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American Journal of Human Genetics – As more research studies incorporate next-generation sequencing (including whole-genome or whole-exome sequencing), investigators and institutional review boards face difficult questions regarding which genomic results to return to research participants and how. An American College of Medical Genetics and Genomics 2013 policy paper suggesting that pathogenic mutations in 56 specified genes …

Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between Read More »

Pharmacotherapy – Pharmacists are uniquely qualified to play essential roles in the clinical implementation of pharmacogenomics. However, specific responsibilities and resources needed for these roles have not been defined. We describe roles for pharmacists that emerged in the clinical implementation of genotype-guided clopidogrel therapy in the University of Florida Health Personalized Medicine Program, summarize preliminary program …

Emerging Roles for Pharmacists in Clinical Implementation of Pharmacogenomics Read More »

Clinical Pharmacology & Therapeutics – Simvastatin is among the most commonly used prescription medications for cholesterol reduction. A single coding single-nucleotide polymorphism, rs4149056T>C, in SLCO1B1 increases systemic exposure to simvastatin and the risk of muscle toxicity.

Interventional Cardiology Clinics- This review describes genetic contributions to variable response to platelet P2Y12 inhibitors, guidelines for selecting antiplatelet therapy based on genotype, and examples of clinical implementation of genotype-guided antiplatelet therapy after PCI.

Future Cardiology – Clopidogrel is an ideal target for pharmacogenetic intervention for several reasons. First, there is a strong association between genotype, in this case CYP2C19 genotype, and clopidogrel effectiveness [1]. Second, the consequences of reduced clopidogrel effectiveness, namely adverse cardiovascular events, can be life threatening and costly. Because of these reasons, an increasing number of institutions …

Clopidogrel pharmacogenetics: from evidence to implementation Read More »

Genetics 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 …

An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variants Read More »

As CEO, Denny will oversee NIH’s efforts to build one of the largest and most comprehensive precision medicine research platforms in the world, in partnership with a diverse network of awardees and participants. Read the announcement from NIH Director Francis Collins, M.D., Ph.D.

Journal of the National Cancer Institute – Loss of functional genetic polymorphisms in CYP2D6 lead to the absence of functional CYP2D6 protein in approximately 5% to 10% of whites (people of European ancestry) and 1% to 2% of those of Asian and African ancestry. In the literature, these are commonly referred to as CYP2D6–poor metabolizers (PMs). …

Loss of Heterozygosity at the CYP2D6 Locus in Breast Cancer: Implications for Tamoxifen Pharmacogenetic Studies Read More »

The DNA of Pharmacy Education: CAPE Outcomes and Pharmacogenomics – Pharmacogenomics (PGx) is a rapidly evolving area of precision (i.e., personalized) medicine in which a patient’s genomic information is used to identify the safest and most effective treatment. While basic pharmacogenomic concepts have developed over the past 50 years, the pace of genomic research accelerated …

The DNA of Pharmacy Education: CAPE Outcomes and Pharmacogenomics Read More »

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.