GMKBGenetics in Medicine – We have been using the standards and guidelines to classify variants identified using a next-generation sequencing gene panel for individuals with suspected forms of monogenic diabetes, such as maturity-onset diabetes of the young, as part of the Personalized Diabetes Medicine Program, a member project in the National Human Genome Research Institute–funded IGNITE (Implementing Genomics in Practice) Network. This program uses patient characteristics and family history to identify individuals likely to have a monogenic etiology for their diabetes mellitus, which is challenging owing to the similarity of clinical presentation between monogenic diabetes and more common forms of diabetes.
Clinical utility of a Web-enabled risk-assessment and clinical decision support program
Genetics in Medicine – Risk assessment based on the combination of personal and family health history is an effective and essential component of preventive health and is recommended by numerous medical organizations and guideline-making bodies. Examples of risk-management strategies predicated on risk assessment include breast magnetic resonance imaging (MRI), early (age <50 years) colon cancer screening, and BRCAgenetic testing.
Analytical Validation of a Personalized Medicine APOL1 Genotyping Assay for Nondiabetic Chronic Kidney Disease Risk Assessment. The Journal of molecular diagnostics
The Journal of Molecular Diagnostics – We developed an APOL1 genotyping assay using multiplex allele-specific primer extension, and validated using 58 positive and negative controls.
Physician Response to Implementation of Genotype-Tailored Antiplatelet Therapy
Clinical Pharmacology & Therapeutics – Physician responses to genomic information are vital to the success of precision medicine initiatives. We prospectively studied a pharmacogenomics implementation program for the propensity of clinicians to select antiplatelet therapy based on CYP2C19 loss-of-function (LOF) variants in stented patients.
Toward rapid learning in cancer treatment selection: an analytical engine for practice-based clinical data
Journal 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.