User considerations in assessing pharmacogenomic tests and their clinical support tools

Abstract

Pharmacogenomic (PGx) testing is gaining recognition from physicians, pharmacists and patients as a tool for evidence-based medication management. However, seemingly similar PGx testing panels (and PGx-based decision support tools) can diverge in their technological specifications, as well as the genetic factors that determine test specificity and sensitivity, and hence offer different values for users. Reluctance to embrace PGx testing is often the result of unfamiliarity with PGx technology, a lack of knowledge about the availability of curated guidelines/evidence for drug dosing recommendations, and an absence of wide-spread institutional implementation efforts and educational support. Demystifying an often confusing and variable PGx marketplace can lead to greater acceptance of PGx as a standard-of-care practice that improves drug outcomes and provides a lifetime value for patients. Here, we highlight the key underlying factors of a PGx test that should be considered, and discuss the current progress of PGx implementation.

Drug Use among Nursing Home Residents in Denmark for Drugs Having Pharmacogenomics Based (PGx) Dosing Guidelines: Potential for Preemptive PGx Testing

“…In spite of this, the use of PGx-based tests have not gained foothold in daily clinical practice probably because the significance has not been recognized, but also because skepticism has been expressed due to question marks about evidence levels [30,31]. However, the main barriers seem to be awareness from physicians and pharmacists as well as validated decision tools and organizational structures requiring multiple specialists being involved in planning and execution [31][32][33]. In addition, it has so far not been considered how the patients' test results should be stored and disseminated in the health care system.…”

Clinical Utilization of Pharmacogenetics in Psychiatry – Perspectives of Pharmacists, Genetic Counselors, Implementation Science, Clinicians, and Industry

“…The variability in the composition of psychiatric gene testing panels offered by commercial laboratories poses challenges to test evaluation [26,45,81]. Several studies have been conducted to ascertain the clinical benefit of PGx testing, yet more evidence is needed to move PGx testing into mainstream practice and inform practice guidelines.…”

Pharmacogenomic Profiling of ADME Gene Variants: Current Challenges and Validation Perspectives

“…The empowering of clinical research, as validation studies of discovered genetic variants, will help the optimization of sample size and the translation would finally lead to the assessment of clinical utility for identified drug–gene interactions in order to set robust biomarkers for clinical usage. Another issue to consider in targeted genotyping is the ethnic differences in the population, which might limit the selection of genomic variants common in specific population and missing in others [28]. An example is represented by CYP2C9*2 and CYP2C9*3 , two variant alleles with reduced function important for response to warfarin which are common in Caucasians but rare in African-Americans [29].…”