Uptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia

Mordaunt, Dylan; Dalziel, Kim; Goranitis, Ilias; Stark, Zornitza

doi:10.1038/s41431-023-01417-6

Cited by 12 publications

(3 citation statements)

References 10 publications

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“…It is illuminating how effective clinical implementation is more than just a permissive reimbursement code but also a system‐wide opportunity to understand, educate, engage and address health inequity underpinned by geographical and socioeconomic disparities. Similar early outcomes and utilisation for other disease areas and MBS item numbers might not be as positive, 24 with further post‐implementation research across different clinical areas and indications now being a priority. While the current status quo in nephrology might not be perfect, it remains a substantial improvement from the recent past.…”

Section: Figurementioning

confidence: 99%

Implementation of reimbursement for genomic testing in Australia: early successes and the pathway ahead

Mallett,

Ingles,

Goranitis

et al. 2024

Internal Medicine Journal

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Section: Figurementioning

confidence: 99%

Implementation of reimbursement for genomic testing in Australia: early successes and the pathway ahead

Mallett,

Ingles,

Goranitis

et al. 2024

Internal Medicine Journal

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“…16,17 A recent report on actual versus expected uptake of Medicare-funded genomic testing in paediatrics has shown a significant (almost threefold) reduced uptake in Australia, with considerable geographical variation between states. 18 Possible causes included the clinical genetics workforce crisis, 19,20 and lack of MDT support for paediatricians. Also, different funding arrangements exist in each state, which means that some state-based public hospital services are already paying for testing, and therefore cannot access the federally funded Medicare item.…”

Section: A Genomics Mdt Model Facilitates Testing and Enables Mainstr...mentioning

confidence: 99%

Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine

Ma,

Newing,

O'Shea

et al. 2024

J Paediatrics Child Health

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AimRecent rapid advances in genomics are revolutionising patient diagnosis and management of genetic conditions. However, this has led to many challenges in service provision, education and upskilling requirements for non‐genetics health‐care professionals and remuneration for genomic testing. In Australia, Medicare funding with a Paediatric genomic testing item for patients with intellectual disability or syndromic features has attempted to address this latter issue. The Sydney Children's Hospitals Network – Westmead (SCHN‐W) Clinical Genetics Department established Paediatric and Neurology genomic multidisciplinary team (MDT) meetings to address the Medicare‐specified requirement for discussion with clinical genetics, and increasing genomic testing advice requests.MethodsThis SCHN‐W genomic MDT was evaluated with two implementation science frameworks – the RE‐AIM (Reach, Effectiveness, Adoption, Implementation, Maintenance) and GMIR – Genomic Medicine Integrative Research frameworks. Data from June 2020 to July 2022 were synthesised and evaluated, as well as process mapping of the MDT service.ResultsA total of 205 patients were discussed in 34 MDT meetings, facilitating 148 genomic tests, of which 73 were Medicare eligible. This was equivalent to 26% of SCHN‐W genetics outpatient activity, and 13% of all Medicare‐funded paediatric genomic testing in NSW. 39% of patients received a genetic diagnosis.ConclusionThe genomic MDT facilitated increased genomic testing at a tertiary paediatric centre and is an effective model for mainstreaming and facilitating precision medicine. However, significant implementation issues were identified including cost and sustainability, as well as the high level of resourcing that will be required to scale up this approach to other areas of medicine.

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“…The impacts of this revolution in diagnostic care have been substantial both for individual patients and families, but also across health systems [2][3][4]. Achieving effective implementation within health systems can be complex and requires understanding health service utilisation patterns [5] in addition to contemporary assessments of broader utility. Given that the overwhelming number of studies reported to date of diagnostic genomics are shortterm observational cohort studies rather than long-term randomised trials, the ability to assess utility in a comprehensive manner is impeded by the lack of control comparators as well as a focus on immediate outcomes such as diagnostic yield.…”

Section: Introductionmentioning

confidence: 99%

Determining the utility of diagnostic genomics: a conceptual framework

et al. 2023

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Background Diagnostic efficacy is now well established for diagnostic genomic testing in rare disease. Assessment of overall utility is emerging as a key next step, however ambiguity in the conceptualisation and measurement of utility has impeded its assessment in a comprehensive manner. We propose a conceptual framework to approach determining the broader utility of diagnostic genomics encompassing patients, families, clinicians, health services and health systems to assist future evidence generation and funding decisions. Body Building upon previous work, our framework posits that utility of diagnostic genomics consists of three dimensions: the domain or type and extent of utility (what), the relationship and perspective of utility (who), and the time horizon of utility (when). Across the description, assessment, and summation of these three proposed dimensions of utility, one could potentially triangulate a singular point of utility axes of type, relationship, and time. Collectively, the multiple different points of individual utility might be inferred to relate to a concept of aggregate utility. Conclusion This ontological framework requires retrospective and prospective application to enable refinement and validation. Moving forward our framework, and others which have preceded it, promote a better characterisation and description of genomic utility to inform decision-making and optimise the benefits of genomic diagnostic testing.

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Uptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia

Cited by 12 publications

References 10 publications

Implementation of reimbursement for genomic testing in Australia: early successes and the pathway ahead

Implementation of reimbursement for genomic testing in Australia: early successes and the pathway ahead

Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine

Determining the utility of diagnostic genomics: a conceptual framework

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