With all the nonstop news we hear about genetic medicine—a gene discovered here! a new genetic test developed there!—it’s easy to forget that our intro to this mesmerizing field of medicine happened only very recently. It was just seven years ago, in April 2003, that the International Human Genome Sequencing Consortium announced that it had successfully sequenced the entire human genome (a first draft was published in 2001). Over the last decade, much has transpired: genes connected to a vast array of human diseases have been uncovered, animal and plant genomes have been unraveled (cow and corn among them), and DNA testing companies have entered the marketplace. Now researchers are learning more about what the public thinks of all this, too. One significant finding: Americans want access to their personal-health blueprints. In the words of Joan Scott, director of the Genetics & Public Policy Center at Johns Hopkins University, “It’s me, it’s my genome. And I want to know about me.”
Scott learned this after conducting a series of focus groups to explore the public’s interest in giving and obtaining genetic information; she presented her research to science writers at a daylong conference hosted by the National Human Genome Research Institute in Washington, D.C., this week. Prior research by the Genetics & Public Policy Center has found that four in five Americans support the idea of a nationwide study to look at the interactions of genes, environment, and lifestyle. And 60 percent say they’d be willing to hand over their DNA.
Scott’s new research, which she and her colleagues hope to publish by the end of this summer, delves even further into how Americans view their genomes. Focus-group participants were asked if their interest in receiving genetic information depended on the size of their disease risk: Would they want to know they had a genetic propensity for colon cancer if their risk was only 5 percent? Or would the risk need to be bigger? And did the availability of a treatment matter? If a person has a genetic risk for colon cancer, for example, she might consider undergoing more frequent screenings, but there’s not much anybody can do about a gene for Alzheimer’s. In both instances, a majority of people wanted to know. “People have a great deal of optimism and interest in having information,” Scott said. “It could motivate health changes and give them a sense of control. And they could follow up on it and participate in research.”
This interest in self resonates in the most basic realms of clinical medicine. The very day that Scott discussed her research in Washington, the Beth Israel Deaconess Medical Center (BIDMC) in Boston announced the launch of a new study that will examine the impact of doctors sharing their medical notes with patients after office visits. This 12-month OpenNotes Project, funded by the Robert Wood Johnson Foundation, involves two other sites (Geisinger Health System in Pennsylvania and Harborview Medical Center in Seattle) and a total of about 100 primary-care physicians and 25,000 patients. BIDMC co-investigators Jan Walker and Dr. Tom Delbanco have found that patients want access to their medical records, even if they don’t actually look at them closely or read them all the way through. This became clear in their own study with focus groups, which was published in the Journal of General Internal Medicine last year. One participant’s comment in particular resonated with Delbanco, he says: a woman in Portland, Maine, admitted that she might not read her records completely, but, she said, “I want everything. It’s mine.”
The desire for ownership is what matters. In the OpenNotes Project, patients who already use computers to make doctors’ appointments and obtain lab results will now have access to the comments their doctors write about them during appointments. Delbanco says doctors are nervous about this. They’re worried about the time it will take and they fear a loss of control. They’re even concerned about the language they use and how patients will interpret it. (For instance, Delbanco notes, “SOB” stands for “shortness of breath” in medical lingo.) Not every patient wants to know more. “Some say, ‘Over my dead body would I look at my record. It would scare the hell out of me and I don’t want to see what my doctor thinks of me,’ ” says Delbanco. But plenty of others do, he adds: “They’re saying, ‘It’s about time the doctors open the black box. It’s my information, my body, my health. I should be as privy as anyone else.’ ”
Medical records and genetic data are two very different types of medical information, of course. Individual genomes aren’t being routinely decoded. So asking people hypothetically what they’d do with their DNA tests may not jibe with what they’d do in reality: early on, plenty of at-risk individuals (those who had a parent with the disease), said they’d be interested in taking a gene test for Huntington’s, but researchers say only a minority have followed through. Scott readily acknowledges this. “When people are actually faced with a scary situation, they back down,” she says.
Information can come through very different messengers, too. It’s one thing to learn about a disease risk from your doctor, and quite another to find out via the DNA marketplace, which is still very much in flux. Many experts question the motives of commercial genetic-testing companies and worry that consumers won’t get accurate information or the counseling they need to interpret or deal with the results. Some wonder about the ethics of charging hundreds of dollars to tell people they have a small risk of developing heart disease when the preventive prescription for avoiding it is exercising and eating well, a lifestyle we should all be living every day anyway. And a sample mix-up at the personal genomics company 23andMe has raised one other major concern: you might get somebody else’s DNA by mistake.
The idea of knowing your personal genome is still pretty futuristic, but the complaints and symptoms and worries we share with our primary-care docs and the observations they make about us matter right now. And they could have a direct impact on our health habits immediately. Delbanco is passionate about getting physicians and patients to exchange this information and to collaborate: “My view of medicine is that we have a unique body of knowledge that unless you’re a doctor you don’t have. And you have a unique body of knowledge about yourself that I will never have. Our job is to get the two together as close as possible.” Which certainly seems like a simple and enlightened proposition.