MEDICAL CENTER REPORT
02/06/08
Human genome pioneer says work just beginning
BY AMY ADAMS
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Five years after the complete human genome sequence became available, the real work is beginning to flourish, according to Francis Collin, MD, PhD, director of the National Human Genome Research Institute, who spoke Feb. 5 at the Clark Center auditorium.
The task of understanding the sequence data has proved more daunting than researchers initially expected. "All of us who are excited about having the sequence are upset that staring at the data doesn't give you any information," he said.
In the last few years, large-scale collaborative initiatives have begun to clarify normal variations in the human genome, compare our genome to that of other organisms to understand our origins, and identify nongenetic factors that influence the genome. Under Collins' leadership, the NHGRI has made the data from these projects publicly available for researchers who want to take the next steps in applying the information to human health.
One area where researchers are beginning to make headway is in discovering genes associated with complex diseases such as diabetes, cancer and heart disease, each of which may be triggered by a combination of 20 or more different genes plus environmental factors.
Collins led efforts to find some of those genes, including a large research collaboration to identify a handful of genes that increase risk of type-2 diabetes. "Most of these were a total surprise," he said. "That's both cool and humbling in terms of what we thought we knew was going on."
In fact, Collins said that for almost all of the complex diseases, finding those novel genes is just the first step. Teasing apart the influence of any one of those genes and figuring out how to turn those discoveries into cures is the next challenge, he said.
Even with the genes in hand, questions remain about how people should access information about their own risk of diseases. Companies are already starting to offer online services to give people information about their genetic risk of disease. "It's not clear that having this information will help people or just scare them," he said.
Collins also called for policies to deal with the potential for insurance discimination based on genotype.
Collins' talk was sponsored by the medical school's Office of Diversity and Leadership.
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