A major clinic in central Wisconsin announced Thursday the formation of the nation's first large-scale gene bank designed to bring the Human Genome Project from the lab bench to the patient's bedside.
Marshfield Clinic's publicly funded Personalized Medicine Research Project will collect DNA from 80,000 people and match the genetic profiles with medical histories and other information in a statistical database.
Researchers at the clinic, a not-for-profit health care provider southwest of Wausau with 400,000 patients, and a pioneer in genetic research, said they hope to discover the genetic components of common disorders such as heart disease, cancer and diabetes and to tailor the health care of individuals based on their genetic profiles.
The Marshfield Project is the first step toward genetic medicine and foreshadows the day when a person's genetic map will be the ultimate medical record. The advances inevitably will raise privacy issues that the clinic is struggling to deal with.
The importance of the research is marked by the increased scientific understanding that every disease has a genetic component. Changes in certain genes cause specific diseases and how one responds to medications--as well as threats from the environment--is based at least partly on one's genetic legacy.
A key part of the Marshfield Project will be to genetically match medications with patients to avoid adverse side effects, which rank among the leading causes of hospitalization and death in the United States.
"We're about three to five years away from being able to select medications based on your genes, but that's where the first Genome Project advances will be seen," said the project's chief scientist, Dr. Michael Caldwell, director of the Marshfield Medical Research Foundation, a division of Marshfield clinic.
To Dr. Francis Collins, director of the National Human Genome Research Institute, the federal agency that led the public sequencing of the human genetic code, the Marshfield Project is a logical next step.
"Now that we have the human genome, the instruction book for human biology, we have the opportunity to begin to pinpoint the genetic factors that place people at risk for illness," Collins said.
The project's rural locale has a population that is unusually stable, with few people moving in or away. Most are of primarily Northern European ancestry.
For several years the clinic has been using an unusually sophisticated computerized record-keeping system that electronically captures all medical information on patients: lab data, consultations, office notes, procedures, X-rays and diagnoses.
For the Personalized Medicine Research Project, Marshfield scientists first will create a gene bank or DNA database. Next, they will look for subtle differences in the genetic characteristics that make people unique. Association studies will follow, matching the differences (polymorphisms) with patients' clinical records.
The third step will be to compare the gene studies to diseases in hopes of ferreting out gene abnormalities that may be responsible for predispositions to disease.
"Our goal is to enroll as many adult residents in the study area as possible," said Catherine McCarty, an epidemiologist and director of Marshfield Clinic's Personalized Medicine Research Center.
"Unlike studies that require only a few volunteers, this project needs the participation of a large percentage of the community, so we can create a genetic health and environmental picture that represents the population. Each person who takes part will make an important contribution."
The first phase should take 18 months and cost $4 million. It is funded by federal and state grants and clinic contributions. The second phase, which expands scientific infrastructure and discovery projects, will cost $16 million and could continue indefinitely.
No Marshfield patient volunteer will be identified in the study. In fact, the planning behind the confidentiality of the genetic information and the security of the data are extraordinary, experts said.
The only comparable program in operation is the controversial deCode project in Iceland. Started in 2000, the Icelandic government licensed a U.S.-funded corporation to compile health information from the medical records of its 270,000 citizens.
The information will be linked to a database of family histories of nearly 700,000 Icelanders who lived over the past 1,000 years, creating a privately owned "biobank" that could be used for medical research and to create new drugs.
In contrast, the Marshfield Project is neither a government venture nor supported by private industry. It is, in effect, academic research under the aegis of private doctors.