Related Experiment Video
Updated: Apr 18, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Rapid collection of biospecimens by automated identification of patients eligible for pharmacoepigenetic studies
1Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, GA 30322, USA. yvsun@emory.edu.
Abstract:
Epigenetics plays an important role in regulating gene expression, and can be modified by environmental factors and physiological conditions. Studying epigenetics is a promising approach to potentially improving the diagnosis, prevention and treatment of human diseases, and to providing personalized medical care. However, the role of epigenetics in the development of diseases is not clear because epigenetic markers may be both mediators and outcomes of human diseases. It is particularly complicated to study pharmacoepigenetics, as medication use may modify the epigenetic profile. To address the challenges facing pharmacoepigenetic research of human diseases, we developed a novel design to rapidly identify, contact, and recruit participants and collect specimens for longitudinal studies of pharmacoepigenetics. Using data in real-time from electronic medical record systems, we can identify patients recently start on new medications and who also have a blood test. Prior to disposal of the leftover blood by the clinical laboratory, we are able to contact and recruit these patients, enabling us to use both their leftover baseline blood sample as well as leftover specimens at future tests. With treatment-naïve and follow-up specimens, this system is able to study both epigenetic markers associated with disease without treatment effect as well as treatment-related epigenetic changes.
More Related Videos
Related Concept Videos
Pharmacogenomics: Identification of New Drug Targets
Pharmacogenetics and Pharmacogenomics: Overview
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes
Pharmacogenetics of Drug Metabolism: Overview
Bioavailability Study Design: Healthy Subjects Versus Patients

