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Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing

Overview of attention for article published in American Journal of Medical Genetics. Part A, January 2016
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (85th percentile)
  • High Attention Score compared to outputs of the same age and source (81st percentile)

Mentioned by

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1 news outlet
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2 X users

Citations

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20 Dimensions

Readers on

mendeley
48 Mendeley
Title
Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing
Published in
American Journal of Medical Genetics. Part A, January 2016
DOI 10.1002/ajmg.a.37477
Pubmed ID
Authors

Michael C Leo, Carmit McMullen, Benjamin S Wilfond, Frances L Lynch, Jacob A Reiss, Marian J Gilmore, Patricia Himes, Tia L Kauffman, James V Davis, Gail P Jarvik, Jonathan S Berg, Cary Harding, Kathleen A Kennedy, Dana Kostiner Simpson, Denise I Quigley, C Sue Richards, Alan F Rope, Katrina A B Goddard

Abstract

Advances in genome sequencing and gene discovery have created opportunities to efficiently assess more genetic conditions than ever before. Given the large number of conditions that can be screened, the implementation of expanded carrier screening using genome sequencing will require practical methods of simplifying decisions about the conditions for which patients want to be screened. One method to simplify decision making is to generate a taxonomy based on expert judgment. However, expert perceptions of condition attributes used to classify these conditions may differ from those used by patients. To understand whether expert and patient perceptions differ, we asked women who had received preconception genetic carrier screening in the last 3 years to fill out a survey to rate the attributes (predictability, controllability, visibility, and severity) of several autosomal recessive or X-linked genetic conditions. These conditions were classified into one of five taxonomy categories developed by subject experts (significantly shortened lifespan, serious medical problems, mild medical problems, unpredictable medical outcomes, and adult-onset conditions). A total of 193 women provided 739 usable ratings across 20 conditions. The mean ratings and correlations demonstrated that participants made distinctions across both attributes and categories. Aggregated mean attribute ratings across categories demonstrated logical consistency between the key features of each attribute and category, although participants perceived little difference between the mild and serious categories. This study provides empirical evidence for the validity of our proposed taxonomy, which will simplify patient decisions for results they would like to receive from preconception carrier screening via genome sequencing. © 2016 Wiley Periodicals, Inc.

X Demographics

X Demographics

The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 48 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 2%
Unknown 47 98%

Demographic breakdown

Readers by professional status Count As %
Researcher 8 17%
Student > Ph. D. Student 6 13%
Student > Bachelor 3 6%
Student > Master 3 6%
Other 3 6%
Other 9 19%
Unknown 16 33%
Readers by discipline Count As %
Medicine and Dentistry 13 27%
Biochemistry, Genetics and Molecular Biology 6 13%
Social Sciences 6 13%
Nursing and Health Professions 4 8%
Neuroscience 1 2%
Other 0 0%
Unknown 18 38%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 10. 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 18 February 2016.
All research outputs
#3,418,699
of 25,394,764 outputs
Outputs from American Journal of Medical Genetics. Part A
#254
of 4,210 outputs
Outputs of similar age
#56,543
of 403,457 outputs
Outputs of similar age from American Journal of Medical Genetics. Part A
#12
of 91 outputs
Altmetric has tracked 25,394,764 research outputs across all sources so far. Compared to these this one has done well and is in the 86th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 4,210 research outputs from this source. They receive a mean Attention Score of 4.3. This one has done particularly well, scoring higher than 93% 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 403,457 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 85% of its contemporaries.
We're also able to compare this research output to 91 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 81% of its contemporaries.