February 11, 2014

Exploring Infrastructure for Sequencing-Based PGx Results in EMRs

By Center for Individualized Medicine

Emerging Infrastructure








Post Originally Featured On GenomeWeb.

Researchers at the Mayo Clinic are forging ahead with a pilot project that will integrate sequencing-based pharmacogenomics data into the electronic medical records of more than 1,000 patients and allow doctors to consider the information when they prescribe certain drugs.

The project is a collaboration between the Pharmacogenomics Research Network (PGRN), the Electronic Medical Records and Genomics Network (eMERGE), and the Mayo Clinic Center for Individualized Medicine, and is one of nine such pilots under the PGRN-eMERGE partnership.

All pilot studies use an 84-gene panel, called PGRN-seq, that contains genes relevant for drug response and side effects. The genes are enriched using NimbleGen in-solution technology and analyzed on Illumina sequencers.

The Mayo Clinic is one of only two eMERGE sites – the other one is Mount Sinai School of Medicine – that are implementing the PGRN-seq test in a CLIA-approved and CAP-certified clinical environment. Sequencing will be conducted at the Mayo Clinic Clinical Genome Sequencing Laboratory and the Personalized Genomics Laboratory.

According to Suzette Bielinski, the study leader and an assistant professor in the division of epidemiology at the Mayo Clinic, setting PGRN-seq up as a clinical test will allow them to include more variants in the EMR than labs that do the sequencing in a research environment and then have to confirm variants by a clinical genotyping test.

And, she said, while targeted genotyping tests, like microarrays, are a cost-effective way to collect SNP variants, they often do not capture other types of variants, and clinically important variants cannot be added at a later point, whereas sequence data includes all those variants.

The study protocol used by the Mayo researchers, called Right Drug, Right Dose, Right Time – Using Genomic Data to Individualize Treatment, or RIGHT, protocol was recently described in the Mayo Clinic Proceedings.

According to the authors, the project "provides an opportunity to begin to evaluate the impact of preemptive sequencing and [electronic medical record]-driven genome-guided therapy" and "improve understanding and implementation of genomic data in clinical practice."

For the project, the researchers recruited 1,013 patients from the Mayo Clinic Biobank cohort that were at increased risk of needing statin therapy within the next three years.

Read the full article here.

Tags: Biobank, dna test, DNA Testing, eMERGE, gene sequencing, genome science, GenomeWeb, genomic medicine, genomics, individualized medicine, personal genomics, personalized medicine, PGRN, pharmacogenomics, predictive medicine, Uncategorized

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