Evidence map›Paper›PMID 38757444›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2024

Implementing evidence-based assertions of clinical actionability in the context of secondary findings: Updates from the ClinGen Actionability Working Group.

Christine M Pak, Marian J Gilmore, Joanna E Bulkley, Pranesh Chakraborty, Orit Dagan-Rosenfeld, Ann Katherine M Foreman, Michael H Gollob, Charisma L Jenkins, Alexander E Katz, Kristy Lee and 17 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Targeted therapy in patients with genetic tumor syndromes.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025
    Article
  2. Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

27 authors.

Christine M PakDepartment of Translational and Applied Genomics, Kaiser Permanente Center for Health Research, Portland, OR. Electronic address: christine.pak@kpchr.org.
Marian J GilmoreDepartment of Translational and Applied Genomics, Kaiser Permanente Center for Health Research, Portland, OR.
Joanna E BulkleyDepartment of Translational and Applied Genomics, Kaiser Permanente Center for Health Research, Portland, OR.
Pranesh ChakrabortyNewborn Screening Ontario, Children's Hospital of Eastern Ontario, and Division of Metabolics University of Ottawa, Ottawa, ON, Canada.
Orit Dagan-RosenfeldDepartment of Genetics, Stanford University School of Medicine, Stanford, CA.
Ann Katherine M ForemanDepartment of Genetics, University of North Carolina, Chapel Hill, NC.
Michael H GollobDivision of Cardiology, University of Toronto, Toronto, ON, Canada.
Charisma L JenkinsDepartment of Translational and Applied Genomics, Kaiser Permanente Center for Health Research, Portland, OR.
Alexander E KatzDivision of Internal Medicine, University of Michigan, Ann Arbor, MI.
Kristy LeeDepartment of Genetics, University of North Carolina, Chapel Hill, NC.
Naomi MeeksSection of Genetics, Department of Pediatrics, University of Colorado, Aurora, CO.
Julianne M O'DanielDepartment of Genetics, University of North Carolina, Chapel Hill, NC.
Jennifer E PoseyMolecular and Human Genetics Department, Baylor College of Medicine, Houston, TX.
Shannon M RegoInstitute for Human Genetics, University of California, San Francisco, CA.
Neethu ShahMolecular and Human Genetics Department, Baylor College of Medicine, Houston, TX.
Robert D SteinerUniversity of Wisconsin and Marshfield Clinic, Marshfield and Madison, WI.
Andrew B StergachisDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA.
Sai Lakshmi SubramanianMolecular and Human Genetics Department, Baylor College of Medicine, Houston, TX; Roche Diagnostics, Santa Clara, CA.
Tracy TrotterDepartment of Pediatrics, John Muir Health, Walnut Creek, CA.
Kathleen WallaceDepartment of Genetics, University of North Carolina, Chapel Hill, NC.
Marc S WilliamsDepartment of Genomic Health, Geisinger, Danville, PA.
Katrina A B GoddardDepartment of Translational and Applied Genomics, Kaiser Permanente Center for Health Research, Portland, OR.
Adam H BuchananDepartment of Genomic Health, Geisinger, Danville, PA.
Kandamurugu ManickamDepartment of Pediatrics, Nationwide Children's Hospital and The Ohio State University College of Medicine, Columbus, OH.
Bradford PowellDepartment of Genetics, University of North Carolina, Chapel Hill, NC.
Jessica Ezzell HunterGenomics, Ethics, and Translational Research Program, RTI International, Research Triangle Park, NC.
ClinGen Resource

Funding

The Clinical Genome Resource – Advancing genomic medicine through biocuration and expert assessment of genes and variants at scaleU24HG009650 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI JONATHAN S BERG, Jessica Ezzell Hunter · 2021 to 2026
$30.0M
ClinGen AI Data Delivery SupplementU24HG006834 · NHGRI · BROAD INSTITUTE, INC. · PI Marina DiStefano, CHRISTA LESE MARTIN · 2021 to 2026
$26.7M
NHGRI NIH HHS U24 HG006834NHGRI NIH HHS U24 HG009650
6 · The paper itself

Abstract

purposeThe ClinGen Actionability Working Group (AWG) developed an evidence-based framework to generate actionability reports and scores of gene-condition pairs in the context of secondary findings from genome sequencing. Here we describe the expansion of the framework to include actionability assertions.

methodsInitial development of the actionability rubric was based on previously scored adult gene-condition pairs and individual expert evaluation. Rubric refinement was iterative and based on evaluation, feedback, and discussion. The final rubric was pragmatically evaluated via integration into actionability assessments for 27 gene-condition pairs.

resultsThe resulting rubric has a 4-point scale (limited, moderate, strong, and definitive) and uses the highest-scoring outcome-intervention pair of each gene-condition pair to generate a preliminary assertion. During AWG discussions, predefined criteria and factors guide discussion to produce a consensus assertion for a gene-condition pair, which may differ from the preliminary assertion. The AWG has retrospectively generated assertions for all previously scored gene-condition pairs and are prospectively asserting on gene-condition pairs under assessment, having completed over 170 adult and 188 pediatric gene-condition pairs.

conclusionThe AWG expanded its framework to provide actionability assertions to enhance the clinical value of their resources and increase their utility as decision aids regarding return of secondary findings.

Indexed as

Evidence-Based MedicineGenetic TestingHumansIncidental FindingsWhole Genome SequencingActionability assertionsAssertions rubricClinical actionabilityGenome sequencingSecondary findings

Identifiers

PMID38757444
PMCPMC11298308

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.