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Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?

Overview of attention for article published in Genome Medicine, December 2014
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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 (94th percentile)
  • High Attention Score compared to outputs of the same age and source (88th percentile)

Mentioned by

blogs
2 blogs
twitter
22 tweeters
reddit
1 Redditor

Citations

dimensions_citation
69 Dimensions

Readers on

mendeley
134 Mendeley
citeulike
1 CiteULike
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Title
Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?
Published in
Genome Medicine, December 2014
DOI 10.1186/s13073-014-0121-3
Pubmed ID
Authors

Jae Yeon Cheon, Jessica Mozersky, Robert Cook-Deegan

Abstract

After two decades of genetic testing and research, the BRCA1 and BRCA2 genes are two of the most well-characterized genes in the human genome. As a result, variants of uncertain significance (VUS; also called variants of unknown significance) are reported less frequently than for genes that have been less thoroughly studied. However, VUS continue to be uncovered, even for BRCA1/2. The increasing use of multi-gene panels and whole-genome and whole-exome sequencing will lead to higher rates of VUS detection because more genes are being tested, and most genomic loci have been far less intensively characterized than BRCA1/2. In this article, we draw attention to ethical and policy-related issues that will emerge. Experience garnered from BRCA1/2 testing is a useful introduction to the challenges of detecting VUS in other genetic testing contexts, while features unique to BRCA1/2 suggest key differences between the BRCA experience and the current challenges of multi-gene panels in clinical care. We propose lines of research and policy development, emphasizing the importance of pooling data into a centralized open-access database for the storage of gene variants to improve VUS interpretation. In addition, establishing ethical norms and regulated practices for sharing and curating data, analytical algorithms, interpretive frameworks and patient re-contact are important policy areas.

Twitter Demographics

The data shown below were collected from the profiles of 22 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 134 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 <1%
India 1 <1%
Russia 1 <1%
Brazil 1 <1%
Unknown 130 97%

Demographic breakdown

Readers by professional status Count As %
Student > Master 23 17%
Researcher 21 16%
Other 18 13%
Student > Ph. D. Student 16 12%
Student > Bachelor 15 11%
Other 25 19%
Unknown 16 12%
Readers by discipline Count As %
Agricultural and Biological Sciences 33 25%
Biochemistry, Genetics and Molecular Biology 31 23%
Medicine and Dentistry 24 18%
Computer Science 7 5%
Nursing and Health Professions 3 2%
Other 16 12%
Unknown 20 15%

Attention Score in Context

This research output has an Altmetric Attention Score of 26. 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 13 January 2018.
All research outputs
#1,174,477
of 21,744,520 outputs
Outputs from Genome Medicine
#254
of 1,376 outputs
Outputs of similar age
#18,621
of 346,246 outputs
Outputs of similar age from Genome Medicine
#7
of 51 outputs
Altmetric has tracked 21,744,520 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 94th percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,376 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 25.4. This one has done well, scoring higher than 81% 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 346,246 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 94% of its contemporaries.
We're also able to compare this research output to 51 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 88% of its contemporaries.