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Updated: Aug 30, 2025

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A Mixed-Methods Protocol to Identify Best Practices for Implementing Pharmacogenetic Testing in Clinical Settings.

Nina R Sperber1,2, Deborah Cragun3, Megan C Roberts4

  • 1Department of Population Health Sciences, School of Medicine, Duke University, Durham, NC 27701, USA.

Journal of Personalized Medicine
|August 26, 2022
PubMed
Summary

Implementing pharmacogenetic testing requires understanding provider factors. This study uses implementation science and a mathematical algorithm to identify key drivers for improving its clinical use.

Keywords:
coincidence analysisconfigurational comparative methodshealth services researchimplementation sciencemixed methodspharmacogenomics

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Area of Science:

  • Pharmacogenomics
  • Implementation Science
  • Health Services Research

Background:

  • Personalized medicine, specifically pharmacogenetics, offers clinical benefits but faces low adoption rates.
  • Health systems require strategies to enhance the integration and utilization of pharmacogenetic testing among healthcare providers.
  • Implementation science provides frameworks to understand and address barriers to adopting new clinical practices.

Purpose of the Study:

  • To present a novel approach for studying precision medicine implementation.
  • To identify factors influencing pharmacogenetic test utilization using mixed methods and implementation science.
  • To determine combinations of factors associated with high versus low provider utilization of pharmacogenetic testing.

Main Methods:

  • A two-phase study combining qualitative and quantitative data collection from healthcare providers across four institutions.
  • Utilizing implementation science frameworks to guide data collection and analysis.
  • Employing a Configurational Comparative Method (CCM) with a mathematical algorithm to analyze provider data.

Main Results:

  • Identified salient factors influencing pharmacogenetic testing adoption through provider experiences.
  • The CCM analysis pinpointed necessary and sufficient conditions for distinguishing high from low utilization.
  • The approach is suitable for small to moderate sample sizes and real-world clinical settings.

Conclusions:

  • A mixed-methods approach grounded in implementation science can effectively study pharmacogenetic test utilization.
  • Understanding provider-specific factors and their combinations is crucial for improving the adoption of precision medicine.
  • This methodology offers a robust framework for investigating the implementation of pharmacogenetic testing in diverse clinical environments.