Strategies and Settings of Clinical Pharmacogenetic Implementation: a Scoping Review of Pharmacogenetics Programs

Abstract

Pharmacogenetic (PGx) literature has shown beneficial outcomes in safety, efficacy and cost when evidence-based gene-drug decision making is incorporated into clinical practice. PGx programs with successfully implemented clinical services have been published in a variety of settings including academic health centers and community practice. The primary objective was to systematically scope the literature to characterize the current trends, extent, range and nature of clinical PGx programs. Forty articles representing 19 clinical PGx programs were included in analysis. Most programs are in urban, academic institutions. Education, governance and workflow were commonly described while billing/reimbursement and consent were not. This review provides an overview of current PGx models that can be used as a reference for institutions beginning the implementation process.

Revisiting Secondary Information Related to Pharmacogenetic Testing

“…As clinical evidence continues to accumulate, the number of associations of PGx variants (and non-PGx variants) with responses to multiple medications as well as disease risk linked to their endogenous roles (Nebert and Dalton, 2006) will likely expand as presaged by the growing ACMG list. Although secondary findings have been known for some time, reports of different group's experiences with implementing PGx testing do not mention challenges related to management of secondary findings (Pasternak et al, 2020;Luczak et al, 2021). This lack of mention may be due to inadequate evidence of many PGx secondary findings, the limited number of validated secondary findings, or a lack of reporting by clinical PGx testing laboratories (due to absence of standards on reporting).…”

“…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).…”

Cancer Pharmacogenetics: perspective on newly discovered and implemented predictive biomarkers

“…Clinical PGx programs utilizing implementation models have been reported since the early 2000s and continue to be published in a variety of healthcare settings including academic health centers, primary care and community practice adopting both preemptive and point-of-care testing (43) (45). A multicentric prospective, controlled, block-randomized clinical trial (PREemptive Pharmacogenomic testing for prevention of Adverse drug Reactions, PREPARE) initiated in 7 European countries including Italy with the financial support of the European Community Horizon 2020 recently concluded.…”

How to implement a pharmacogenetics service at your institution

“…12 This paper combines lessons learned from the authors' practice within University of Florida (UF) Health and information available in the published literature from other early adopters of pharmacogenetics to discuss various steps and best practices for implementing a clinical pharmacogenetics service. [13][14][15][16] The purpose of this paper is to provide a foundation and guidance for pharmacists wishing to initiate a clinical pharmacogenetics service at their institution.…”