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Updated: Dec 24, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Participatory Genomic Testing Can Effectively Disseminate Cardiovascular Pharmacogenomics Concepts within Federally
Amber Johnson1, Stephen Broughton1, Lisa Aponte-Soto2,3
1University of Pittsburgh; Pittsburgh, PA.
Objective:
We assessed feasibility of an educational program designed to enhance stakeholder knowledge and perceptions of pharmacogenomics at a federally qualified health center (FQHC).
Design:
FQHCs have a rich history of providing care to the underserved, but often are not represented by studies evaluating cutting-edge concepts. We used a novel educational platform to provide participatory genomic testing and classroom education. We assessed participant knowledge and perceptions using questionnaires between May and July 2018.
Setting:
We partnered with a FQHC affiliated with an academic medical center in Chicago.
Participants:
Using convenience sampling, we recruited 20 providers and 10 community members for a feasibility study. Providers included physicians, physician extenders, community health workers, and patient health navigators. Community members were patients, supporters, and/or FQHC advisory board members.
Intervention:
Participants had the option to undergo personal genomic testing. Online educational modules included basic genetics, cardiovascular pharmacogenomics, and personalized medicine. Education concluded in a 2-hour live course with case-based discussions.
Main Outcome Measures:
Our main outcome was testing pilot feasibility. Baseline knowledge and perceptions were compared with post-intervention assessments using descriptive statistics, t tests (or Wilcoxon rank-sum) for continuous variables and chi-squared (or Fisher's exact) for categorical variables.
Results:
We found that attitudes toward the intervention were positive and remained so after intervention. Our intervention was both feasible and acceptable. Genomics knowledge increased for nearly all participants.
Conclusions:
We have determined that a pharmacogenomics educational program tailored for an underrepresented community is feasible and acceptable. Outcomes will advise methodology for larger implementation studies.

