TY - JOUR
T1 - Economic evaluation of population-based, expanded reproductive carrier screening for genetic diseases in Australia
AU - Schofield, Deborah
AU - Lee, Evelyn
AU - Parmar, Jayamala
AU - Kelly, Simon
AU - Hobbs, Matthew
AU - Laing, Nigel
AU - Mumford, Jan
AU - Shrestha, Rupendra
N1 - Funding Information:
This study was supported by a National Health and Medical Research Council (NHMRC) Partnership Project Grant (APP1146134).
Publisher Copyright:
© 2023 The Authors
PY - 2023/2/12
Y1 - 2023/2/12
N2 - 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.
AB - 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.
KW - Averted
KW - Carrier screening
KW - Cost effectiveness analysis
KW - Microsimulation
KW - Quality-adjusted life-years
UR - http://www.scopus.com/inward/record.url?scp=85151858031&partnerID=8YFLogxK
U2 - 10.1016/j.gim.2023.100813
DO - 10.1016/j.gim.2023.100813
M3 - Article
C2 - 36789890
AN - SCOPUS:85151858031
SN - 1098-3600
VL - 25
SP - 1
EP - 14
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 5
M1 - 100813
ER -