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.

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.

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).

Phenotyping Adverse Drug Reactions: Statin-Related Myotoxicity

AMIA Joint Summits on Translational Science proceedings – This study compares multiple phenotyping approaches for identifying statin-related myotoxicity to highlight potential best practices for identifying adverse drug events. Statins are widely used drugs that decrease risk for cardiovascular disease. Muscle toxicity is the most common side effect (1–5% in randomized controlled trials, 9–20% in observational studies) and reason for statin cessation. Statin-induced myotoxicity is an excellent case study for the challenges involved in phenotyping adverse drug events as it falls along a spectrum of reactions from simple muscle pain to severe muscle break down.

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

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 should be returned in the clinical setting has raised the question of whether comparable recommendations should be considered in research settings.