The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy.

Hunter H Giles, Madhuri R Hegde, Elaine Lyon, Christine M Stanley, Iain D Kerr, Megan E Garlapow, Julie M Eggington

August 2021 Annu Rev Genomics Hum Genet

Synopsis of Social media discussions

Overall, the discussions demonstrate strong enthusiasm and perceived importance of the publication, with references to it as a 'must-read' and praises for expert contributions, indicating a belief in its value to the field. The tone emphasizes progress and the need for standardized practices, but the engagement remains surface-level rather than deeply critical or innovative.

A
Agreement
 Moderate agreement

Most discussions acknowledge the importance of the article in advancing understanding within genetic variant classification, with some explicitly supporting the review's insights as crucial for the field.

I
Interest
 High level of interest

The posts show high interest, often referencing the article as a 'must-read' and highlighting its relevance for ongoing advancements and standards.

E
Engagement
 Moderate level of engagement

While many posts promote the article and mention expert contributions, their engagement remains generally introductory, without deep analysis or critical perspectives.

I
Impact
 Moderate level of impact

The discussions suggest moderate perceived influence, as the article is presented as a significant update or summary of the field, though mainly as a resource rather than a catalyst for immediate change.

Social Mentions

YouTube

12 Videos

Twitter

14 Posts

News

3 Articles

Metrics

Video Views

492

Total Likes

23

Extended Reach

11,417

Social Features

29

Timeline: Posts about article

Top Social Media Posts

Posts referencing the article

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The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy. This video explores how variant classification improves DNA sequencing accuracy, influencing personalized medicine, and discusses current systems, limitations, biases, and standards in the field.

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Clinical Genetic Variant Classification and Its Role in Test Accuracy

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Section 6.2 - The Science and Art of Clinical Genetic Variant Classification

Section 6.2 - The Science and Art of Clinical Genetic Variant Classification

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Section 7.2 - The Science and Art of Clinical Genetic Variant Classification

Section 7.2 - The Science and Art of Clinical Genetic Variant Classification

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8 views

  • Seiichi Mori
    @seiichi_mori (Twitter)

    The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy https://t.co/hzM7A9nKTo https://t.co/OodFPlA9db
    view full post

    October 3, 2022

  • Jen Tarpinian
    @jeneticsjen (Twitter)

    RT @variantyx: Genetic variant classification is an evolving field, but breakthroughs and lessons have yielded progress. Read about variant…
    view full post

    October 8, 2021

    4

  • Dr Fatima Marhoon
    @dr_fmarhoon (Twitter)

    RT @variantyx: Genetic variant classification is an evolving field, but breakthroughs and lessons have yielded progress. Read about variant…
    view full post

    October 8, 2021

    4

  • Variantyx Inc.
    @variantyx (Twitter)

    Genetic variant classification is an evolving field, but breakthroughs and lessons have yielded progress. Read about variant classification standards & guidelines from various domain experts, including our Lab Director, Christine M Stanley, PhD, FACMG. https://t.co/6GVnid3ZjR https://t.co/14tYvsvt4I
    view full post

    October 8, 2021

    8

    4

  • Sara Osman
    @SARAWHUFAN (Twitter)

    Our very own Dr. Madhuri Hegde joins experts from across the field to address the unique challenges our industry faces in genetic variant classification. Read now in the Annual Review of Genomics and Human Genetics: https://t.co/sOvi7qi1b9 #TeamPKI https://t.co/1pLaVhXn0p
    view full post

    October 6, 2021

    1

  • PerkinElmer Genomics
    @PKIGenomics (Twitter)

    Our very own Dr. Madhuri Hegde joins experts from across the field to address the unique challenges our industry faces in genetic variant classification. Read now in the Annual Review of Genomics and Human Genetics: https://t.co/axYcSU9rTe https://t.co/QE8yvHs9pl
    view full post

    October 6, 2021

    5

  • enlightenbio
    @enlightenbio (Twitter)

    An opinion piece on the current state of #variantclassification with most widely used standards and guideline applied - various domain experts. @ClarifyGenetics @hudsonalpha, @C2iGenomics, @variantyx, & @PKIGenomics https://t.co/LQ6cVirHwE
    view full post

    September 28, 2021

  • Robert C. Green
    @RobertCGreen (Twitter)

    RT @ClarifyGenetics: This is a must-read review outlining the current strengths and weaknesses of modern clinical genetic/genomic testing.…
    view full post

    September 18, 2021

    1

  • Pat Adams
    @PathologyPat (Twitter)

    Variant classification- Germline and somatic - Standards and levels of evidence https://t.co/0RXGY3dWPG
    view full post

    September 17, 2021

    1

  • Center for Genomic Interpretation
    @ClarifyGenetics (Twitter)

    This is a must-read review outlining the current strengths and weaknesses of modern clinical genetic/genomic testing. Read it here, https://t.co/4ljM0DzJna, or you can have the first author read it to you on YouTube by following this link: https://t.co/wAzcPYDRgx
    view full post

    September 16, 2021

    4

    1

  • Center for Genomic Interpretation
    @ClarifyGenetics (Twitter)

    We published a paper! Read it here https://t.co/4ljM0DzJna OR watch the first author, Hunter Giles, read it to you, here https://t.co/VGF2gmeb1x. Yes, our boss really had him video himself reading the paper! #gcchat #clinicalgenetics #clinicalgenomics https://t.co/OeQucqCqkD
    view full post

    September 15, 2021

    2

  • Janet Piñero
    @Janis3_14159 (Twitter)

    The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy https://t.co/c4mpfKuSeY
    view full post

    September 1, 2021

  • The Rising Tide Podcast
    @TheRisingTideP1 (Twitter)

    RT @MeganMegaPow: Our article on #clinical #genetics & #genomics, #technical #accuracy is out in preprint. Though a review, we also have so…
    view full post

    May 3, 2021

    1

  • Megan Garlapow, PhD
    @MeganMegaPow (Twitter)

    Our article on #clinical #genetics & #genomics, #technical #accuracy is out in preprint. Though a review, we also have some really exciting, novel work on #positivepredictivevalue. https://t.co/m3KNLEF308
    view full post

    May 1, 2021

    1

    1

Abstract Synopsis

  • The article discusses the importance of clinical genetic variant classification in improving the accuracy of DNA sequencing tests, which is crucial for advancing personalized medicine in both hereditary and cancer-related genetics.
  • It reviews current classification systems, highlighting their limitations, potential biases towards positive results, and the impact of factors like panel size and population screening on test accuracy.
  • Experts' opinions and standards are included to assess the current state of the field and to suggest areas for improvement in variant classification practices.]