L. Adrienne Cupples, PhD presents -
"Are We Ready for the Clinic?"
Dr. Cupples is Professor of Biostatistics and of Epidemiology at Boston University School of
Public Health and is Senior Investigator of the Framingham Heart Study. She has collaborated in traditional epidemiologic studies of risk factors for disease, especially cardiovascular diseases and Alzheimer’s disease. Over the past twenty years, she has focused on studies of the genetic contribution to disease and has participated in many genome-wide association studies. Currently, she is focusing on whole genome sequencing studies in the Trans-Omics for Precision Medicine (TOPMed) Study sponsored by the National Heart, Lung and Blood Institute. In addition to her collaborations on statistical genetics, she has also focused on how individuals respond to genetic information, particularly in the context of Alzheimer’s Disease.
Genome-wide association studies have added tremendous knowledge over the past 15 years to our understanding of the genetic contributions to disease. We continue to add to this database of knowledge with additional genomic information through gene expression, DNA methylation, and other genomic information such as metabolomics and proteomics. The main question now is how to translate this knowledge into prevention or therapy for common diseases. In this presentation I will present an overview of what we have learned over the past 15 years from genome-wide association studies and where we stand now. Translating our knowledge into clinical practice is the next major challenge. But how do people respond to genetic information? Are they scared and take dangerous actions? Do they rearrange their lives because they have a deleterious gene? Communicating genetic information to individuals is becoming an important component of clinical conduct, requiring risk information. Having reliable estimates of risk is critical to this avenue of clinical practice.
