Expressing Genetic Information

Last April, scientists announced the completion, with greater than 99.99 percent accuracy, of the Human Genome Project, the culmination of a publicly funded, 13-year international effort to sequence the three billion DNA letters contained in the human genome.

Now behavioral and social scientists are being tapped to address the issues that arise when we learn the good, the bad, and the ugly aspects of our genetic profiles.

What will be the Human Genome Project’s payoff in lives saved and suffering spared? How will this unprecedented access to our genetic blueprint – and to our individual genetic quirks – affect people’s health behaviors, medical decisions, and family-planning choices? What are the best ways to tailor risk communications to different circumstances, such as when genetic information is ambiguous, when there is no way to prevent or treat a genetic illness, or when children are involved? What steps should researchers and health care systems take to ensure that poor people and minorities share the benefits of genomic research? Who should have access to personal genetic information, and how can the public be protected against its misuse?

Colleen McBride
Colleen McBride

Such are the questions that will occupy the National Human Genome Research Institute’s Social and Behavioral Research Branch, launched in December 2003. To lead the new intramural branch, the Institute recruited Colleen McBride, a prominent behavioral epidemiologist who was formerly director of the Cancer Prevention, Detection, and Control Research Program at Duke University.

Behavioral scientists have greeted the new research branch with uniform enthusiasm, said Eric Green, NHGRI scientific director and director of the Institute’s division of intramural research. He adds that recruiting a social scientist of McBride’s stature to direct the branch was a coup for the Institute.

“We feel like we got a fantastic athlete to join us,” he said.

Virtually all NIH institutes have an intramural research program. As the name implies, intramural research is conducted by NIH employees at NIH’s home location in Bethesda, MD, and in several other facilities throughout the country. This is in contrast to extramural research, which is conducted on university campuses or in other locations and is supported through grants that are awarded through a system based on peer review of research proposals. The vast majority (80 percent) of NIH’s $26 billion budget is devoted to extramural research; about 10 percent goes to intramural research. At NHGRI, intramural research receives about 19 percent (or $92 million) of the institute’s total budget.

Eric Green
Eric Green

One of seven intramural research branches at NHGRI, the SBRB has six investigators and is recruiting three more social and behavioral scientists. The branch has also established a visiting scholars program. In the next five years, the SBRB expects enough growth to support 30 to 40 scientists and other staff.

“The leadership here has been absolutely committed to giving us whatever we need to build a premier research program,” McBride said. After building renovations are completed in 2005, SBRB researchers will move to a new, trans-institute Social and Behavioral Science Center on the National Institutes of Health campus. SBRB scientists will share the space with intramural investigators from the National Institute of Mental Health and with the Office of Behavioral and Social Science Research, which focuses primarily on extramural research activities. For the moment, the co-location of these programs is a center in name only.

“For a long time, [NHGRI Director] Francis Collins has recognized the importance of the psychological impact of people’s knowledge about their genetic risk,” said Redford Williams, director of Duke University’s Behavioral Medicine Research Center. Establishing the new branch ensures “a high-level advocate for and a source of knowledge about social and behavioral science techniques that can be applied to emerging genomic research,” William said. “It’s a seat at the table.”

“There’s an opportunity for extraordinary leadership here,” agreed social psychologist Jessie Gruman, president of the Center for the Advancement of Health, a Washington-based organization that works to translate health research into policy and practice. She suggests that by gathering behavioral scientists from diverse fields-from risk communication and health psychology to behavioral medicine and bioethics-the new branch can bring a much-needed transdisciplinary approach to research on genetic risk and its psychological impact.

“I see this new branch as an opportunity to really catapult these fields into the future, because [the branch] cross-cuts diseases,” Gruman said. “In that sense, this is a big chunk to bite off.”

TRANSLATING GENETIC DISCOVERIES INTO HEALTH IMPROVEMENTS
With the human genome project complete, the obvious next step, according to McBride, is to translate genomic discoveries into effective health-promotion interventions and methods for counseling people with genetic disorders.

“Discovering a new gene might be a big thrill for the scientists involved, but at the end of the day, the public is going to demand that they get some benefit from it,” she said.

Green agreed. “Genomic research is creating many new issues that society will have to grapple with as we get a better understanding of our genetic blueprint and how defects in it result in disease. It would be irresponsible to do this kind of research without also studying what its implications are for patients and for society.”

