This question has been the subject of conferences and symposia over the past two years, culminating in a report being published in the April 24 issue of the journal Nature that lays out future goals for genomics research. The report, which includes the input of researchers from Stanford University Medical Center, was sponsored by the National Human Genome Research Institute (NHGRI) and endorsed by the National Advisory Council for Human Genome Research.
"Finishing the human genome took a huge amount of effort," said Richard Myers, PhD, professor of genetics at the School of Medicine and director of the Stanford Human Genome Center, which participated in sequencing chromosomes 5, 16 and 19. "It's a great landmark, but now it's time to sequence other organisms." Sequencing other organisms to learn about human evolution is a goal laid out in the report.
The report establishes three basic areas of genomic research that encompass the structure and function of the genome, translating that knowledge into health improvements and promoting genomics research to benefit society. The three research areas share fundamental goals such as developing new technology resources, training new generations of genomics researchers, and examining ethical, legal and social implications of genomic research.
Barbara Koenig, PhD, an associate professor of medicine at Stanford who studies biomedical ethics, said the NHGRI is the only branch of the National Institutes of Health to make ethical, legal and social implications an integral part of its research agenda. "They've really taken the lead by doing that," she said.
The past 10 years of genetic research has uncovered genes involved in such disorders as cancer, Alzheimer's disease and heart disease. As a result of these discoveries, people now have access to genetic tests that can reveal their risk of serious disease. Koenig noted that although this information can be used to help people lower their own disease risk, it also has the potential for abuse by insurance companies or employers. It also gives a glimpse into the future that some people may not want. "Do we really want to know the future?" she asked.
"The good thing about having ethical, legal and social implications be a mandatory part of NHGRI research is that people have collected data that can influence policy," Koenig said. As an example, she said data on these implications could lead to policies about the best way to both carry out genetic testing and convey those sometimes troubling or confusing results.
Koenig added that technologies proposed in the report raise new issues for researchers studying ethical issues associated with genetics. "What will happen if you can sequence a person's entire genome for less than $1,000?" she said. "What would be the ethical implication of reaching that goal?"
One major challenge posed by the report is to understand the relationship between genomics, race and ethnicity. Neil Risch, PhD, professor of genetics, said that addressing this issue may be more a matter of having people involved in that area of research talk out their different opinions than of carrying out new research. Both Risch and Koenig participated in conferences leading up to the final version of the report.
Risch has long argued that race has an important role in biomedical research and should not be replaced with genetic tests to categorize populations of people. "I think there are circumstances where genetic markers will also be important," Risch said. However, in his research he has found that racial differences are very much aligned with genetic markers, and studies based on race take significantly less time and money to produce.
Risch admits that some researchers would like to see the word "race" eliminated from scientific vocabulary, but doesn't see this step as necessary if the goal is to reduce or eliminate disparities. "How can you pretend to address disparities if you can't discuss them and study them?" he said. Risch suspects that the concept of race may become more palatable in the future if scientists themselves become more racially diverse.
Other Stanford researchers who contributed to the report are Ronald Davis, PhD, professor of biochemistry and genetics and a member of the NACHG, which approved the report; and Arend Sidow, PhD, assistant professor of genetics.
Stanford University Medical Center integrates research, medical education and patient care at its three institutions - Stanford University School of Medicine, Stanford Hospital & Clinics and Lucile Packard Children's Hospital at Stanford. For more information, please visit the Web site of the medical center's Office of Communication & Public Affairs at http://mednews.stanford.edu.
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EMBARGOED FOR RELEASE UNTIL: April 14, 2003, at 11 a.m. Pacific time to coincide with a press briefing at the National Human Genome Research Institute