Evidence map›Paper›PMID 33639930›Full record

ArticleBMC medical genomics2021

A dynamic systems view of clinical genomics: a rich picture of the landscape in Australia using a complexity science lens.

Janet C Long, Hossai Gul, Elise McPherson, Stephanie Best, Hanna Augustsson, Kate Churruca, Louise A Ellis, Jeffrey Braithwaite

Abstract read
In one paragraph

Article in BMC medical genomics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
–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

15 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Mainstreaming genomic testing for mitochondrial disease in Australia.European journal of human genetics : EJHG · 2026
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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

8 authors.

Janet C LongAustralian Institute of Health Innovation, Macquarie University, Sydney, Australia. janet.long@mq.edu.au.ORCID 0000-0002-0553-682X
Hossai GulAustralian Institute of Health Innovation, Macquarie University, Sydney, Australia.
Elise McPhersonAustralian Institute of Health Innovation, Macquarie University, Sydney, Australia.
Stephanie BestAustralian Institute of Health Innovation, Macquarie University, Sydney, Australia.
Hanna AugustssonAustralian Institute of Health Innovation, Macquarie University, Sydney, Australia.
Kate ChurrucaAustralian Institute of Health Innovation, Macquarie University, Sydney, Australia.
Louise A EllisAustralian Institute of Health Innovation, Macquarie University, Sydney, Australia.
Jeffrey BraithwaiteAustralian Institute of Health Innovation, Macquarie University, Sydney, Australia.

Funding

National Health and Medical Research Council APP1113531
6 · The paper itself

Abstract

backgroundClinical genomics represents a paradigm shifting change to health service delivery and practice across many conditions and life-stages. Introducing this complex technology into an already complex health system is a significant challenge that cannot be managed in a reductionist way. To build robust and sustainable, high quality delivery systems we need to step back and view the interconnected landscape of policymakers, funders, managers, multidisciplinary teams of clinicians, patients and their families, and health care, research, education, and philanthropic institutions as a dynamic whole. This study holistically mapped the landscape of clinical genomics within Australia by developing a complex graphic: a rich picture. Using complex systems theory, we then identified key features, challenges and leverage points of implementing clinical genomics.

methodsWe used a multi-stage, exploratory, qualitative approach. We extracted data from grey literature, empirical literature, and data collected by the Australian Genomic Health Alliance. Nine key informants working in clinical genomics critiqued early drafts of the picture, and validated the final version.

resultsThe final graphic depicts 24 stakeholder groups relevant to implementation of genomics into Australia. Clinical genomics lies at the intersection of four nested systems, with interplay between government, professional bodies and patient advocacy groups. Barriers and uncertainties are also shown. Analysis using complexity theory showed far-reaching interdependencies around funding, and identified unintended consequences.

conclusionThe rich picture of the clinical genomic landscape in Australia is the first to show key stakeholders, agencies and processes and their interdependencies. Participants who critiqued our results were instantly intrigued and engaged by the graphics, searching for their place in the whole and often commenting on insights they gained from seeing the influences and impacts of other stakeholder groups on their own work. Funding patterns showed unintended consequences of increased burdens for clinicians and inequity of access for patients. Showing the system as a dynamic whole is the only way to understand key drivers and barriers to largescale interventions.

trial registrationNot applicable.

Indexed as

GenomicsAustraliaDelivery of Health CareHumansComplexityHealth services researchImplementationSustainability

Identifiers

PMID33639930
PMCPMC7912922

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.