Personalized or precision medicine is meant to distinguish tailored treatment from trial and error.  The concept of precision medicine is not new and has been in practice arguably since the dawn of modern medicine (PMID:22707730).  Health care providers have long collected detailed data on patients, ranging from basic personal histories to technical laboratory assays and diagnostic procedures, to provide specific diagnoses and treatments.  These tools ordered in the precision medicine setting are constantly evolving.

Today’s concept of precision medicine has evolved to specifically include the genetic profile of a patient in the prevention, diagnosis, and treatment of disease (PMID:20551152; PMID:18349096). Previous proxies for genetic profiles such as sex, race/ethnicity, family history, and response to therapy are now being augmented by Clinical Laboratory Improvement Amendments-certified genotyping and sequencing at both the targeted and whole genome level.  Indeed, technological advances in high-throughput genomics coupled with their rapid decreases in costs have made generating the data almost trivial, and the emergence of electronic health records in part through the HITECH Act (PMID:20042745; PMID:22549152) make it possible to effectively deliver personalized medicine to the patient.

With three major hospital systems accounting for the majority of healthcare in the city, Cleveland is in a unique position to contribute substantially to the research towards the implementation of precision medicine.  Indeed, MetroHealth is especially ripe for precision medicine opportunities given their adoption of electronic health records (EHRs) in the late 1990s compared with more recent adoptions by other clinics in the city.  In 2014 alone, MetroHealth recorded 900,000 outpatient visits demonstrating the potential large sample sizes linked to health and demographic data necessary for precision medicine research.

To accelerate precision medicine research opportunities in Cleveland, we as members of the Institute for Computational Biology and the Department of Epidemiology and Biostatistics are partnering with MetroHealth investigators to ascertain patients for biospecimen collection and the generation of genomic data for risk prediction modeling.  The overall goal of this collaboration is the establishment of frameworks to enable cross-institutional precision medicine research in Cleveland.  More specifically, this pilot study aims to

Enroll patients at MetroHealth for biospecimen collection and election health record (EHR) access.

Generate and incorporate genomic data with clinic data extracted from the EHR for prediction modeling.

Survey participants on attitudes and preferences in return of results.