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Points to consider for laboratories reporting results from diagnostic genomic sequencing

Overview of attention for article published in European Journal of Human Genetics, November 2017
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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)
  • Good Attention Score compared to outputs of the same age and source (79th percentile)

Mentioned by

twitter
16 tweeters
facebook
1 Facebook page

Citations

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24 Dimensions

Readers on

mendeley
50 Mendeley
Title
Points to consider for laboratories reporting results from diagnostic genomic sequencing
Published in
European Journal of Human Genetics, November 2017
DOI 10.1038/s41431-017-0043-9
Pubmed ID
Authors

D. F. Vears, K. Sénécal, A. J. Clarke, L. Jackson, A. M. Laberge, L. Lovrecic, A. Piton, K. L. I. Van Gassen, H. G. Yntema, B. M. Knoppers, P. Borry

Abstract

Although NGS technologies are well-embedded in the clinical setting for identification of genetic causes of disease, guidelines issued by professional bodies are inconsistent regarding some aspects of reporting results. Most recommendations do not give detailed guidance about whether variants of uncertain significance (VUS) should be reported by laboratory personnel to clinicians, and give conflicting messages regarding whether unsolicited findings (UF) should be reported. There are also differences both in their recommendations regarding whether actively searching for secondary findings (SF) is appropriate, and in the extent to which they address the duty (or lack thereof) to reanalyse variants when new information arises. An interdisciplinary working group considered the current guidelines, their own experiences, and data from a recent qualitative study to develop a set of points to consider for laboratories reporting results from diagnostic NGS. These points to consider fall under six categories: (i) Testing approaches and technologies used, (ii) Approaches for VUS; (iii) Approaches for reporting UF, (iv) Approaches regarding SF; (v) Reanalysis of data & re-contact; and vi) Minors. While it is unclear whether uniformity in reporting across all laboratories is desirable, we hope these points to consider will be useful to diagnostic laboratories as they develop their processes for making decisions about reporting VUS and UF from NGS in the diagnostic context.

Twitter Demographics

The data shown below were collected from the profiles of 16 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 50 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 50 100%

Demographic breakdown

Readers by professional status Count As %
Other 9 18%
Researcher 9 18%
Student > Master 7 14%
Student > Ph. D. Student 5 10%
Student > Bachelor 4 8%
Other 9 18%
Unknown 7 14%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 14 28%
Medicine and Dentistry 13 26%
Agricultural and Biological Sciences 5 10%
Nursing and Health Professions 2 4%
Social Sciences 2 4%
Other 3 6%
Unknown 11 22%

Attention Score in Context

This research output has an Altmetric Attention Score of 12. 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 29 January 2018.
All research outputs
#1,502,996
of 14,442,381 outputs
Outputs from European Journal of Human Genetics
#425
of 2,646 outputs
Outputs of similar age
#59,128
of 402,433 outputs
Outputs of similar age from European Journal of Human Genetics
#9
of 43 outputs
Altmetric has tracked 14,442,381 research outputs across all sources so far. Compared to these this one has done well and is in the 89th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,646 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.1. This one has done well, scoring higher than 83% 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 402,433 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 43 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 79% of its contemporaries.