Navigating the Emerging Field of Genomic Counseling
Genetic counseling has traditionally served as a bridge for patient and physician understanding, education and clinical application of genetic information for rare genetic disease. It is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. Although to date, most genetic counseling and testing have focused on Mendelian disorders, the advancements in genomic technologies including GeneChips and next generation sequencing in combination with the data generated from genome-wide association studies has opened the door to commercial testing for common complex diseases and pharmacogenomics (PGx). This changing face of genetic/genomic testing, is rapidly affecting the practice of genetic counseling. Much remains to be learned about both the genetic and non-genetic factors that influence risk, especially for common complex diseases, and how this personalized risk information can be used to improve health. People’s motivations for choosing to have genomic testing and the role for genetic counseling within the context of this genomic testing need further study. It is anticipated that this new era of genomics may require new approaches to genetic counseling, or more appropriately “genomic counseling”;including altering the structure of a typical genetic counseling session to accommodate the need to provide risk information for multiple diseases of complex or multifactorial etiology, as well as pharmacogenomic information, when applicable. This lecture will include information on the current process of genetic counseling, provide an update on genomics and personalized (P4) medicine, including presentation of an ongoing personalized genomics research study at OSUMC, and discuss the issues surrounding direct-to-consumer genomic testing.
Sturm is an Assistant Professor in Human Genetics in the Department of Internal Medicine at The Ohio State University. You can learn more about Sturm's research at http://internalmedicine.osu.edu/genetics/directory/genetic-counselors/amy-sturm/index.cfm
