GMKBJournal of Biomedical Informatics – The promise of leveraging vast medical record data to guide clinical decision making has created growing support for the development of “Rapid Learning Systems” (RLS) that gather and leverage practice-based clinical evidence for real-time clinical decision support. The need for such systems is particularly evident within the field of oncology, where controlled clinical trial evidence is only available to guide therapy in a minority of patients.
Impact of GGCX, STX1B and FPGS Polymorphisms on Warfarin Dose Requirements in European‐Americans and Egyptians
Clinical and Translational Science – Genotype‐based algorithms that include VKORC1 and CYP2C9 genotypes are less predictive of warfarin dose variability in Africans as opposed to Europeans. Polymorphisms in GGCX, FPGS, or STX1B are associated with warfarin dose requirements in African‐Americans. We sought to determine if they influenced warfarin dose in European‐Americans, and another African population, specifically Egyptians.
Implementing and Improving Automated Electronic Tumor Molecular Profiling
Journal of Oncology Practice – Oncology practice increasingly requires the use of molecular profiling of tumors to inform the use of targeted therapeutics. However, many oncologists use third-party laboratories to perform tumor genomic testing, and these laboratories may not have electronic interfaces with the provider’s electronic medical record (EMR) system.
Integrating electronic health record genotype and phenotype datasets to transform patient care
Clinical Pharmacology & Theraputics – The Health Information Technology for Economic and Clinical Health (HITECH) Act of 2009 mandates the development and implementation of electronic health record (EHR) systems across the country. While a primary goal is to improve the care of individual patients, EHRs are also key enabling resources for a vision of individualized (or personalized or precision) medicine: the aggregation of multiple EHRs within or across healthcare systems should allow discovery of patient subsets that have unusual and definable clinical trajectories that deviate importantly from the expected response in a “typical” patient.
FDA’s Draft Guidance on Laboratory-Developed Tests Increases Clinical and Economic Risk to Adoption of Pharmacogenetic Testing
The Journal of Clinical Pharmacology – The US Food and Drug Administration (FDA) notified Congress July 31, 2014,1 of its intent to regulate laboratory developed tests. These encompass thousands of clinical assays currently used in medical practice including most pharmacogenetic tests. This guidance has the potential to impact the innovation and sustainability of pharmacogenetic research and its clinical implementation.
Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes
The Journal of Molecular Diagnostics – Pharmacogenetic tests are used to predict or explain an individual’s reaction to drugs by assaying for the presence or absence of known genetic polymorphisms in genes encoding drug metabolizing enzymes, drug transporters, drug receptors, or targets of drug action.
Pharmacogenomically actionable medications in a safety net health care system
Sage Open Medicine – The implementation of pharmacogenomics is increasingly relevant at the population level. Nearly 70% of Americans take at least one medication and more than 20% take five or more, with spending on medications projected to be over US$457 billion by 2019. Defined as the study of genetic variation associated with drug response, pharmacogenomics seeks to understand how genes affect the pharmacokinetics and pharmacodynamics of drugs.
The IGNITE network: a model for genomic medicine implementation and research
BMC Medical Genetics – Patients, clinicians, researchers and payers are seeking to understand the value of using genomic information (as reflected by genotyping, sequencing, family history or other data) to inform clinical decision-making. However, challenges exist to widespread clinical implementation of genomic medicine, a prerequisite for developing evidence of its real-world utility.
Guiding Oncology Patients Through the Maze of Precision
Journal of Health Communications – The study results demonstrate that providing information based on health literacy and learning style principles can improve patient understanding of genetic concepts, thus increasing their likelihood of taking an active role in any decision-making concerning their health.
Undiagnosed MODY: Time for Action
Current Diabetes Report – Maturity-Onset Diabetes of the Young (MODY) is a monogenic form of diabetes that accounts for at least 1% of all cases of diabetes mellitus. MODY classically presents as non-insulin requiring diabetes in lean individuals younger than 25 with evidence of autosomal dominant inheritance, but these criteria do not capture all cases and can also overlap with other diabetes types. Genetic diagnosis of MODY is important for selecting the right treatment, yet ~95% of MODY cases in the U.S. are misdiagnosed.