Expanded universal carrier screening and its implementation within a publicly funded healthcare service
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REVIEW
Expanded universal carrier screening and its implementation within a publicly funded healthcare service Charlotte A. Rowe 1,2
&
Caroline F Wright 3
Received: 7 June 2019 / Accepted: 28 October 2019 # The Author(s) 2019
Abstract Carrier screening, a well-established clinical initiative, has been slow to take advantage of the new possibilities offered by highthroughput next generation sequencing technologies. There is evidence of significant benefit in expanding carrier screening to include multiple autosomal recessive conditions and offering a ‘universal’ carrier screen that could be used for a pan-ethnic population. However, the challenges of implementing such a programme and the difficulties of demonstrating efficacy worthy of public health investment are significant barriers. In order for such a programme to be successful, it would need to be applicable and acceptable to the population, which may be ethnically and culturally diverse. There are significant practical and ethical implications associated with determining which variants, genes and conditions to include whilst maintaining adequate sensitivity and accuracy. Although preconception screening would maximise the potential benefits from universal carrier screening, the resource implications of different modes of delivery need to be carefully evaluated and balanced against maximising reproductive autonomy and ensuring equity of access. Currently, although a number of existing initiatives are increasing access to carrier screening, there is insufficient evidence to inform the development of a publicly funded, expanded, universal carrier screening programme that would justify investment over other healthcare interventions. Keywords Carrier screening . Genome sequencing . Universal . Expanded
Introduction Carrier screening for genetic conditions historically involves screening asymptomatic individuals and couples within a high-risk population for heterozygous carriers of specific autosomal recessive (AR) conditions. Carrier screening initiatives began in the 1970s with screening Ashkenazi Jewish populations for Tay-Sachs disease (TSD) (Kaback 2001),
* Charlotte A. Rowe [email protected] * Caroline F Wright [email protected]
enabling carriers to make reproductive decisions based on a quantified risk of having an affected child. Technological advances over the last decade have now made genome-wide sequencing (GWS) affordable, potentially enabling carrier screening to be ‘expanded’ to include more conditions (van der Hout et al. 2016) and 'universal' to be offered beyond highrisk groups (Lazarin and Haque 2016). The integration of such a programme into a publicly funded healthcare service, such as the National Health Service (NHS) in the UK, would facilitate widespread access to potential benefits of the genomic era. The aim of this review is to evaluate the existing evidence for expanded universal carrier screening (EUCS) (van der Hout et al. 2016) programmes, and to appraise the potential benefits and challenges of implementin
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