Evidence map›Paper›PMID 42050642›Full record

ArticleBMC medical genomics2026

Levers and constraints on general practitioners offering and managing reproductive genetic carrier screening in Australian primary care: a rich graphic of the complex context.

Maryam Vizheh, Klay Lamprell, Michaela Cormack, Romika Patel, Samran Sheriff, Kate Churruca, Louise A Ellis, Jeffrey Braithwaite, Janet C Long

Abstract read
In one paragraph

Article in BMC medical genomics, 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

9 authors.

Maryam VizhehCentre for Healthcare Resilience and Implementation Science, Australian Institute of Health Innovation, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, 2109, Australia. maryam.vizheh@mq.edu.au.
Klay LamprellCentre for Healthcare Resilience and Implementation Science, Australian Institute of Health Innovation, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, 2109, Australia.
Michaela CormackCentre for Healthcare Resilience and Implementation Science, Australian Institute of Health Innovation, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, 2109, Australia.
Romika PatelCentre for Healthcare Resilience and Implementation Science, Australian Institute of Health Innovation, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, 2109, Australia.
Samran SheriffCentre for Healthcare Resilience and Implementation Science, Australian Institute of Health Innovation, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, 2109, Australia.
Kate ChurrucaCentre for Healthcare Resilience and Implementation Science, Australian Institute of Health Innovation, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, 2109, Australia.
Louise A EllisCentre for Healthcare Resilience and Implementation Science, Australian Institute of Health Innovation, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, 2109, Australia.
Jeffrey BraithwaiteCentre for Healthcare Resilience and Implementation Science, Australian Institute of Health Innovation, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, 2109, Australia.
Janet C LongCentre for Healthcare Resilience and Implementation Science, Australian Institute of Health Innovation, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, 2109, Australia.

Funding

Medical Research Future Fund 2025125
6 · The paper itself

Abstract

Reproductive genetic carrier screening (RGCS) identifies people who have an increased chance of having a child with a serious genetic condition. In Australia, since November 2022, RGCS for three conditions, cystic fibrosis, spinal muscular atrophy, and fragile X syndrome, has been publicly funded via Medicare (Australia's universal health insurance scheme). Therefore, tests are offered at no cost to eligible people and are accessible through general practitioners (GPs), making primary care a key point of access. This study aimed to develop a rich graphic illustrating the ecosystem of offering RGCS in Australian primary care. The three-stage, exploratory, qualitative approach involved: (1) constructing the first draft of the rich graphic using literature, policy documents, and team expertise; (2) conducting semi-structured interviews with eleven key informants representing diverse stakeholders; and (3) conducting a survey with key informants to review the penultimate version and produce the final version. The final rich graphic positioned GPs at the centre of a network of six stakeholder groups: consumers, government, laboratories, professional bodies, healthcare organisations, and consumer support groups. Inductive thematic analysis identified three overarching themes: (1) reinforcing patterns and feedback cycles; (2) structural misalignments and systemic tensions; and (3) emergent adaptations and system responses. Our analysis revealed that several factors influencing GPs' ability to offer RGCS are not isolated but parts of dynamic patterns of linkages, relationships, interactions, interdependencies, feedback loops, and behaviours that generate complex, sometimes unintended and contradictory, system-level effects, collectively shaping the complex system. Using rich graphic methodology revealed chains of interdependencies that would have remained obscured by using traditional linear implementation frameworks.

Indexed as

General PractitionersGenetic Carrier ScreeningPrimary Health CareReproductionAustraliaFemaleHumansComplexityGenetic TestingGenomicsImplementation scienceReproductive genetic carrier screeningRich graphic

Identifiers

PMID42050642
PMCPMC13267267

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.