GMKBSage 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.
Determining the effects and challenges of incorporating genetic testing into primary care management of hypertensive patients with African ancestry
Horowitz CR, Abul-Husn NS, Ellis S, Ramos MA, Negron R, Suprun M, Zinberg RE, Sabin T, Hauser D, Calman N, Bagiella E, Bottinger EP
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.
Clinician Perspectives on Using Pharmacogenomics in Clinical Practice
Personalized Medicine – The use of genomic variants to tailor medical therapy is becoming increasingly relevant to routine clinical practice, as medications commonly used in primary care and cardiology practice acquire new indications for pharmacogenomics testing. Advances in pharmacogenomics are marked by the expanding number of drug labels featuring pharmacogenomics guidance, pre-prescription testing endorsed by the Food and Drug Administration, and the growth of prescribing guidelines by the Clinical Pharmacogenomics Implementation Consortium (CPIC). Additionally, laboratory technologies to perform multiplexed genotyping are rapidly becoming more affordable and reliable.
A prognostic model based on readily available clinical data enriched a preemptive pharmacogenetic testing program
Journal of clinical Epidemiology – A growing body of literature relates human genetic variation to drug response. Currently, more than 100 drugs have pharmacogenomic (PGx) information that affects prescribing in Food and Drug Administration (FDA) labels. Such evidence was the impetus behind Vanderbilt University Medical Center’s Pharmacogenomic Resource for Enhanced Decisions in Care & Treatment (PREDICT) program, a quality improvement initiative utilizing preemptive, panel-based genotyping to deliver genotype-tailored prescribing guidance at the point of care.
Protocol for the “Implementation, adoption, and utility of family history in diverse care settings” study
Implementation Science – Risk assessment with a thorough family health history is recommended by numerous organizations and is now a required component of the annual physical for Medicare beneficiaries under the Affordable Care Act. However, there are several barriers to incorporating robust risk assessments into routine care. MeTree, a web-based patient-facing health risk assessment tool, was developed with the aim of overcoming these barriers.
Hypertension pharmacogenomics: in search of personalized treatment approaches
Nature Reviews Nephrology – Cardiovascular and renal diseases are associated with many risk factors, of which hypertension is one of the most prevalent. Worldwide, blood pressure control is only achieved in ~50% of those treated for hypertension, despite the availability of a considerable number of antihypertensive drugs from different pharmacological classes. Although many reasons exist for poor blood pressure control, a likely contributor is the inability to predict to which antihypertensive drug an individual is most likely to respond.
CYP2C19 and CES1 polymorphisms and efficacy of clopidogrel and aspirin dual antiplatelet therapy in patients with symptomatic intracranial atherosclerotic disease
Journal of Neurosurgery – Symptomatic intracranial atherosclerotic disease (ICAD) has a high risk of recurrent stroke. Genetic polymorphisms in CYP2C19 and CES1 are associated with adverse outcomes in cardiovascular patients, but have not been studied in ICAD. The authors studied CYP2C19 and CES1 single-nucleotide polymorphisms (SNPs) in symptomatic ICAD patients.