Dr. Crawford’s laboratory accesses large-scale epidemiologic and clinical data in electronic health records to characterize common and rare genetic variants associated with human diseases. A particular interest is in identifying pleiotropy (when a single gene influences two or more seemingly unrelated physical traits) and environmental modifiers of genetic associations, including pharmacogenomics (the study of how genes affect a person’s response to drugs). She has published more than 160 peer-reviewed manuscripts. Among her accomplishments was serving as principal investigator of the NIH’s Electronic Medical Records & Genomics (eMERGE) Network Coordinating Center and co-chair of the eMERGE Network’s Genomics Working Group. She also played a leadership role in the NIH’s Population Architecture using Genomics and Epidemiology (PAGE) study. She is currently serving a three-year term as an elected member of the American Society of Human Genetics Board of Directors.
There are many challenges to overcome to make health and genome sequence data part of routine health care: regulatory and reimbursement aspects, infrastructure requirements, or the challenges of ordering the tests and making the results available to the physician. This session will focus on some of these issues.