Challenges and Opportunities in Implementing Pharmacogenetic Testing in Clinical Settings

Abstract

The clinical implementation of pharmacogenetic biomarkers continues to grow as new genetic variants associated with drug outcomes are discovered and validated. The number of drug labels that contain pharmacogenetic information also continues to expand. Published, peer-reviewed clinical practice guidelines have also been developed to support the implementation of pharmacogenetic tests. Incorporating pharmacogenetic information into health care benefits patients as well as clinicians by improving drug safety and reducing empiricism in drug selection. Barriers to the implementation of pharmacogenetic testing remain. This review explores current pharmacogenetic implementation initiatives with a focus on the challenges of pharmacogenetic implementation and potential opportunities to overcome these challenges. Expected final online publication date for the Annual Review of Pharmacology and Toxicology, Volume 61 is January 7, 2021. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

Real-World Impact of a Pharmacogenomics-Enriched Comprehensive Medication Management Program

“…Further, a variety of positive economic, clinical, and humanistic outcomes (ECHO) associated with PGx have also been described. Thus, while implementational challenges exist [ 2 , 20 , 21 , 22 ], it is clear that PGx enhances healthcare delivery at multiple levels.…”

Clinical Implementation of DPYD Pharmacogenetic Testing to Prevent Early-Onset Fluoropyrimidine-Related Toxicity in Cancer Patients in Switzerland

“…For example, PharmGKB, a public online knowledge base managed by Stanford University, has collected and curated information on over 740 drugs, 175 clinical guidelines and 810 drug label annotations approved by agencies for therapeutic products and pharmaceuticals in Europe (EMA), the United States of America (FDA), Japan (PMDA), Canada (HCSC) and Switzerland [swissmedic; ( PharmGKB, 2022 ; Whirl-Carrillo et al, 2012 , 2021 )]. Despite the evidence for its clinical relevance, the implementation of pharmacogenetics into clinical practice has not achieved wide uptake because of specific barriers such as common time lags between scientific discoveries and clinical uptake, lack of competence and comfort for use by physicians due to limited education as well as logistical challenges, e.g., timely reporting of genetic test results ( Krebs and Milani, 2019 ; Weitzel et al, 2019 ; Chang et al, 2021 ).…”

Revisiting Secondary Information Related to Pharmacogenetic Testing

“…Pharmacogenetic (PGx) testing has been implemented in a variety of clinical settings, including inpatient and outpatient settings (Cavallari et al, 2016;Schuh and Crosby, 2019;Smith et al, 2020;Dong et al, 2021), community pharmacies (Ferreri et al, 2014), academic medical centers (Hicks et al, 2012), executive health programs (Liko et al, 2021), and nursing homes (Dorfman et al, 2020). Despite the excitement for the field to improve therapeutic decision-making, the early adopters of PGx testing have highlighted some barriers, demonstrating the complexity of initiating a new type of testing with multiple types of delivery approaches, and limited provider awareness and clinical decision support (Klein et al, 2017;Moyer and Caraballo, 2017;Lanting et al, 2020;Omer, 2020;Chang et al, 2021;Luczak et al, 2021). The debate about the value of PGx testing continues as more evidence is gathered (Davis et al, 2021;Hicks et al, 2021), impacted by when and where testing is delivered, the type of test, and cost-effectiveness (Janssens and Deverka, 2014;Plumpton et al, 2019).…”