Economic evaluation of reproductive carrier screening for recessive genetic conditions: a systematic review

ABSTRACT

Introduction

Autosomal recessive (AR) and x-linked (XL) conditions are rare but collectively common which impact millions of people globally on morbidity, mortality and costs. Advanced medical technologies allow prospective parents to make informed reproductive decisions to avoid having affected children. Economic evaluations targeting on reproductive carrier screening (RCS) for AR and/or XL conditions have been conducted, but there has not been a systematic review in this area.

Areas covered

A systematic search of economic evaluations for RCS was undertaken using the following databases – EMBASE, MEDLINE and SCOPUS. The search strategy was designed to capture full economic evaluations related to RCS since 1990. This review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) strategy. The included 23 studies adopted various types of methodologies to conduct economic evaluations. The majority of studies examined a single condition. The various clinical strategies and screened conditions caused the different cost-effectiveness conclusions in the published studies.

Expert opinion

Establishing a validated and practical clinical strategy of RCS and investigating the cost-effectiveness of multiple conditions in one economic evaluation are critical for implementing RCS in the future. Further economic evaluations are essential to provide evidence-based practice for decision-makers.

KEYWORDS:

• Autosomal recessive
• economic evaluation
• reproductive carrier screening
• systematic review
• x-linked

Article Highlights

• This is the first systematic review which critically assesses the economic evaluations of reproductive carrier screening including multiple genetic conditions. Most included studies were of high quality as per the Consolidated Health Economic Evaluation Reporting Standards (CHEERS) statement.

• Economic evaluations of reproductive carrier screening have been conducted using various analytical approaches and cost-effectiveness thresholds. Although examining single condition accounted for the majority of the published studies, assessing multiple conditions in one economic evaluation raised more concern recently because of the advanced medical technologies. The various clinical strategies and screened conditions caused the different cost-effectiveness conclusions in the published studies.

• The findings in this review provide useful information to assist policy makers when implementing a carrier screening program. This review also provides a comprehensive summary of the existing studies, which can help further research in this area.

Acknowledgments

The authors thank Dr Yu Guo, from University of Southern California, USA, for her contribution to this systematic review. The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission) is funded by the Australian Government’s Medical Research Future Fund as part of the Genomics Health Futures Mission (GHFM), grant GHFM73390 (MRFF-G-MM). The grant is administered by the Murdoch Children’s Research Institute through Australian Genomics.

Declarations of Interests

The authors have no other 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 apart from those disclosed.

Supplementary materials

Supplemental data for this article can be accessed here.

Additional information

Funding

Tianjiao Wang is a PhD candidate and the recipient of Australian Government RTP Stipend and GU International Postgraduate Research Scholarship (2019-2022); Paul Scuffham is partly funded from a NHMRC Senior Research Fellowship – SRFB [#1136923]; Edwin Kirk and Martin Downes are partly funded by the Mackenzie’s Mission project, under grant GHFM73390 (MRFF-G-MM).