Evidence map›Paper›PMID 34115423›Full record

ArticleJournal of genetic counseling2022

Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.

Allyn McConkie-Rosell, Kelly Schoch, Jennifer Sullivan, Rebecca C Spillmann, Heidi Cope, Queenie K-G Tan, Christina G S Palmer, Undiagnosed Disease Network, Stephen R Hooper, Vandana Shashi

Registry-linked trialOpen access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of genetic counseling, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.4field-weighted citation impact, top 46% of its field
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.

NCT02450851 recruitingnot on this map

Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network

TypeobservationalSponsorNational Human Genome Research Institute (NHGRI)Ran2015 to 2028Enrolled20,000ConditionsGenetic Disease
3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. 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

10 authors at 3 institutions in 1 country.

Allyn McConkie-RosellDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.ORCID 0000-0003-3742-7799
Kelly SchochDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Jennifer SullivanDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Rebecca C SpillmannDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Heidi CopeDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Queenie K-G TanDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Christina G S PalmerDepartment of Psychiatry and Biobehavioral Sciences, Institute for Society and Genetics, UCLA, Los Angeles, CA, USA.
Undiagnosed Disease NetworkNIH Common Fund, Bethesda, MD, USA.
Stephen R HooperDepartment of Allied Health Sciences, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Vandana ShashiDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Duke Medical Center · USUniversity of North Carolina at Chapel Hill · USNeurobehavioral Systems · US

Funding

An integrated and diverse genomic medicine program for undiagnosed diseasesU01HG007672 · NHGRI · DUKE UNIVERSITY · PI SHASHI, VANDANA · 2014 to 2022
$13.4M
UCLA clinical site for the investigation of undiagnosed disordersU01HG007703 · NHGRI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MARTINEZ-AGOSTO, JULIAN, NELSON, STANLEY F. · 2014 to 2022
$10.1M
C BRIGGSAE AND C ELEGANS GENOMIC SEQUENCE COMPARISONF32HG000130 · NHGRI · WASHINGTON UNIVERSITY · PI COUCH, JENNIFER A · 1994 to 1995
–
NHGRI NIH HHS F32 HG000130NHGRI NIH HHS U01 HG007672NHGRI NIH HHS U01 HG007703NIH HHS U01HG007672NIH HHS UO1HG007703
6 · The paper itself

Abstract

The Genome Empowerment Scale (GEmS), developed as a research tool, assesses perspectives of parents of children with undiagnosed disorders about to undergo exome or genome sequencing related to the process of empowerment. We defined genomic healthcare empowerment as follows: perceived ability to understand and seek new information related to the genomic sequencing, manage emotions related to the diagnostic process and outcomes, and utilize genomic sequencing information to the betterment of the individual/child and family. The GEmS consists of four scales, two are primarily emotion-focused (Meaning of a Diagnosis, and Emotional Management of the Process) and two are action-oriented (Seeking Information and Support, and Implications and Planning). The purpose of this research was to provide a strategy for interpreting results from the GEmS and present illustrative cases. These illustrations should serve to facilitate use of the GEmS in the clinical and research arena, particularly with respect to guiding genetic counseling processes for parents of children with undiagnosed conditions.

Indexed as

GenomicsParentsChildDelivery of Health CareExome SequencingFamilyHumansexome and genomic sequencinggenetic counselinghealthcare empowermentparental perspectivesrare disordersundiagnosed disorders

Identifiers

PMID34115423
PMCPMC8664895
OpenAlexW3169046285

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

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.