Pharmacogenetics in the clinical analysis laboratory: clinical practice, research, and drug development pipeline

ABSTRACT

Introduction: Over the last decade, the spread of next-generation sequencing technology along with the rising cost in health management in national health systems has led to widespread use/abuse of pharmacogenetic tests (PGx) in the practice of many clinical disciplines. However, given their clinical significance, it is important to standardize these tests for having an interaction with the clinical analysis laboratory (CAL), in which a PGx service can meet these requirements.

Areas covered: A diagnostic test must meet the criteria of reproducibility and validity for its utility in the clinical routine. This present review mainly describes the utility of introducing PGx tests in the CAL routine to produce correct results useful for setting up personalized drug treatments.

Expert opinion: With a PGx service, CALs can provide the right tool to help clinicians to make better choices about different categories of drugs and their dosage and to manage the economic impact both in hospital-based settings and in National Health Services, throughout electronic health records. Advances in PGx also allow a new approach for pharmaceutical companies in order to improve drug development and clinical trials. As a result, CALs can achieve a powerful source of epidemiological, clinical, and research findings from PGx tests.

KEYWORDS:

• Clinical laboratory analysis
• pharmacogenetics
• therapeutic failure
• adverse drug reactions

Article highlights

• Pharmacogenetics (PGx) is pivotal for stratified medicine and must be a centralized service available for all medical disciplines and hospital wards. In this context, service location at the clinical laboratory analysis may be the best strategic choice.

• The major aim of a PGx service is to help clinicians to avoid drug therapy problems, including therapeutic failures and adverse drug reactions in patient management is the current years.

• In our model, pharmacy/pharmacology hospital services as part of Electronic Health Records may have a major role in therapeutic drug monitoring.

• Joining of pharmacological and molecular biology data may result in clinical decision-making of drug switch or drug dosage adjustments.

Data management may well interface with basic research, clinical research, and pharmaceutical companies to design clinical trials and develop new drugs.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This work was fully supported by “Ministero della Salute”, I.R.C.C.S. Research Program, Ricerca Corrente 2018-2020, Linea n. 2 “Meccanismi patogenetici, predizione e terapia delle malattie complesse”, n. 2755467 “Genetic approach in the management and prevention of frailty in the elderly” (Available from http://areapubblica.cbim.it/areapubblica/areaprogetti), and by the ‘5 x 1000’ voluntary contribution to the Fondazione I.R.C.C.S. ‘Casa Sollievo della Sofferenza’.