The convergence of translational genomics and biomedical informatics has changed healthcare delivery. Institutional consortia have begun implementing lab testing and decision support for drug–gene interactions. Aggregate datasets are now revealing the impact of clinical decision support for drug–gene interactions. Given the pleiotropic nature of pharmacogenes, interdisciplinary teams and robust clinical decision support tools must exist within an informatics framework built to be flexible and capable of cross-talk between clinical specialties. Navigation of the challenges presented with the implementation of five steps to build a genetics program infrastructure requires the expertise of multiple healthcare professionals. Ultimately, this manuscript describes our efforts to place pharmacogenomics in the hands of the primary care provider integrating this information into a patient’s healthcare over their lifetime.
Large-scale genetics education appropriate for general practice providers is a growing priority. We describe the content and impact of a mandatory system-wide program implemented at Sanford Health. Methods: The Imagenetics Initiative at Sanford Health developed a 2-year genetics education program with quarterly web-based modules that were mandatory for all physicians and advanced practice providers. Scores of 0 to 5 were calculated for each module on the basis of the number of objectives that the participants reported as fulfilled. In addition, the participants completed surveys before starting and after finishing the education program, which included a 7-item measure scored 7 to 28 on the perceived preparedness to practice genetics. Results: Between 2252 and 2822 Sanford Health employees completed each of the 8 quarterly education modules. The ratings were highest for the module about using genomics to improve patient management (mean score = 4.3) and lowest for the module about different types of genetic tests and specialists. The mean perceived preparedness scores increased from 15.7 at preeducation to 19.1 at post-education (P < .001). Conclusion: Web-based genetics education was highly effective in increasing health care providers' confidence about using genetics. Both comfort with personal knowledge and confidence regarding access to the system's genomic medicine experts increased significantly. The results demonstrate how scalable approaches can improve provider preparedness.
Background: Medication reconciliation is recognized as a critically important medication safety element and a key initiative by multiple organizations. Within our precision medicine program, accurate medication lists are essential to our ability to make specific medication recommendations based on pharmacogenetic results. Our study aimed to identify discrepancies within the patient's medication list to improve medication management via genetic factors through a pharmacy team-based approach.Methods: A dedicated team of pharmacists and trained student pharmacists conducted telephone interviews to complete medication reconciliation for individuals enrolled in our precision medicine preemptive screening program. Medication list discrepancies were tracked as well as if pharmacogenetic consults were altered by findings during the telephone interviews.Results: Medication reconciliation was completed on 465 participants who had recently received or were awaiting pharmacogenetic testing. We found similar results to previously described rates of medication list discrepancies with an average of 4.9 medication discrepancies per patient as well as greater than 90% of individuals having at least one medication discrepancy. Pharmacogenetic recommendations for 20 individuals (4.3%) required adjustment following medication reconciliation.Conclusions: This pilot program supports the value of a dedicated team for medication reconciliation and the importance of accurate medication lists to optimize precision medicine programs.
Aim: This manuscript describes implementation of clinical decision support for providers concerned with perioperative complications of malignant hyperthermia susceptibility. Materials & methods: Clinical decision support for malignant hyperthermia susceptibilit was implemented in 2018 based around our preemptive genotyping platform. We completed a brief descriptive review of patients who underwent preemptive testing, focused particularly on RYR1 and CACNA1S genes. Results: To date, we have completed preemptive genetic testing on more than 10,000 patients; 13 patients having been identified as a carrier of a pathogenic or likely pathogenic variant of RYR1 or CACNA1S. Conclusion: An alert system for malignant hyperthermia susceptibilit – as an extension of our preemptive genomics platform – was implemented successfully. Implementation strategies and lessons learned are discussed herein.
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