Development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in Australia

Introduction Genomic testing is a relatively new, disruptive and complex health technology with multiple clinical applications in rare diseases, cancer and infection control. Genomic testing is increasingly being implemented into clinical practice, following regulatory approval, funding and adoption...

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Main Authors: Kim Dalziel, Zornitza Stark, Ilias Goranitis, Dylan A Mordaunt, Francisco Santos Gonzalez
Format: Article
Language:English
Published: BMJ Publishing Group 2023-11-01
Series:BMJ Open
Online Access:https://bmjopen.bmj.com/content/13/11/e069441.full
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author Kim Dalziel
Zornitza Stark
Ilias Goranitis
Dylan A Mordaunt
Francisco Santos Gonzalez
author_facet Kim Dalziel
Zornitza Stark
Ilias Goranitis
Dylan A Mordaunt
Francisco Santos Gonzalez
author_sort Kim Dalziel
collection DOAJ
description Introduction Genomic testing is a relatively new, disruptive and complex health technology with multiple clinical applications in rare diseases, cancer and infection control. Genomic testing is increasingly being implemented into clinical practice, following regulatory approval, funding and adoption in models of care, particularly in the area of rare disease diagnosis. A significant barrier to the adoption and implementation of genomic testing is funding. What remains unclear is what the cost of genomic testing is, what the underlying drivers of cost are and whether policy differences contribute to cost variance in different jurisdictions, such as the requirement to have staff with a medical license involved in testing. This costing study will be useful in future economic evaluations and health technology assessments to inform optimal levels of reimbursement and to support comprehensive and comparable assessment of healthcare resource utilisation in the delivery of genomic testing globally.Methods A framework is presented that focuses on uncovering the process of genomic testing for any given laboratory, evaluating its utilisation and unit costs, and modelling the cost drivers and overall expenses associated with delivering genomic testing. The goal is to aid in refining and implementing policies regarding both the regulation and funding of genomic testing. A process-focused (activity-based) methodology is outlined, which encompasses resources, assesses individual cost components through a combination of bottom-up and top-down microcosting techniques and allows disaggregation of resource type and process step.Ethics and dissemination The outputs of the study will be reported at relevant regional genetics and health economics conferences, as well as submitted to a peer-reviewed journal focusing on genomics. Human research ethics committee approval is not required for this microcosting study. This study does not involve research on human subjects, and all data used in the analysis are either publicly available.
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spelling doaj.art-930abc09f62042e6b6460bbb59f1ec502023-12-02T08:00:06ZengBMJ Publishing GroupBMJ Open2044-60552023-11-01131110.1136/bmjopen-2022-069441Development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in AustraliaKim Dalziel0Zornitza Stark1Ilias Goranitis2Dylan A Mordaunt3Francisco Santos Gonzalez4Health Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, AustraliaMurdoch Children’s Research Institute, Melbourne, Victoria, AustraliaHealth Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, AustraliaHealth Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, AustraliaHealth Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, AustraliaIntroduction Genomic testing is a relatively new, disruptive and complex health technology with multiple clinical applications in rare diseases, cancer and infection control. Genomic testing is increasingly being implemented into clinical practice, following regulatory approval, funding and adoption in models of care, particularly in the area of rare disease diagnosis. A significant barrier to the adoption and implementation of genomic testing is funding. What remains unclear is what the cost of genomic testing is, what the underlying drivers of cost are and whether policy differences contribute to cost variance in different jurisdictions, such as the requirement to have staff with a medical license involved in testing. This costing study will be useful in future economic evaluations and health technology assessments to inform optimal levels of reimbursement and to support comprehensive and comparable assessment of healthcare resource utilisation in the delivery of genomic testing globally.Methods A framework is presented that focuses on uncovering the process of genomic testing for any given laboratory, evaluating its utilisation and unit costs, and modelling the cost drivers and overall expenses associated with delivering genomic testing. The goal is to aid in refining and implementing policies regarding both the regulation and funding of genomic testing. A process-focused (activity-based) methodology is outlined, which encompasses resources, assesses individual cost components through a combination of bottom-up and top-down microcosting techniques and allows disaggregation of resource type and process step.Ethics and dissemination The outputs of the study will be reported at relevant regional genetics and health economics conferences, as well as submitted to a peer-reviewed journal focusing on genomics. Human research ethics committee approval is not required for this microcosting study. This study does not involve research on human subjects, and all data used in the analysis are either publicly available.https://bmjopen.bmj.com/content/13/11/e069441.full
spellingShingle Kim Dalziel
Zornitza Stark
Ilias Goranitis
Dylan A Mordaunt
Francisco Santos Gonzalez
Development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in Australia
BMJ Open
title Development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in Australia
title_full Development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in Australia
title_fullStr Development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in Australia
title_full_unstemmed Development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in Australia
title_short Development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in Australia
title_sort development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in australia
url https://bmjopen.bmj.com/content/13/11/e069441.full
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