Integrating pharmacogenetic testing into primary care

Abstract

Introduction Pharmacogenetic (PGx) testing has greatly expanded due to enhanced understanding of the role of genes in drug response and advances in DNA-based testing technology development. As many primary care visits result in a prescription, the use of PGx testing may be particularly beneficial in this setting. However, integration of PGx testing may be limited as no uniform approach to delivery of tests has been established and providers are ill-prepared to integrate PGx testing into routine care. Areas covered In this paper, the readiness of primary care practitioners are reviewed as well as strategies to address these barriers based on published research and ongoing activities on education and implementation of PGx testing. Expert Commentary Widespread integration of PGx testing will warrant continued education and point-of-care decisional support. Primary care providers may also benefit from consultation services or team-based care with laboratory medicine specialists, pharmacists, and genetic counselors.

A blockchain-based framework to support pharmacogenetic data sharing

“… # Identified design requirements Barriers and challenges Studies R1 Security and privacy • Secure storage of the PGx data • Unauthorised access to PGx data • Preserving patient privacy and confidentiality when outsourceing data [ 29 – 47 ] R2 Accessibility • Limited data sharing • Time lag to receive the results • Lack of infrastructure and standardised processes for storing, accessing PGx data •And reporting results efficiently • Communicate results to patients [ 29 , 40 , 43 , 44 , 48 – 59 ] R2 Interoperability • Difficulties of integrating PGx data with the EHR • Low degree of connectivity between different PGx resources • Lack of a link between several software-systems • Integrating PGx testing into existing services [ 29 , 43 , 45 – 48 , 50 , 52 – 55 , 58 – 61 ] R4 Traceability • Lack of transparency • Uncertainty of about the appropriate level of oversight • Lack of patient engagement in care decision making • Future use of patient PGx data • Who could have access to PGx data? [ 42 , 44 , 59 , 61 , 62 ] R5 Legal Compliance • Autonomy and informed consent issues • Risk of discrimination • Misuse of patient data • Legal uncertainty • Lack of accountability regarding PGx data ownership [ 30 , 33 , 35 – 38 , 50 , 61 , …”

Implementation of Pharmacogenomics and Artificial Intelligence Tools for Chronic Disease Management in Primary Care Setting

“…Grant funding is often a key component of expanded pharmacogenomic testing beyond the narrow scope provided by the healthcare system in the US. The Vanderbilt University [ 18 ] and Duke University Health Systems [ 38 ] have robust, interprofessional clinical pharmacogenomic programs, but it is unclear the degree to which access to unreimbursed bioanalytical technology constrains the scope and scale of their efforts to study pharmacogenomic testing at scale, in a clinical setting.…”

Assessing the impact of pre‐test education on patient knowledge, perceptions, and expectations of pharmacogenomic testing to guide antidepressant use

“…Practice varies, but often physicians (primary care or psychiatry) facilitate PGx testing, as opposed to pharmacists or genetic counselors. Consensus guidelines for pre‐test counseling about PGx testing do not exist (Zierhut et al, 2017) and discussion about PGx testing may be hindered by limited provider knowledge in some settings (Haga, 2017). Studies suggest that patients have high expectations that PGx testing will lead to improvement in depression treatment (Lemke et al, 2018; Liko et al, 2020) and report limited understanding of PGx test results (Haga et al, 2015; Haga & Liu, 2019).…”