secretary of Defense Donald Rumsfeld, Omenn says there are the "things we know, the things we don't know, and the things 'we don't know we don't know.' ... That's tough. That requires a good imagination," he says. "[But] the things we absolutely do know, and ignore, come back to bite [us] because it undercuts the trust between the people doing the research, the people in the clinics, and the population they're trying to reach."

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