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.

Advancing pharmacogenomics as a component of precision medicine: How, where and who?

Clinical & Pharmacology & Therapeutics – Pharmacogenomics is an important element of precision medicine. Advances in pharmacogenomics implementation have been made but significant barriers remain, including evidence, reimbursement, and clinician knowledge, among others. Widespread adoption of pharmacogenomics requires overcoming these barriers, a clinician champion group, which we propose will be pharmacists, and an easily accessible setting, which may be the community pharmacy.

When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority

The Journal of Pediatrics – The landscape of pediatric research is becoming more complex. Contemporary research studies, and genome studies in particular, frequently involve a range of research activities. For example, the Clinical Sequencing Exploratory Research (CSER) Consortium studies evaluate whether genomic testing can be useful in clinical settings. These studies include the storage of biosamples for future research, observations about the way providers interact with results reported in electronic health records, and the contribution of data to national databases like ClinVar and the Database of Genotypes and Phenotypes (dbGaP).

Pharmacogenomics of Hypertension and Heart Disease

Current Hypertension Report – Heart disease is a leading cause of death in the United States, and hypertension is a predominant risk factor. Thus, effective blood pressure control is important to prevent adverse sequelae of hypertension, including heart failure, coronary artery disease, atrial fibrillation, and ischemic stroke. Over half of Americans have uncontrolled blood pressure, which may in part be explained by interpatient variability in drug response secondary to genetic polymorphism.

Attitudes of Clinicians Following Large-Scale Pharmacogenomics Implementation

Pharmacogenomics Journal – Clinician attitudes towards multiplexed genomic testing may be vital to the success of translational programs. We surveyed clinicians at an academic medical center about their views on a large pharmacogenomics implementation, the PREDICT (Pharmacogenomic Resource for Enhanced Decisions in Care & Treatment) program.

Cypiripi: exact genotyping of CYP2D6 using high-throughput sequencing data

Bioinformatics – Response to a large number of clinically prescribed drugs varies significantly among individuals. Although some patients show a good response to a medication, the same treatment might fail in others or cause serious side effects, which can even result in the death of the patient (). In many cases, an individual’s genetic makeup has been recognized as one of the potential causes of treatment failures