As background, I’m trained as a human geneticist, but have spent most of my career outside of the laboratory. My research focuses on understanding what factors facilitate or impede the use of genomic medicine applications, both from the perspective of the patient/consumer and the health provider.
But first, what is genomic medicine? Genomic medicine is the use of genetic and genomic information to guide healthcare, including treatment and prevention. Genomic testing examines a person’s DNA (or genetic make-up) to determine how likely that person may develop a certain disease (i.e., disease susceptibility), disease prognosis, how they may respond to a given drug (pharmacogenetic testing), or their risk of having a child with an inherited disease (by knowing that person’s carrier status). Most people are familiar with genetic testing, a test which typically analyzes one gene at a time linked to a given disease or condition. Genomic testing can involve looking at many genes linked to a given disease or condition, using comprehensive testing technologies such as DNA sequencing. However, understanding a person’s genetic make-up does not provide a complete picture of their likelihood to develop a disease or respond to certain drug. Many other factors can impact these risks, such as a person’s family history, diet, lifestyle, and other conditions. Personalized or precision medicine considers all of these factors to tailor a patient’s care.
My group’s research specifically focuses on studying how to effectively communicate genomic test results to patients, assisting patients with understanding the impact of the test result for their health and helping health providers obtain the knowledge resources they need to appropriately deliver genomic medicine. We are particularly interested in developing patient and provider education tools to help patients and providers better understand and discuss these new technologies. For example, for many drug response tests, testing only needs to be done once and therefore, it is important for patients to understand what test was done and what the results were in order to share that information with the next provider that prescribes a new medication. We have developed a web-site to provide resources for both patients and providers on drug response/pharmacogenetic testing — please see www.rxpgx.com.
Our research team is comprised of a genetic counselor, Rachel Mills, MS, CGC, and a clinical pharmacist, Jivan Moaddeb, PharmD. If you would be interested in supporting our work, please visit https://www.gifts.duke.edu and enter my name in the gift designation box. If you’d like to know more about my research, please see https://precisionmedicine.duke.edu/researchers/precision-medicine-programs/pharmacogenomics or email me at email@example.com.