2016
DOI: 10.1038/ejhg.2015.271
|View full text |Cite|
|
Sign up to set email alerts
|

Abstract: This document of the European Society of Human Genetics contains recommendations regarding responsible implementation of expanded carrier screening. Carrier screening is defined here as the detection of carrier status of recessive diseases in couples or persons who do not have an a priori increased risk of being a carrier based on their or their partners' personal or family history. Expanded carrier screening offers carrier screening for multiple autosomal and X-linked recessive disorder… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
4
1

Citation Types

6
363
0
6

Year Published

2016
2016
2020
2020

Publication Types

Select...
4
4
1

Relationship

0
9

Authors

Journals

citations
Cited by 244 publications
(375 citation statements)
references
References 115 publications
6
363
0
6
Order By: Relevance
“…4 One common caution regarding ECS is the overwhelming amount of information needed to counsel on each condition on the panel. 3 Based on the clear differential in reproductive decisions between profound/severe and moderate conditions presented here, providers and .…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…4 One common caution regarding ECS is the overwhelming amount of information needed to counsel on each condition on the panel. 3 Based on the clear differential in reproductive decisions between profound/severe and moderate conditions presented here, providers and .…”
Section: Discussionmentioning
confidence: 99%
“…3 Despite widespread adoption of ECS by many providers, statements from professional organizations suggest additional research is needed. 3,4 In particular, they cite the lack of data regarding reproductive outcomes of couples that undergo` ECS. Studies of outcomes after population-based carrier screening initiatives for a limited number of disorders have consistently found a reduced incidence of the disease of interest due to the decisions made by the at-risk couples (ARC).…”
Section: Introductionmentioning
confidence: 99%
“…Preconception carrier screening (PCS) aims, according to the European Society of Human Genetics Public and Professional Policy Committee, ’to facilitate informed reproductive decision making by identifying those couples at risk of having an affected child with an (autosomal or X linked) recessive disorder’ 6. PCS programmes have historically been for severe recessive diseases in high-risk populations, such as Tay-Sachs disease (TSD (OMIM #272800)) in the Ashkenazi-Jewish community,7 or thalassaemia in Mediterranean countries 8.…”
Section: Introductionmentioning
confidence: 99%
“…These resources include information to consider regarding informed consent, given the increased availability of expanded carrier screening in the clinical setting (Edwards et al 2015; Grody et al 2013). It has been recommended that expanded carrier screening processes continue to uphold patient choice (Henneman et al 2016). …”
Section: Introductionmentioning
confidence: 99%