Retrospective Study
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Med Genet. Dec 20, 2023; 11(4): 39-50
Published online Dec 20, 2023. doi: 10.5496/wjmg.v11.i4.39
Clinical utilities and end-user experience of pharmacogenomics: 39 mo of clinical implementation experience in an Australian hospital setting
Rosalind Moxham, Andrew Tjokrowidjaja, Sophie Devery, Renee Smyth, Alison McLean, Darren M Roberts, Kathy H C Wu
Rosalind Moxham, Sophie Devery, Renee Smyth, Alison McLean, Kathy H C Wu, Clinical Genomics, St Vincent's Hospital, NSW, Sydney 2010, Australia
Rosalind Moxham, Andrew Tjokrowidjaja, Alison McLean, Darren M Roberts, Kathy H C Wu, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, NSW, Sydney 2031, Australia
Darren M Roberts, Clinical Pharmacology, Drug Health Services, Royal Prince Alfred Hospital, NSW, Sydney 2050, Australia
Kathy H C Wu, School of Medicine, University of Notre Dame Australia, NSW, Sydney 2010, Australia
Kathy H C Wu, Discipline of Genetic Medicine, University of Sydney, NSW, Sydney 2006, Australia
Author contributions: Moxham R and Tjokrowidjaja A recruited patients, collected and analysed data; Tjokrowidjaja A drafted the original research report and Moxham R drafted and prepared the manuscript for publication; Devery S, Smyth R and McLean A recruited patients, collected and analysed data; Roberts DM advised on clinician recruitment and data analysis; Wu KHC as the coordinating principal investigator was responsible for the study design and overall project supervision, manuscript editing and review; all authors contributed to manuscript revision, read and approved the submitted version.
Supported by Partially funded by St Vincent’s Health Australia Inclusive Health Program; Early Career Research Grant from Avant.
Institutional review board statement: This study was reviewed and approved by the Ethics Committee of St Vincent's Hospital Human Research (approval No. 2019/ETH12892).
Informed consent statement: Participants of this study were invited clinicians and patients whose consent was implied when they completed the electronic surveys sent to their email address. The Patient Information Sheet and the Clinician Information Sheet were imbedded into the online surveys.
Conflict-of-interest statement: We have no financial relationships to disclose.
Data sharing statement: The datasets generated during and/or analysed during the current study are available from the corresponding author on reasonable request.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Kathy HC Wu, Founder, FRACP, MBBS, MMed, Associate Professor, Clinical Genomics, St Vincent's Hospital, Translational Research Centre, No. 97-105 Boundary Street, Darlinghurst, NSW, Sydney 2010, Australia. kathy.wu@svha.org.au
Received: June 28, 2023
Peer-review started: June 28, 2023
First decision: August 31, 2023
Revised: November 6, 2023
Accepted: November 30, 2023
Article in press: November 30, 2023
Published online: December 20, 2023
Processing time: 175 Days and 7.1 Hours
Abstract
BACKGROUND

Pharmacogenomics (PG) testing is under-utilised in Australia. Our research provides Australia-specific data on the perspectives of patients who have had PG testing and those of the clinicians involved in their care, with the aim to inform wider adoption of PG into routine clinical practice.

AIM

To investigate the frequency of actionable drug gene interactions and assess the perceived utility of PG among patients and clinicians.

METHODS

We conducted a retrospective audit of PG undertaken by 100 patients at an Australian public hospital genetics service from 2018 to 2021. Via electronic surveys we compared and contrasted the experience, understanding and usage of results between these patients and their clinicians.

RESULTS

Of 100 patients who had PG, 84% were taking prescription medications, of which 67% were taking medications with actionable drug-gene interactions. Twenty-five out of 81 invited patients and 17 out of 89 invited clinicians completed the surveys. Sixty-eight percent of patients understood their PG results and 48% had medications changed following testing. Paired patient-clinician surveys showed patient-perceived utility and experience was positive, contrasting their clinicians’ hesitancy on PG adoption who identified insufficient education/training, lack of clinical support, test turnaround time and cost as barriers to adoption.

CONCLUSION

Our dichotomous findings between the perspectives of our patient and clinician cohorts suggest the uptake of PG is likely to be driven by patients and clinicians need to be prepared to provide information and guidance to their patients.

Keywords: Pharmacogenomics testing; Clinical adoption; Drug gene interactions; Clinician perspectives; Patient perspectives

Core Tip: Pharmacogenomics (PG)-guided therapy has the potential to reduce adverse drug reactions and improve clinical outcomes of patients with mental illness. Despite increasing evidence, the uptake of PG among Australian clinicians remains low. We report for the first time on the dichotomous responses between patients and their clinician counterparts in the usage of PG: Patients were generally positive and willing to use PG compared with clinicians, suggesting that the uptake of PG in Australia is likely to be driven by patients, and that clinicians need to be prepared to provide information and guidance to their patients.