Evidence map›Paper›PMID 34849253›Full record

ArticleJournal of clinical and translational science2021

Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program.

Sabrina Malone Jenkins, Rachel Palmquist, Ashley L Kapron, Carrie Torr, D Hunter Best, Mary Anne Karren, Luca Brunelli, Mark Yandell, Martin Tristani-Firouzi, David Dimmock and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of clinical and translational science, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

14 authors.

Sabrina Malone JenkinsDivision of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
Rachel PalmquistDivision of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
Ashley L KapronCenter for Genomic Medicine, University of Utah Health, Salt Lake City, UT, USA.
Carrie TorrDivision of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
D Hunter BestARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA.
Mary Anne KarrenUtah Center for Genetic Discovery, Department of Human Genetics, University of Utah, Salt Lake City, UT, USA.
Luca BrunelliDivision of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
Mark YandellUtah Center for Genetic Discovery, Department of Human Genetics, University of Utah, Salt Lake City, UT, USA.
Martin Tristani-FirouziDivision of Cardiology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
David DimmockRady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Brian WattsOffice of General Counsel, University of Utah, Salt Lake City, UT, USA.
Jeffrey R BotkinDivision of Medical Ethics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.
Ann JohnsonInstitutional Review Board, University of Utah, Salt Lake City, UT, USA.
Joshua L BonkowskyDivision of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.

Funding

Utah Center for Clinical and Translational ScienceUL1TR002538 · NCATS · UNIVERSITY OF UTAH · PI HESS, RACHEL, MAJERSIK, JENNIFER JUHL · 2018 to 2022
$26.0M
NCATS NIH HHS UL1 TR002538
6 · The paper itself

Abstract

Rapid whole genome sequencing (rapid WGS) is a powerful diagnostic tool that is becoming increasingly practical for widespread clinical use. However, protocols for its use are challenging to implement. A significant obstacle to clinical adoption is that laboratory certification requires an initial research development phase, which is constrained by regulations from returning results. Regulations preventing return of results have ethical implications in cases which might impact patient outcomes. Here, we describe our experience with the development of a rapid WGS research protocol, that balanced the requirements for laboratory-validated test development with the ethical needs of clinically relevant return of results.

Identifiers

PMID34849253
PMCPMC8596074

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.