February 7, 2009
Coriell study a step to 'personalized medicine'
Courier-Post staff
The Coriell Personalized Medicine Collaborative -- an evidence-based research study designed to determine the benefit of using personal genome information in clinical decision-making -- recently launched a secure Web portal for participants.
The site, which describes the CPMC study and how to participate, also serves as an educational resource, explaining basic genetics, the importance of genomics in medicine and how "risk" is actually defined.
For the volunteers, who eventually will number 10,000, the study offers a start at what the Coriell Institute calls "personalized medicine," a glimpse at their own genetic codes.
For some, that could mean learning they are predisposed to certain serious, but treatable, illnesses, such as diabetes. That is information that could, under the advice of a physician, lead to changes such as better eating habits or more exercise.
Information on diseases that are not considered "medically actionable," on the other hand, will not be revealed.
It's within the small amount of variations in that genetic material that science has found links to things that go wrong.
For now, the Coriell study will be reporting variants linked to three ailments -- diabetes, coronary artery disease and hemochromatosis (iron overload).
But more variants are expected to be added over time, at the discretion of the special oversight committee, a group of scientists, physicians, ethicists and others who constantly will be reviewing the evidence to support more releases.
The testing is free -- and painless, requiring only a vial of saliva -- but does entail completion of a questionnaire on personal and family medical history and lifestyle, and completion of follow-up questionnaires on what a person did or did not do with the study results.
It is up to the participants to decide whether or not they want to see the results.
Through the portal, the more than 3,360 current CPMC participants, as well as all future participants, will access and complete required online health questionnaires detailing personal and family medical history and lifestyle.
Information derived from the questionnaires, along with the individual's DNA, will be used to provide each study participant with personalized disease risk assessments for use in health management and clinical decision-making.
The CPMC health questionnaires cover lifestyle topics ranging from smoking status and hours of sleep per night to medical histories of high cholesterol and cancer.
The family history portion, which is one of the major differentiators between the CPMC and other personalized medicine initiatives, requires participants to talk with immediate family members to gather, and in some cases uncover, information about various diseases such as cancer and diabetes, birth defects and conditions that affect bones; joints; nerves; the heart, lungs and blood; the digestive system; and the brain.
"The Web portal launch is a significant milestone as Coriell's Personalized Medicine Collaborative progresses toward the goal of providing personalized disease risk information to study participants," said Coriell CEO Michael Christman.