Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives.

ABSTRACT:

Background

Carrier screening for autosomal recessive disorders aims to facilitate reproductive decision-making by identifying couples with a 1-in-4 risk in every pregnancy of having an affected child. Except for a few countries or regions, carrier screening is not widely offered and is mostly ancestry-based. Technological advances enable carrier screening for multiple diseases simultaneously allowing universal screening regardless of ancestry (population-based expanded carrier screening). It is important to study how this can be successfully implemented. This study therefore aims to identify critical factors involved in successful implementation, from a user perspective, by learning from already implemented initiatives.

Methods

Factors associated with successful implementati

SUBMITTER: Holtkamp KCA 

PROVIDER: S-EPMC5421354 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature