GMKBBMC 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.
Pharmacogenetic Allele Nomenclature: International Workgroup Recommendations for Test Result Reporting
Clinical Pharmacology & Therapeutics – This manuscript provides nomenclature recommendations developed by an international workgroup to increase transparency and standardization of pharmacogenetic (PGx) result reporting. Presently, sequence variants identified by PGx tests are described using different nomenclature systems. In addition, PGx analysis may detect different sets of variants for each gene, which can affect interpretation of results. This practice has caused confusion and may thereby impede the adoption of clinical PGx testing. Standardization is critical to move PGx forward.
Integration of Genomics in Primary Care
The American Journal of Medicine – Because gene-environment interactions are dynamic, the utility of gene-based decision support varies over time. Primary care providers will serve a key role as our patients navigate these changes.