Economic evaluation of population-based, expanded reproductive carrier screening for genetic diseases in Australia

Deborah Schofield; Evelyn Lee; Jayamala Parmar; Simon Kelly; Matthew Hobbs; Nigel Laing; Jan Mumford; Rupendra Shrestha

doi:10.1016/j.gim.2023.100813

Economic evaluation of population-based, expanded reproductive carrier screening for genetic diseases in Australia

Genet Med. 2023 May;25(5):100813. doi: 10.1016/j.gim.2023.100813. Epub 2023 Feb 12.

Authors

Deborah Schofield¹, Evelyn Lee², Jayamala Parmar¹, Simon Kelly³, Matthew Hobbs⁴, Nigel Laing⁵, Jan Mumford⁶, Rupendra Shrestha¹

Affiliations

¹ Centre for Economic Impacts of Genomic Medicine, Macquarie University, Sydney, New South Wales, Australia.
² Centre for Economic Impacts of Genomic Medicine, Macquarie University, Sydney, New South Wales, Australia. Electronic address: evelyn.lee@mq.edu.au.
³ National Centre for Social and Economic Modelling (NATSEM), University of Canberra, Canberra, Australian Capital Territory, Australia.
⁴ Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
⁵ Centre for Medical Research, The University of Western Australia, Perth, Western Australia, Australia.
⁶ Genetic Alliance Australia, Sydney, New South Wales, Australia.

PMID: 36789890
DOI: 10.1016/j.gim.2023.100813

Abstract

Purpose: This study aimed to evaluate the cost effectiveness of population-based, expanded reproductive carrier screening (RCS) for a 300 recessive gene panel from health service and societal perspectives.

Methods: A microsimulation model (PreConMod) was developed using 2016 Australian Census data as the base population. Epidemiologic, health, and indirect cost data were based on literature review. The study assessed the incremental cost effectiveness ratio of expanded RCS compared with (1) no population screening and (2) 3-condition screening for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome in a single birth cohort. Averted affected births and health service savings with expanded RCS were projected to year 2061. Both one-way and probability sensitivity analyses were conducted to assess the uncertainty of the parameter inputs.

Results: Expanded RCS was cost saving compared with no population screening and cost effective compared with the 3-condition screening (incremental cost effectiveness ratio of Australian dollar [AUD] 6287 per quality-adjusted life year gained) at an uptake rate of 50% for RCS, 59% for in vitro fertilization and preimplantation genetic testing, 90% for prenatal diagnosis testing, and 50% for elective termination of affected pregnancies and a cost of AUD595 per couple screened. Our model predicts that expanded RCS would avert one-third of affected births in a single birth cohort and reduce lifetime health service spending by AUD632.0 million. Expanded RCS was estimated to be cost saving from the societal perspective.

Conclusion: Expanded RCS is cost effective from health service and societal perspectives. Expanded RCS is projected to avert significantly more affected births and result in health service saving beyond those expected from 3-condition screening or no population screening.

Keywords: Averted; Carrier screening; Cost effectiveness analysis; Microsimulation; Quality-adjusted life-years.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Australia / epidemiology
Cost-Benefit Analysis
Female
Genetic Carrier Screening
Genetic Testing*
Humans
Pregnancy
Prenatal Diagnosis*
Quality-Adjusted Life Years
Reproduction