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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

Overview of attention for article published in Genetics in Medicine, November 2016
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • One of the highest-scoring outputs from this source (#10 of 2,328)
  • High Attention Score compared to outputs of the same age (99th percentile)
  • High Attention Score compared to outputs of the same age and source (99th percentile)

Citations

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923 Dimensions

Readers on

mendeley
867 Mendeley
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3 CiteULike
Title
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
Published in
Genetics in Medicine, November 2016
DOI 10.1038/gim.2016.190
Pubmed ID
Authors

Sarah S. Kalia, Kathy Adelman, Sherri J. Bale, Wendy K. Chung, Christine Eng, James P. Evans, Gail E. Herman, Sophia B. Hufnagel, Teri E. Klein, Bruce R. Korf, Kent D. McKelvey, Kelly E. Ormond, C. Sue Richards, Christopher N. Vlangos, Michael Watson, Christa L. Martin, David T. Miller

Abstract

Disclaimer: These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical services. Adherence to these recommendations is completely voluntary and does not necessarily assure a successful medical outcome. These recommendations should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed toward obtaining the same results. In determining the propriety of any specific procedure or test, the clinician should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. Clinicians are encouraged to document the reasons for the use of a particular procedure or test, whether or not it is in conformance with this statement. Clinicians also are advised to take notice of the date this statement was adopted and to consider other medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.To promote standardized reporting of actionable information from clinical genomic sequencing, in 2013, the American College of Medical Genetics and Genomics (ACMG) published a minimum list of genes to be reported as incidental or secondary findings. The goal was to identify and manage risks for selected highly penetrant genetic disorders through established interventions aimed at preventing or significantly reducing morbidity and mortality. The ACMG subsequently established the Secondary Findings Maintenance Working Group to develop a process for curating and updating the list over time. We describe here the new process for accepting and evaluating nominations for updates to the secondary findings list. We also report outcomes from six nominations received in the initial 15 months after the process was implemented. Applying the new process while upholding the core principles of the original policy statement resulted in the addition of four genes and removal of one gene; one gene did not meet criteria for inclusion. The updated secondary findings minimum list includes 59 medically actionable genes recommended for return in clinical genomic sequencing. We discuss future areas of focus, encourage continued input from the medical community, and call for research on the impact of returning genomic secondary findings.Genet Med advance online publication 17 November 2016Genetics in Medicine (2016); doi:10.1038/gim.2016.190.

Twitter Demographics

The data shown below were collected from the profiles of 185 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 867 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 3 <1%
Korea, Republic of 1 <1%
Argentina 1 <1%
Canada 1 <1%
Unknown 861 99%

Demographic breakdown

Readers by professional status Count As %
Researcher 186 21%
Other 108 12%
Student > Ph. D. Student 105 12%
Student > Master 102 12%
Student > Bachelor 71 8%
Other 156 18%
Unknown 139 16%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 270 31%
Medicine and Dentistry 204 24%
Agricultural and Biological Sciences 116 13%
Computer Science 15 2%
Neuroscience 14 2%
Other 69 8%
Unknown 179 21%

Attention Score in Context

This research output has an Altmetric Attention Score of 302. 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 15 May 2020.
All research outputs
#60,492
of 17,364,317 outputs
Outputs from Genetics in Medicine
#10
of 2,328 outputs
Outputs of similar age
#2,434
of 391,415 outputs
Outputs of similar age from Genetics in Medicine
#1
of 65 outputs
Altmetric has tracked 17,364,317 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 99th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,328 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 17.7. This one has done particularly well, scoring higher than 99% 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 391,415 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 99% of its contemporaries.
We're also able to compare this research output to 65 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 99% of its contemporaries.