Now that researchers have finished sequencing most of the human genome, it can be put to use. Marshfield Clinic scientists are considering how genetic information can improve patient care.

"The Human Genome Project will affect people tremendously," said James Weber, Ph.D., director of the Center for Medical Genetics at Marshfield Medical Research Foundation. "The sequencing will not change people's lives. It's what we do with the information. It will make all biomedical research more efficient."

Researchers announced in June that they had a draft sequence of most of the human genome. A genome is a complete set of instructions for making an organism. Understanding the human genome gives researchers more ammunition to use against disease.

Dr. Weber and other genetics laboratory staff spent about five years working almost exclusively on the Human Genome Project, an international consortium funded through the National Institutes of Health and London-based Wellcome Trust. The effort to map the human genome took a decade and cost $3 billion.

Expect further advancements to occur at a faster pace. Understanding the genome will improve diagnosis and treatment of disease as well as improve prevention. Prevention is the focus of much of Dr. Weber's current research and will guide how the information from the genome is used. Knowing the cause of disease is the first step to preventing it, he said.

For example, most sequences in DNA pairs are exactly alike, but about one in 1,000 differ slightly. These differences, called polymorphisms, allow researchers to distinguish between pairs of chromosomes in a person and are useful for tracking traits and disease. Dr. Weber discovered a new DNA polymorphism, which helped researchers in many applications speed their work. He is working on genome polymorphism scans, which help detect changes in DNA and discover links to disease.

The technology used for these scans was designed at Marshfield Medical Research Foundation and built in Marshfield.

With the human genome mapped, humans will be able to understand themselves better, Dr. Weber said. "On a species or societal level we will understand our history better and our future."

With knowledge comes responsibility, Dr. Weber continued. People might begin to understand that those who are successful in society do not succeed just because of hard work, but in part because of better luck in the genetic lottery, he said. In concert with their physicians, patients will eventually have more responsibility for their own health care to help prevent complications from disease.

Mapping the human genome also will have a profound effect on research at Marshfield Medical Research Foundation and clinical practice at Marshfield Clinic, said Michael Caldwell, M.D., Ph.D., director of the Foundation. "Not only have Marshfield Clinic and the Research Foundation had a hand in mapping the human genome, but we're uniquely positioned to take advantage of the new knowledge to help patients," he said. Researchers are studying families with a tendency toward a specific disease to try and prevent it or mitigate its effects. In addition, research will help scientists understand how medications affect different people based on their genotype. The result will be personalized drug therapy.