GMKBClinical Pharmacology & Therapeutics – Translation of pharmacogenetics to clinical practice is increasingly common. However, most data arise in people of European ancestry, so clinical translation in non-Europeans can be challenging. Depending on the population being assessed, a polymorphism’s effect can differ in magniture or be absent. Studies in minorities are therefore essential as they present opportunities for discovery that would be missed through European-only studies, and they ensure that all populations benefit from clinical pharmacogenetics.
Clinical Pharmacogenetics Implementation
American Journal of Medical Genetics – Current challenges exist to widespread clinical implementation of genomic medicine and pharmacogenetics. The University of Florida (UF) Health Personalized Medicine Program (PMP) is a pharmacist-led, multidisciplinary initiative created in 2011 within the UF Clinical Translational Science Institute. Initial efforts focused on pharmacogenetics, with long-term goals to include expansion to disease-risk prediction and disease stratification. Herein we describe the processes for development of the program, the challenges that were encountered and the clinical acceptance by clinicians of the genomic medicine implementation.
Implementing family health history risk stratification in primary care: Impact of guideline criteria on populations and resource demand
American Journal of Medical Genetics – The Genomic Medicine Model aims to facilitate patient engagement, patient/provider education of genomics/personalized medicine, and uptake of risk‐stratified evidence‐based prevention guidelines using MeTree, a patient‐facing family health history (FHH) collection and clinical decision support (CDS) program. Here we report the number of increased risk (above population‐level risk) patients identified for breast/ovarian cancer, colon cancer, hereditary syndrome risk, and thrombosis; the prevalence of FHH elements triggering increased‐risk status; and the resources needed to manage their risk.
Attitudes toward Adopting Genome-Guided Prescribing through Clinical Decision Support
Journal of Personalized Medicine – This study assessed physician attitudes toward adopting genome-guided prescribing through clinical decision support (CDS), prior to enlisting in the Clinical Implementation of Personalized Medicine through Electronic Health Records and Genomics pilot pharmacogenomics project (CLIPMERGE PGx).
Quality of family history collection with use of a patient facing family history assessment tool
BMC Family Practice – Studies have shown that the quality of family health history (FHH) collection in primary care is inadequate to assess disease risk. To use FHH for risk assessment, collected data must have adequate detail
Development and preliminary evaluation of an online educational video about whole-genome sequencing for research participants, patients, and the general public
Journal of Community Genetics – Structured interviews, including open-ended and closed-ended questions, were conducted with 205 patients in an inner-city hospital outpatient clinic.
Collection of family health history for chronic diseases in primary care
North Carolina Medical Journal – Family health history can predict a patient’s risk for common complex diseases. This project assessed the completeness of family health history data in medical charts and evaluated the utility of these data for performing risk assessments in primary care.
Patient and primary care provider experience using a family health history collection, risk stratification, and clinical decision support tool: a type 2 hybrid controlled implementation-effectiveness trial
BMC Family Practice – Family health history (FHH) is the single strongest predictor of disease risk and yet is significantly underutilized in primary care. We developed a patient facing FHH collection tool, MeTree©, that uses risk stratification to generate clinical decision support for breast cancer, colorectal cancer, ovarian cancer, hereditary cancer syndromes, and thrombosis.
Collection of family health history for assessment of chronic disease risk in primary care.
North Carolina Medical Journal – Family health history can predict a patient’s risk for common complex diseases. This project assessed the completeness of family health history data in medical charts and evaluated the utility of these data for performing risk assessments in primary care.
Development and Validation of a Primary Care-Based Family Health History and Decision Support Program (MeTree)
North Carolina Medicine Journal – Family health history is a strong predictor of disease risk. To reduce the morbidity and mortality of many chronic diseases, risk-stratified evidence-based guidelines strongly encourage the collection and synthesis of family health history to guide selection of primary prevention strategies. However, the collection and synthesis of such information is not well integrated into clinical practice. To address barriers to collection and use of family health histories, the Genomedical Connection developed and validated MeTree, a Web-based, patient-facing family health history collection and clinical decision support tool.