Evidence map›Paper›PMID 42431660›Full record

ArticleBMJ open2026

Building genetic healthcare together: an Australian co-production three-phase mixed-methods research protocol with people with intellectual disability.

Iva Strnadová, Michelle Tso, Julie Loblinzk Refalo, Natalie Roberts, Joanne Danker, Skie Sarfaraz, Jackie Boyle, Bronwyn Terrill, Celia Halliburton, Claudia Pantoja Mardones and 15 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMJ open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

25 authors.

Iva StrnadováSchool of Education, University of New South Wales, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0002-8513-5400
Michelle TsoDiscipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.
Julie Loblinzk RefaloSelf Advocacy Sydney, Sydney, New South Wales, Australia.
Natalie RobertsDiscipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.ORCID http://orcid.org/0009-0000-9906-4589
Joanne DankerSchool of Education, University of New South Wales, Sydney, New South Wales, Australia.
Skie SarfarazSchool of Education, University of New South Wales, Sydney, New South Wales, Australia.
Jackie BoyleDiscipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0002-9943-8955
Bronwyn TerrillSt Vincent's Healthcare Clinical Campus, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0003-0263-363X
Celia HalliburtonNSW Ministry of Health, St Leonards, New South Wales, Australia.
Claudia Pantoja MardonesSchool of Education, University of New South Wales, Sydney, New South Wales, Australia.
Sarah HayesSchool of Education, University of New South Wales, Sydney, New South Wales, Australia.
Sam HurdSchool of Education, University of New South Wales, Sydney, New South Wales, Australia.
Caitlin KingCentral Queensland University, Brisbane, Queensland, Australia.
Kristine Barlow-StewartNorthern Clinical School, Faculty of Medicine and Health, University of Sydney, St Leonards, New South Wales, Australia.ORCID http://orcid.org/0000-0003-1831-9944
Elizabeth EvansPsychologist in private practice, Sydney, New South Wales, Australia.
Helen LeonardThe University of Western Australia, Perth, Western Australia, Australia.
Helen Mar FanGenetic Health Queensland, Brisbane, Queensland, Australia.
Jonathan RodgersGenetic Health Queensland, Brisbane, Queensland, Australia.
Yvette VellaPrimary and Community Health, Northern Sydney Local Health District, St Leonards, New South Wales, Australia.
Julie McGaughranGenetic Health Queensland, Brisbane, Queensland, Australia.
Stephanie BestUniversity of Melbourne, Melbourne, Victoria, Australia.
Erin TurbittUniversity of Technology Sydney, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0002-6650-9702
Jackie Leach ScullyUniversity of New South Wales Disability Innovation Institute, Sydney, New South Wales, Australia.
Greg PrattCentral Queensland University, Brisbane, Queensland, Australia.
Elizabeth E PalmerDiscipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia elizabeth.palmer@unsw.edu.au.ORCID http://orcid.org/0000-0003-1844-215X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionPeople with intellectual disability face significant barriers to accessing genetic healthcare, including during appointments. Many adults with intellectual disability are denied opportunities to discuss genetic testing that could improve their health and well-being. This study follows best practice in inclusive research, with co-researchers with intellectual disability co-leading alongside educational, disability and clinical experts to co-design and implement a respectful, accessible and inclusive national model of genetic healthcare. METHODS AND ANALYSIS: This three-phase qualitative study positions people with intellectual disability as active researchers and partners throughout. Phase 1 will identify barriers and enablers to genetic healthcare for people with intellectual disability by engaging with approximately 100 participants-people with intellectual disability (with and without genetic testing experience), families/support people and genetic healthcare professionals-through interviews, focus groups, arts-based methods and yarning circles. Phase 2 will co-design and evaluate Guiding Principles, providing solutions to identified barriers and leveraging identified facilitators. Phase 3 will develop practical resources using workshops across Australia, guided by three Community Engagement Groups, including people with intellectual disability, families/support people and healthcare providers. This phase will also investigate strategies to optimise the national roll-out and implementation of resources among health professionals, people with intellectual disability and their families/carers. Aboriginal and Torres Strait Islander research methods are integrated throughout, led by Indigenous researchers. ETHICS AND DISSEMINATION: Ethics approval has been granted by UNSW Sydney Human Research Ethics Committee (HC230353) and the Australian Institute of Aboriginal and Torres Strait Islander Studies (REC-0284). Participants will provide written consent using Easy Read or plain English materials. Findings will be disseminated through journal articles, conferences, websites and accessible formats, including Easy Read summaries and videos.See the Graphical Abstract for a visual summary in online supplemental file 1.

Indexed as

Genetic TestingHealth Services AccessibilityIntellectual DisabilityAustraliaFocus GroupsHumansQualitative ResearchResearch DesignAustralian Aboriginal and Torres Strait Islander PeoplesDevelopmental neurology & neurodisabilityGENETICSHealth EquityHealth LiteracyMEDICAL EDUCATION & TRAINING

Identifiers

PMID42431660
PMCPMC13358344

What OpenQuestion holds

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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.