Evidence map›Paper›PMID 28966657›Full record

ArticlePersonalized medicine2017

How do providers discuss the results of pediatric exome sequencing with families?

Sarah A Walser, Allison Werner-Lin, Rebecca Mueller, Victoria A Miller, Sawona Biswas, Barbara A Bernhardt

Abstract read
In one paragraph

Article in Personalized medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing 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

11 citing papers in PubMed.

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  7. Optimizing genetics online resources for diverse readers.Genetics in medicine : official journal of the American College of Medical Genetics · 2020
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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

6 authors.

Sarah A WalserTranslational Medicine & Human Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
Allison Werner-LinSchool of Social Policy & Practice, University of Pennsylvania, Philadelphia, PA 19104, USA.
Rebecca MuellerDepartment of History & Sociology of Science, University of Pennsylvania, Philadelphia, PA 19104, USA.
Victoria A MillerDivision of Adolescent Medicine, Department of Pediatrics, The Children's Hospital of Philadelphia & Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 9104, USA.
Sawona BiswasDivision of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Barbara A BernhardtTranslational Medicine & Human Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.

Funding

Applying Genomic Sequencing in PediatricsU01HG006546 · NHGRI · CHILDREN'S HOSP OF PHILADELPHIA · PI KRANTZ, IAN D. · 2012 to 2016
$10.6M
NHGRI NIH HHS U01 HG006546
6 · The paper itself

Abstract

aimThis study provides preliminary data on the process and content of returning results from exome sequencing offered to children through one of the Clinical Sequencing Exploratory Research (CSER) projects. MATERIALS &

methodsWe recorded 25 sessions where providers returned diagnostic and secondary sequencing results to families. Data interpretation utilized inductive thematic analysis.

resultsTypically, providers followed a results report and discussed diagnostic findings using technical genomic and sequencing concepts. We identified four provider processes for returning results: teaching genetic concepts; assessing family response; personalizing findings; and strengthening patient-provider relationships.

conclusionSessions should reflect family interest in medical management and next steps, and minimize detailed genomic concepts. As the scope and complexity of sequencing increase, the traditional information-laden counseling model requires revision.

Indexed as

genetic counselinggenetic sequencinggenetic testingpediatricprovider communication

Identifiers

PMID28966657
PMCPMC5616214

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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.