Evidence map›Paper›PMID 39210048›Full record

ArticleEuropean journal of human genetics : EJHG2024

Becoming agents for genomic change: genetic counsellors' views of patient care and implementation influences when genomics is mainstreamed.

Trang Thu Do, Melissa Martyn, Belinda McClaren, Alison McEwen, Clara Gaff

Abstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing 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

16 citing papers in PubMed.

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  16. New guidelines for rare cancer syndromes.European journal of human genetics : EJHG · 2024
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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

5 authors.

Trang Thu DoMurdoch Children's Research Institute, Melbourne, VIC, Australia.ORCID 0000-0002-1524-6711
Melissa MartynMurdoch Children's Research Institute, Melbourne, VIC, Australia.ORCID 0000-0001-5263-4329
Belinda McClarenMurdoch Children's Research Institute, Melbourne, VIC, Australia.ORCID 0000-0002-1372-8258
Alison McEwenGraduate School of Health, University of Technology Sydney, Sydney, NSW, Australia.ORCID 0000-0001-8705-1190
Clara GaffMurdoch Children's Research Institute, Melbourne, VIC, Australia. cgaff@unimelb.edu.au.ORCID 0000-0003-0160-4159

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic counsellors (GCs) across the world are increasingly transitioning beyond clinical genetics services to meet the growing demands for genomic healthcare. This presents a unique opportunity for GCs to be 'genomic change agents' as they work in alternative models of care. Through various innovative models of mainstream care funded through a change program, we explored the views of GCs regarding their position as 'genomic change agents' and what may hinder or drive the success of their evolving roles. Guided by the Diffusion of Innovation Theory, we conducted qualitative interviews with all twelve GCs employed by the change program in different models of providing genomics across five specialties in Australia. Audio-recordings of all interviews were transcribed verbatim and analysed using inductive content analysis. Findings show that early in these new roles, participants held varied descriptions of 'genomics mainstreaming': some envisioned it as an end state exclusive to medical specialists practicing genomics while others saw the involvement of GCs as crucial. Participants believed they were uniquely positioned to expedite patient access to genomic testing and counselling and enhance medical specialists' capability to use genomics. Challenges included hesitancy of some medical specialists regarding the value of genomics in healthcare and potential tension arising from distinct perspectives and practice between genetic and non-genetic professionals. Participants anticipated a decline in the standard of care when non-genetic colleagues managed consent discussion and result disclosure. Our study underscores leadership support and peer connection with those in similar roles as essential elements for GCs' success in mainstream settings.

Indexed as

Genetic CounselingGenomicsAdultAttitude of Health PersonnelAustraliaFemaleGenetic TestingHumansMalePatient Care

Identifiers

PMID39210048
PMCPMC11606944

What OpenQuestion holds

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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.