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. 2016 Jan 29;4(3):292-302.
doi: 10.1002/mgg3.204. eCollection 2016 May.

Carrier screening by next-generation sequencing: health benefits and cost effectiveness

Mohammad Azimi  1 , Kyle Schmaus  1 , Valerie Greger  2 , Dana Neitzel  2 , Robert Rochelle  2 , Tuan Dinh  1
Affiliations

Carrier screening by next-generation sequencing: health benefits and cost effectiveness

Mohammad Azimi et al. Mol Genet Genomic Med. .

Abstract

Background: Compared with conventional genotyping, which typically tests for a limited number of mutations, next-generation DNA sequencing (NGS) provides increased accuracy for carrier screening. The objective of this study was to evaluate the cost effectiveness of carrier screening using NGS versus genotyping for 14 of the recessive disorders for which medical society guidelines recommend screening.

Methods: Data from published literature, population surveys, and expert opinion were used to develop a decision tree model capturing decisions and outcomes related to carrier screening and reproductive health.

Results: Modeling a population of 1,000,000 couples that was representative of the United States population and that contained 83,421 carriers of pathogenic mutations, carrier screening using NGS averted 21 additional affected births as compared with genotyping, and reduced costs by approximately $13 million. As compared with no screening, NGS carrier screening averted 223 additional affected births. The results are sensitive to assumptions regarding mutation detection rates and carrier frequencies in multiethnic populations.

Conclusion: This study demonstrated that NGS-based carrier screening offers the greater benefit in clinical outcomes and lower total healthcare cost as compared with genotyping.

Keywords: Carrier screening; cost effectiveness; genotyping; next‐generation sequencing.

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Figures

Figure 1
Figure 1
Decision tree: (A) preconception branch and (B) prenatal and no screening branches.
Figure 2
Figure 2
Projected composition of carrier status by ethnicity (simulated data), all disorders considered. Note the logarithmic y‐axis which shows orders of magnitude difference between number of couples and carrier couples.
Figure 3
Figure 3
(A) Number of affected births prevented using next‐generation DNA sequencing (NGS) versus genotyping for carrier screening (simulated data). (B) Total life years gained from cases of genetic disorders averted (simulated data). (C) Healthcare costs for different screening scenarios (simulated data).
See this image and copyright information in PMC

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