Genomics in the Clinic: Identity, Responsibility and Choice

Michigan State University, East Lansing MI

Investigators

Linked publications & trials

Abstract

DESCRIPTION (provided by applicant): Recent progress in genomic science has been accompanied by great expectations that we are on the verge of a medical revolution where genetic knowledge of the complex interaction between multiple genes and the environmental/behavioral factors impacting their expression, will redefine illness and health, guiding risk prediction, disease diagnosis and treatment strategies. As yet, with a few notable exceptions, the promise of genetically driven diagnoses and treatment remains largely theoretical. Still, genomic concepts have captured the imagination of the scientific community and lay public alike, and genomic concepts increasingly influence how practitioners and patients understand and address illness. Current clinical guidelines/standards commonly assume genetic factors are central to many chronic illnesses, and while genetic tests and treatments are only in the developmental stage for most conditions, many urge the use of race/ethnicity as a proxy for presumed genetic factors. At the same time, the increasingly common electronic health records (EHRs), and their imbedded decision tools and quality monitoring systems, codify and systematize clinical applications of such guidelines/standards. While enthusiastically heralded as useful innovations that will promote and standardize quality care, little is known about how genomic concepts are being incorporated into EHR systems, and how they in turn impact everyday health care, especially for diverse populations. The proposed study will examine how genomic concepts and discourse are being integrated into clinical management of type 2 diabetes. Type 2 diabetes is a disease well-known to differentially impact diverse populations. It is also especially apt for a genomic model of care: emerging clinical literature emphasizes the role of genetics in diabetes onset and management, while family history and lifestyle choices remain central concerns. Using ethnographic research techniques, the proposed study will contrast practitioner and patient perspectives to capture ethical and practical dimensions of invoking these concepts in everyday care. The study will be conducted in Diabetes Management Centers serving diverse patient populations, where EHRs have been recently introduced. We will interview clinicians and patients, observe clinical interactions, and review EHR forms, records and reports. We anticipate that racial identity will be used as a proxy for genetic variation, and that this usage will be codified into EHR systems, which in turn will differentially impact clinical decision-making and patient self-perception for diverse patients. Ou specific aims are: 1) Examine how practitioners incorporate genomic discourse and concepts into existing understandings of group identity and individual responsibility in managing chronic illness; 2) Understand patients' interpretations of these concepts and of their own identity, risk status and treatment responsibility; and 3) Examine how electronic health records and related technologies incorporate genomic discourse and concepts of racial/ethnic difference, and their effect on clinical care choices, especially as they may differentially impact diverse patient groups