Faculty Share Perspectives on Human Genome 10th Anniversary
Release Date: 06-25-2010
Author: Jennifer Nachbur
Email: Jennifer.Nachbur@uvm.edu
Phone: 802/656-7875 Fax: 802-656-3961
Saturday, June 26, 2010 marks the 10th anniversary of the completion of the draft sequence of the human genome. On the day the sequencing was announced, then-President Bill Clinton was quoted as predicting that "Genome science will have a real impact on all our lives — and even more, on the lives of our children. It will revolutionize the diagnosis, prevention, and treatment of most, if not all, human disease."
Below, two University of Vermont College of Medicine faculty experts provide their perspectives on the scientific value realized by the sequencing of the human genome, biomedical advances that have been achieved over the past ten years, as well as what we have to look forward to in the future.
An ABCC-Board certified Clinical Chemist, Tracy is the former senior associate dean for research at the College of Medicine and serves as director of the Laboratory for Clinical Biochemistry Research, which currently uses a wide variety of assays in the research settings of molecular and genetic epidemiology, particularly in the areas of coagulation, fibrinolysis, thrombosis, and inflammation. His research interests include the pathophysiology of, and influence of genes on, atherosclerosis and coronary heart disease, other chronic diseases, and aging.
"In my experience, when biomedical scientists and clinicians think about genome sciences, they tend to fall into one of two camps. Most of the people in both camps feel that the publicity which has accompanied the various milestones to date (the first human genome sequence, the HapMap, and more recently, the spate of Genome-Wide Association Studies, or GWASs) has been overstated. In addition, one camp feels the process has been a 'bust,' and that little of real significance has been found. The other camp believes that genome science is a long process, one which we have just begun; therefore, it's not surprising we haven't yet made many — some might say any — major breakthroughs.
"I'm in the second camp. Genome sciences take a lot of resources, so justifiably it's a target for criticism; those resources could have gone to other projects, other science. However, I believe the process should be driven considerably further than it has been, and strongly support it. I believe we will, one day, understand how genes and the environment interact to affect human health and disease, but that it's going to take time. The systems are far more complex than was originally thought. As we peel back each successive layer of the onion, we find the complexity has gone up by another order of magnitude. Nonetheless, I feel this work must be done, and the complexity will ultimately yield to hard work. The reward will be enormous."
Yandell, who established a Molecular Diagnostics Laboratory at UVM in order to enhance the University’s capacity to perform research in cancer genetics, served as director of the Vermont Cancer Center from 1995 to 2006 and created the Familial Cancer Program of the VCC. His research focuses on the molecular genetics of familial cancer predisposition. Yandell played a key role in the identification and sequencing of the gene for retinoblastoma — a hereditary cancer that causes tumors of the retina and typically afflicts 250 to 300 children per year. With Alan Guttmacher, M.D., a former Vermont Regional Genetics Center director and former acting director of the National Human Genome Research Institute, Yandell helped establish a statewide Vermont Human Genetics Initiative.
"So far, predictions that sequencing the entire human genome would revolutionize medical care for the masses have not come true, but it's important to understand that most geneticists and genome scientists never said this would happen. The revolution that has occurred from sequencing our genome — and that of other species, including many pathogenic organisms that cause disease in humans — has been in our understanding of exactly how many of these human diseases occur. So far, the revolution in new treatments hasn't materialized, but there certainly has been a revolution in the number of targets and strategies that can be exploited by future treatments. This work is not finished.
"Our health care system has taught us to demand magic bullets for our ailments, but the human body is a complex system. Complex systems can fail in complex ways that don't always respond to simple solutions. Our understanding of the human genome from the last 20 years tells us that most very common human diseases, for the most part, have no simple single genetic basis or mechanism that will be fixable with a magic bullet. This is especially true of the most common diseases associated with aging, which occur as a complicated dance between our environment, time, and the natural genetic variation that occurs in our species. For these diseases of aging, there seem to be many possible routes to arrive at the same endpoint that we call 'disease', but which in fact may be a natural and necessary byproduct of the need for biological variation in evolution. It's also very important to understand that, while sequencing the human genome has so far led to no major revolution in medical care for the most common human diseases, there has been a true revolution in treatment and in hope for many, many people with rare disorders that have a simple genetic basis — literally thousands of disorders affecting millions of people worldwide. The human genome project has been massively successful in finding the causes of these simple genetic diseases, revolutionizing both diagnosis and treatment options for those who are affected."