‘Someday it will be the Norm’: Physician Perspectives on the Utility of Genome Sequencing for Patient Care in the Medseqproject

Abstract

Aim To describe practicing physicians’ perceived clinical utility of genome sequencing. Materials & methods We conducted a mixed-methods analysis of data from 18 primary care physicians and cardiologists in a study of the clinical integration of whole-genome sequencing. Physicians underwent brief genomics continuing medical education before completing surveys and semi-structured interviews. Results Physicians described sequencing as currently lacking clinical utility because of its uncertain interpretation and limited impact on clinical decision-making, but they expressed the idea that its clinical integration was inevitable. Potential clinical uses for sequencing included complementing other clinical information, risk stratification, motivating patient behavior change and pharmacogenetics. Conclusion Physicians given genomics continuing medical education use the language of both evidence-based and personalized medicine in describing the utility of genome-wide testing in patient care.

Patients’ Perceived Utility of Whole-Genome Sequencing for Their Healthcare: Findings from the Medseq Project

“…As these items are related to personal utility rather than clinical utility [5], it may be that enthusiasts perceive a broader definition of utility of WGS, even beyond their physicians’ perceived utility of this technology [11]. If confirmed, it will be important for physicians to understand that some patients may expect to make more personal decisions based on WGS, which may necessitate a broader discussion of the nonclinical implications of this information.…”

“…Physician perspectives on the utility of WGS have been previously evaluated using data from the MedSeq Project [11]. Physicians noted that WGS would likely improve risk stratification of patients, lead to better prevention strategies and inform pharmacogenomics strategies.…”

“…Physicians noted that WGS would likely improve risk stratification of patients, lead to better prevention strategies and inform pharmacogenomics strategies. Additionally, like participants evaluated in this analysis, physicians did expect the utility of WGS to increase in the future [11]. Therefore, both patients and physicians in this study largely see the promise and limitations of WGS in its current state.…”

“…Details of the MedSeq Project have been described previously [10,11]. Briefly, cardiologists, primary care physicians and their patients were enrolled in the MedSeq Project.…”

Medical Student Preparedness for an Era of Personalized Medicine: Findings from One us Medical School

“…Recent surveys of current healthcare providers across different specialties have revealed a general lack of knowledge, preparedness and even willingness to use genomics in clinical care [5–8]. This has mostly been observed in the field of pharmacogenomics (PGx), which implicates genetic variants in interindividual drug response variability and was one of the first aspects of personalized medicine to be translated to clinical care [9].…”