Evidence map›Paper›PMID 40827369›Full record

ArticleJournal of genetic counseling2025

Putting control into parents' hands: Parent experiences with a genomic results e-booklet.

Shelin Adam, Patricia Gombas, Michelle Demos, Cyrus Boelman, Mary B Connolly, Kyrstin Lavelle, Jan M Friedman, GenCOUNSEL, Alison M Elliott, Patricia Birch

Abstract read
In one paragraph

Article in Journal of genetic counseling, 2025. 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

10 authors.

Shelin AdamDepartment of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.ORCID 0000-0002-4401-6157
Patricia GombasDepartment of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.ORCID 0009-0003-4572-1741
Michelle DemosBC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.ORCID 0000-0002-3380-0843
Cyrus BoelmanBC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.ORCID 0000-0001-9943-1561
Mary B ConnollyBC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.ORCID 0000-0002-7784-942X
Kyrstin LavelleBC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.ORCID 0009-0008-4079-6185
Jan M FriedmanDepartment of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.ORCID 0000-0002-7482-9570
GenCOUNSEL
Alison M ElliottDepartment of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.ORCID 0000-0002-9896-1314
Patricia BirchDepartment of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.ORCID 0000-0003-3831-2344

Funding

BC Children's Hospital FoundationBC Women's Hospital FoundationCIHRGenome British ColumbiaGenome CanadaGenome QuebecProvincial Health Services Authority
6 · The paper itself

Abstract

We evaluated the clinical use of a customizable, multi-language, Genomic Results Booklet (GRB)-a printable e-booklet co-designed with parents-to provide information and guidance to families post-genomic testing. The GRB provides individual genomic results, with implications and resources, all in family-friendly language. Participants were parents of children offered genomic testing in a pediatric neurology clinic. Two and eight weeks after GRB receipt, parents completed surveys to assess usage of the e-booklet. Parents then had a semi-structured telephone interview about their experiences, which were analyzed using interpretive description. Thirty-four parents received a customized GRB, including versions in Punjabi and Arabic. Seventeen booklets were for pathogenic test results, and the other 17 were for noninformative results. The surveys showed that all families would recommend the GRB and had used its resources or supports. About 80% shared it with others, and 67% described it as helpful in future planning. Analysis of 20 parent-interviews revealed that parents valued understandable, relevant information; a written e-pamphlet; a list of appropriate resources; and practical guidance. The GRB is valued by parents to explain their individual genomic testing results, to provide useful supports, specific resources, and a sense of direction in the weeks after receiving results.

Indexed as

Genetic TestingWhole Genome SequencingAdultBritish ColumbiaFemaleHealth LiteracyHumansInterviews as TopicLanguageMaleNeurologyParentsPediatricsSurveys and Questionnairese‐bookletgenetic counselinggenomic resultsgenomic sequencingpatient resources

Identifiers

PMID40827369
PMCPMC12362232

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.