An Interview with Francis Collins, MD, PhD, Director of the Human Genome Project. (Cover Story)

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As the Director of the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH), Francis S. Collins, MD, PhD leads the Human Genome Project (HGP), a 15-year, multidisciplinary endeavor to map and sequence all of human DNA. Dr. Collins calls the work of the HGP "the most important organized scientific enterprise that humankind has ever undertaken." A working draft of the human genome sequence was announced by Dr. Collins and the HGP in June 2000 and the completed sequence is expected in the spring of 2003, two years ahead of the projected completion date of 2005. All data uncovered by the HGP have been made immediately available to the scientific community, without restrictions on access or use.

On October 4, Dr. Collins will address the third annual World Conference & Exposition on Disabilities in Orlando, FL, speaking on the medical advances arising from the Human Genome Project and their implications for improving the lives of people with genetic disorders and their families. EP Magazine spoke with Dr. Collins shortly before the conference about the current phase of the project--what he has called the "end of the beginning"--and what lies ahead for genomic medicine. Excerpts from this interview follow.

EP: Dr. Collins, how would you compare the significance of the mapping of the human genome to past medical or scientific milestones?

Dr. Collins It's an organized scientific effort by a large group of scientists around the world to tackle a very focused and historic set of goals. In that regard, it compares most closely to sending somebody to the moon or to the Manhattan Project to split the atom. But I would argue that this project, in terms of its implications for ourselves, carries even greater weight than those, because it's an adventure into ourselves to understand how we tick. And the implications of that--medically, philosophically and societally--are profound and, I think, outstrip any previous organized scientific effort of any sort.

EP: I understand you're going to be a keynote speaker at the World Congress & Exposition on Disabilities in October.

Dr. Collins: Yes, I am. I'm looking forward to that.

EP: What message of hope do you have to offer the families of people who have rare genetic disorders for which there is presently no cure?

Dr. Collins: Well, I can say with great certainty that the unraveling of the human genome will lead us to much more detailed insights into the causes of such rare genetic conditions. One can already see that happening: more than 50 genes involved in rare genetic diseases have been discovered in just the last couple of years because of the availability of increasingly better versions of the human genome sequence.

Accurate diagnosis based on detailed molecular understanding of rare genetic disorders will help provide answers to the cause of an illness and the likely course it will follow, and will allow an opportunity to predict more accurately what the risk of recurrence might be. Probably, though, what families are most interested in knowing is how this [information] is going to help with treatment. Ultimately we want to ... [be] able to come up with interventions that are more successful than what's currently available. That outcome is going to be unpredictable and each disease will present a different set of challenges. Thus, I would be hesitant to make any sort of global prediction about how quickly therapeutic advances will happen. For some conditions, where the gene turns out to be one that we recognize and have some idea of the role it plays, it may be that an intervention as simple as a dietary change or a drag that's already on the market might provide a light bulb "Aha!" moment. Thus, considerable progress may be achieved for some conditions by the kind of molecular understanding that is going to flow from the genome project.

For other conditions, effective therapeutic interventions are going to be extremely difficult to come up with, particularly if these are conditions that have affected brain development. …