SBRB scientists will develop ways to translate emerging genomic discoveries into health communication, disease prevention, and genetic counseling interventions. In addition, they’ll probe the ethical, social, and public policy impact of genomic research-a topic that has been of concern from the Human Genome Project’s earliest days. (Since its inception in 1990, the project has dedicated between 3 percent and 5 percent of its annual budget to the extramural Ethical, Legal and Social Implications Program.)

Several projects are already underway at the SBRB. One study is examining how people with a family history of a rare form of colon cancer, hereditary non-polyposis colorectal cancer, make decisions about whether to undergo genetic testing for susceptibility to the disease and whether they comply with screening recommendations.

Another project is exploring ways to more fully engage minority communities in genetic research.

“A lot of what we know about how people react to risk communications is based on white families that are often more affluent,” McBride explained. “We’re going to have a program of research looking at the best strategies for involving minority groups and making sure that the interventions actually reach them.”

In a third project, McBride probes strategies for encouraging people to participate in smoking cessation interventions, a study she began at Duke. The strategy uses genetic susceptibility – a family history of lung cancer as a motivator to quit.

OVERLOOKING BASIC BEHAVIORAL RESEARCH?
Although behavioral and social scientists have applauded the NHGRI for establishing a research branch dedicated to social and behavioral research, some also caution that behavioral scientists’ role at the SBRB should not be limited to investigating risk communication and genetic counseling strategies. They point out that behavioral science expertise is central to basic investigations of how genes interact with environment and behavior to cause disease.

For example, Williams cited recent research suggesting that people with a particular genetic variant in a gene that regulates the neurotransmitter serotonin may show greater cardiovascular responses to stress, putting them at heightened risk for heart disease. In other research, psychologists and geneticists have found that another variant of the same gene makes people more vulnerable to depression when they are under stress. If further research upholds these findings, Williams suggested, it may be possible to customize efforts to prevent heart-disease or depression based on this aspect of people’s genetic profile.

Such research, Gruman agreed, underscores that behavioral scientists’ role in understanding how behavior is involved in the expression of genetic vulnerabilities “needs the same kind of focus that risk communication is getting.”

APS Fellow and Charter Member Robert Plomin, deputy director of the Kings College London Institute of Psychiatry’s Social, Genetic and Developmental Psychiatry Research Centre, likewise emphasized the important role that behavioral scientists play in basic genomic research.

Plomin has observed that complex genetic disorders (in which many genes and environmental factors influence people’s risk for disease) account for the vast majority of diseases and psychological traits influenced by genetics, from mental illness, learning disabilities, and drug abuse to cardiovascular disease and obesity. He maintains that behavioral scientists, trained to think multifactorially, have led the way in developing methods for detecting subtle genetic effects and untangling complex gene-environment interactions.

“It isn’t like the big boys in biology make the discoveries and then the rest of us can figure out how to apply them in the real world,” Plomin said. “We behavioral scientists are right there on the cutting edge of human genome research, trying to understand how genes for complex traits develop.” Recognizing that is important, Plomin said, not because behavioral scientists deserve credit for their contributions, but because behavioral expertise is needed to understand how genes operate, from the cellular level to the whole organism. Such an understanding, he argued, is critical for developing potent diagnostic, treatment, and disease-prevention strategies.

Acknowledging genome scientists’ tendency to overlook behavioral scientists’ role in basic genomic research, McBride suggested that part of the solution lies in developing new conceptual approaches that transcend disciplinary boundaries.

“There is a tendency on the part of behavioral scientists to see ourselves as second-class citizens, but we’ve got to let that go,” she argued. “Behavioral scientists have a responsibility to come to the table with some understanding of genetics.”

McBride said that behavioral scientists rarely receive training in genetics and related fields, so she’s not surprised that few are comfortable stepping outside their niches. She hopes that bringing behavioral scientists from all walks together in the new Behavioral Science Research Center will foster a more transdisciplinary mind-set. She noted that breaking down barriers among disciplines is a central goal of the NIH Roadmap, a recent initiative designed to hasten the movement of medical advances from the laboratory to the clinic and community.

“We’re not going to be fluent in each other’s disciplines overnight,” she said, “but I think even a modicum of understanding would be a big step.”

Observer Vol.17, No.3 March, 2004

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