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Responsible implementation of expanded carrier screening

Overview of attention for article published in European Journal of Human Genetics, March 2016
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (93rd percentile)
  • High Attention Score compared to outputs of the same age and source (97th percentile)

Mentioned by

blogs
1 blog
policy
3 policy sources
twitter
15 tweeters
facebook
1 Facebook page
wikipedia
1 Wikipedia page

Citations

dimensions_citation
150 Dimensions

Readers on

mendeley
203 Mendeley
Title
Responsible implementation of expanded carrier screening
Published in
European Journal of Human Genetics, March 2016
DOI 10.1038/ejhg.2015.271
Pubmed ID
Authors

Lidewij Henneman, Pascal Borry, Davit Chokoshvili, Martina C Cornel, Carla G van El, Francesca Forzano, Alison Hall, Heidi C Howard, Sandra Janssens, Hülya Kayserili, Phillis Lakeman, Anneke Lucassen, Sylvia A Metcalfe, Lovro Vidmar, Guido de Wert, Wybo J Dondorp, Borut Peterlin

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 disorders, facilitated by new genetic testing technologies, and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child in order to facilitate informed reproductive decision making. In previous decades, carrier screening was typically performed for one or few relatively common recessive disorders associated with significant morbidity, reduced life-expectancy and often because of a considerable higher carrier frequency in a specific population for certain diseases. New genetic testing technologies enable the expansion of screening to multiple conditions, genes or sequence variants. Expanded carrier screening panels that have been introduced to date have been advertised and offered to health care professionals and the public on a commercial basis. This document discusses the challenges that expanded carrier screening might pose in the context of the lessons learnt from decades of population-based carrier screening and in the context of existing screening criteria. It aims to contribute to the public and professional discussion and to arrive at better clinical and laboratory practice guidelines.European Journal of Human Genetics advance online publication, 16 March 2016; doi:10.1038/ejhg.2015.271.

Twitter Demographics

The data shown below were collected from the profiles of 15 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 203 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 <1%
Unknown 202 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 42 21%
Researcher 29 14%
Other 22 11%
Student > Bachelor 21 10%
Student > Ph. D. Student 21 10%
Other 36 18%
Unknown 32 16%
Readers by discipline Count As %
Medicine and Dentistry 52 26%
Biochemistry, Genetics and Molecular Biology 51 25%
Agricultural and Biological Sciences 28 14%
Social Sciences 8 4%
Nursing and Health Professions 5 2%
Other 20 10%
Unknown 39 19%

Attention Score in Context

This research output has an Altmetric Attention Score of 29. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 10 October 2019.
All research outputs
#839,541
of 17,359,532 outputs
Outputs from European Journal of Human Genetics
#124
of 2,966 outputs
Outputs of similar age
#21,705
of 314,953 outputs
Outputs of similar age from European Journal of Human Genetics
#4
of 102 outputs
Altmetric has tracked 17,359,532 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 95th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,966 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.5. This one has done particularly well, scoring higher than 95% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 314,953 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 93% of its contemporaries.
We're also able to compare this research output to 102 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 97% of its contemporaries.