March 18, 2009
The 24-page booklet, “Making Sense of Your Genes: A Guide to Genetic Counseling,” was produced by the Genetic Alliance, the National Society of Genetic Counselors and select students from the Johns Hopkins/NHGRI genetic counseling program. The guide is targeted to patients and physicians seeking to help patients understand the process of genetic counseling.
Trepanier was asked to serve as advisor and reviewer because of her position as president of the National Society of Genetic Counselors, a title she held in 2008. She is immediate past president of the society now.
“Genetic counseling is a relatively new profession. Consequently, clinicians are often not familiar with the service provided by genetic counselors and patients referred for services do not know what to expect,” Trepanier said. “This booklet will serve as a valuable resource for clinicians and patients to help them prepare for and understand what will happen during a genetic counseling session. It was an honor to be invited to work with the many students, advocates and clinicians who developed this booklet in what was truly a collaborative process.”
Genetic counseling services are taking off, Trepanier said, because an increasing number of genetic tests are becoming available. Such tests are moving beyond the rare, single-gene disorders caused by mutations to include genome-wide conditions able to identify predispositions to conditions such as heart disease, cancer and diabetes.
“It is anticipated that full genome sequencing (the sequencing of every one of a person’s 30,000 genes) will be available at a cost of $1,000 in the next five years,” Trepanier said. “The goal is that this information will revolutionize health care in that it will someday be possible to identify what health conditions an individual will be at highest risk of developing so that a physician can personalize approaches to disease prevention.
“Someday, this information will also be useful in determining how well a person will respond to certain medications and whether he or she is at high risk for an adverse effect with particular medications,” she added.
Physicians seeking copies of the booklet may review a PDF file of the publication at www.hsgc.org or http://geneticalliance.org/ws_display.asp?filter=counseling.guide. The file can be downloaded. A small number of complimentary printed copies may be secured through the Genetic Alliance.