Evidence map›Paper›PMID 34945775›Full record

ArticleJournal of personalized medicine2021

Defining the Critical Components of Informed Consent for Genetic Testing.

Kelly E Ormond, Maia J Borensztein, Miranda L G Hallquist, Adam H Buchanan, William Andrew Faucett, Holly L Peay, Maureen E Smith, Eric P Tricou, Wendy R Uhlmann, Karen E Wain and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of personalized medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.

0numbers the graph read from it
0cells of the map it votes in
21citing 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

21 citing papers in PubMed.

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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

12 authors.

Kelly E OrmondDepartment of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Maia J BorenszteinDepartment of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Miranda L G HallquistGenomic Medicine Institute, Geisinger, Danville, PA 17822, USA.ORCID 0000-0001-8554-2447
Adam H BuchananGenomic Medicine Institute, Geisinger, Danville, PA 17822, USA.ORCID 0000-0002-6518-2453
William Andrew FaucettGeisinger Commonwealth School of Medicine, Geisinger, Danville, PA 17822, USA.ORCID 0000-0003-3051-3256
Holly L PeayGenomics, Bioinformatics, and Translational Research Center, RTI Internationa, Research Triangle Park, NC 27709, USA.
Maureen E SmithFeinberg School of Medicine, Northwestern University, Chicago, IL 60290, USA.ORCID 0000-0001-9480-1092
Eric P TricouDepartment of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Wendy R UhlmannDepartment of Internal Medicine, Division of Genetic Medicine, University of Michigan, Ann Arbor, MI 48109, USA.
Karen E WainAutism and Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA.ORCID 0000-0002-3711-7670
Curtis R CoughlinCenter for Bioethics and Humanities, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
On Behalf Of The Clinical Genome CADRe Workgroup

Funding

Resource ProjectU41HG006834 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI REHM, HEIDI L · 2013 to 2020
$26.9M
NHGRI NIH HHS U41HG006834, U41HG009649, U41HG009650
6 · The paper itself

Abstract

purposeInformed consent for genetic testing has historically been acquired during pretest genetic counseling, without specific guidance defining which core concepts are required.

methodsThe Clinical Genome Resource (ClinGen) Consent and Disclosure Recommendations Workgroup (CADRe) used an expert consensus process to identify the core concepts essential to consent for clinical genetic testing. A literature review identified 77 concepts that are included in informed consent for genetic tests. Twenty-five experts (9 medical geneticists, 8 genetic counselors, and 9 bioethicists) completed two rounds of surveys ranking concepts' importance to informed consent.

resultsThe most highly ranked concepts included: (1) genetic testing is voluntary; (2) why is the test recommended and what does it test for?; (3) what results will be returned and to whom?; (4) are there other types of potential results, and what choices exist?; (5) how will the prognosis and management be impacted by results?; (6) what is the potential family impact?; (7) what are the test limitations and next steps?; and (8) potential risk of genetic discrimination and legal protections.

conclusionDefining the core concepts necessary for informed consent for genetic testing provides a foundation for quality patient care across a variety of healthcare providers and clinical indications.

Indexed as

genetic counselinggenetic testinginformed consent

Identifiers

PMID34945775
PMCPMC8706495

What OpenQuestion holds

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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.