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

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,

SUBMITTER: Azimi M 

PROVIDER: S-EPMC4867563 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature