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

Expert Rev Pharmacoecon Outcomes Res. 2022 Mar;22(2):197-206. doi: 10.1080/14737167.2022.1993063. Epub 2021 Oct 26.


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.

Publication types

  • Systematic Review

MeSH terms

  • Child
  • Cost-Benefit Analysis*
  • Humans
  • Prospective Studies