Utility of a genomic-based, personalized medicine test in patients presenting with symptoms suggesting coronary artery disease

J Am Board Fam Med. 2014 Mar-Apr;27(2):258-67. doi: 10.3122/jabfm.2014.02.130155.

Abstract

Purpose: Better methods are needed to assess patients presenting with symptoms suggestive of obstructive coronary artery disease (CAD). We hypothesized that the use of a gene expression score (GES) would lead to a change in the diagnostic evaluation.

Methods: The Primary Care Providers Use of a Gene Expression Test in Coronary Artery Disease Diagnosis (IMPACT-PCP) trial (clinical trial identifier NCT01594411, clinicaltrials.gov) was a prospective study of stable, nonacute, nondiabetic patients presenting with chest pain and related symptoms at 4 primary care practices. All patients underwent GES testing, with clinicians documenting their planned diagnostic strategy both before and after GES. The GES was derived from a peripheral blood draw measuring expression of 23 genes and has been shown to have a 96% negative predictive value for excluding the diagnosis of obstructive CAD.

Results: Of the 251 study patients, 140 were women (56%); the participants had a mean age of 56 years (standard deviation, 13.0) and a mean body mass index of 30 mg/kg(2) (standard deviation, 6.7). The mean GES was 16 (range, 1-38), and 127 patients (51%) had a low GES ([ltqeu]15). A change in the diagnostic testing pattern before and after GES testing was noted in 145 of 251 patients (58% observed vs. 10% predefined expected change; P < .001).

Conclusions: Incorporation of the GES into the diagnostic workup showed clinical utility above and beyond conventional clinical factors by optimizing the patient's diagnostic evaluation.

Keywords: Cardiovascular Abnormalities; Genetics; Medical Decision Making; Practice-based Research; Technology Assessment.

Publication types

  • Clinical Trial
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Coronary Artery Disease / diagnosis*
  • Coronary Artery Disease / genetics
  • Female
  • Follow-Up Studies
  • Gene Expression Profiling*
  • Genetic Markers
  • Genetic Testing / methods*
  • Genomics*
  • Humans
  • Male
  • Middle Aged
  • Precision Medicine / methods*
  • Predictive Value of Tests
  • Prospective Studies

Substances

  • Genetic Markers

Associated data

  • ClinicalTrials.gov/NCT01594411