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Aim: Recent 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. Methods: This 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. Results: A 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. Conclusion: The 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. [ABSTRACT FROM AUTHOR]

The study of insect flight is important for conservation and sustainability efforts, as predicting insect dispersal can aid management programmes in tackling economic and ecological harm from, for example, invasive species. Flight mills are invaluable tools for measuring the factors of insect flight under laboratory conditions, as they lower several technical and financial barriers to conduct experiments. It is especially difficult, however, to make assumptions about the energetic cost of tethered flights conducted using different tethers, or even on different flight mills, due to the mechanical variability of the bearing friction and air resistance of the rotating assembly. This additional uncertainty necessitates a larger number of replicates for any given standard of statistical confidence. By characterising flight mill friction, this uncertainty can both be reduced in magnitude and assigned a specific, well‐defined numerical value. We present a simple methodology to characterise this friction through dynamic calibration of the flight mill, at a high statistical confidence. This study uses videography of a flight mill undergoing free velocity decay due to friction, using an in‐house developed software to extract angular velocity from video data. However, the technique is readily adaptable to other measurement techniques. Using the velocity, alongside the mass moment of inertia of the flight mill, allows us to determine the rotational friction coefficient. This friction coefficient provides precise measurements of thrust production, and therefore the energy expenditure of flight, by the tethered insect. [ABSTRACT FROM AUTHOR]

Objectives: To estimate the health care and societal costs of inherited retinal diseases (IRDs) in Australia. Design, setting, participants: Microsimulation modelling study based on primary data — collected in interviews of people with IRDs who had ophthalmic or genetic consultations at the Children's Hospital at Westmead or the Save Sight Institute (both Sydney) during 1 January 2019 – 31 December 2020, and of their carers and spouses — and linked Medicare Benefits Schedule (MBS) and Pharmaceutical Benefits Schedule (PBS) data. Main outcome measures: Annual and lifetime costs for people with IRDs and for their carers and spouses, grouped by payer (Australian government, state governments, individuals, private health insurance) and type (health care costs; societal costs: social support, National Disability Insurance Scheme (NDIS), income and taxation, costs associated with caring for family members with IRDs); estimated annual national cost of IRDs. Results: Ninety‐four people (74 adults, 20 people under 18 years; 55 girls and women [59%]) and 30 carers completed study surveys (participation rate: adults, 66%; children, 66%; carers, 63%). Total estimated lifetime cost was $5.2 million per person with an IRD, of which 87% were societal and 13% health care costs. The three highest cost items were lost income for people with IRDs ($1.4 million), lost income for their carers and spouses ($1.1 million), and social spending by the Australian government (excluding NDIS expenses: $1.0 million). Annual costs were twice as high for people who were legally blind as for those with less impaired vision ($83 910 v $41 357 per person). The estimated total annual cost of IRDs in Australia was $781 million to $1.56 billion. Conclusion: As the societal costs associated with IRDs are much larger than the health care costs, both contributors should be considered when assessing the cost‐effectiveness of interventions for people with IRDs. The increasing loss of income across life reflects the impact of IRDs on employment and career opportunities. [ABSTRACT FROM AUTHOR]

Keywords: Health services research; Genetic testing; Molecular medicine EN Health services research Genetic testing Molecular medicine 559 563 5 12/09/22 20221201 NES 221201 Implementation science based health care research is urgently needed for genomic and precision medicine in Australia Precision medicine is a tailored approach to health, incorporating an individual's genetic make-up, environment and lifestyle, and is a new frontier offering much promise for disease prevention and cure.[1] Its recent rise has been largely driven by rapid advances in genomic medicine, with sequencing of an individual's genetic code identifying opportunities for precision health care, therapies and diagnostics. Finally, the introduction of genomic medicine into primary care and population screening will challenge existing health care infrastructure. Genomic medicine and its contribution to precision medicine presents a unique set of challenges to a health system trying to keep up with the fast pace of advances over the past decade. [Extracted from the article]

Monogenic rare disorders contribute significantly to paediatric morbidity and mortality, and elucidation of the underlying genetic cause may have benefits for patients, families and clinicians. Advances in genomic technology have enabled diagnostic yields of up to 50% in some paediatric cohorts. This has led to an increase in the uptake of genetic testing across paediatric disciplines. This can place an increased burden on paediatricians, who may now be responsible for interpreting and explaining test results to patients. However, genomic results can be complex, and sometimes inconclusive for the ordering paediatrician. Results may also cause uncertainty and anxiety for patients and their families. The paediatrician's genetic literacy and knowledge of genetic principles are therefore critical to inform discussions with families and guide ongoing patient care. Here, we present four hypothetical case vignettes where genomic testing is undertaken, and discuss possible results and their implications for paediatricians and families. We also provide a list of key terms for paediatricians. [ABSTRACT FROM AUTHOR]

Cantú syndrome (CS), characterized by hypertrichosis, distinctive facial features, and complex cardiovascular abnormalities, is caused by pathogenic variants in ABCC9 and KCNJ8 genes. These genes encode gain‐of‐function mutations in the regulatory (SUR2) and pore‐forming (Kir6.1) subunits of KATP channels, respectively, suggesting that channel‐blocking sulfonylureas could be a viable therapy. Here we report a neonate with CS, carrying a heterozygous ABCC9 variant (c.3347G>A, p.Arg1116His), born prematurely at 32 weeks gestation. Initial echocardiogram revealed a large patent ductus arteriosus (PDA), and high pulmonary pressures with enlarged right ventricle. He initially received surfactant and continuous positive airway pressure ventilation and was invasively ventilated for 4 weeks, until PDA ligation. After surgery, he still had ongoing bilevel positive airway pressure (BiPAP) requirement, but was subsequently weaned to nocturnal BiPAP. He was treated for pulmonary hypertension with Sildenafil, but failed to make further clinical improvement. A therapeutic glibenclamide trial was commenced in week 11 (initial dose of 0.05 mg–1 kg–1 day–1 in two divided doses). After 1 week of treatment, he began to tolerate time off BiPAP when awake, and edema improved. Glibenclamide was well tolerated, and the dose was slowly increased to 0.15 mg−1 kg−1day−1 over the next 12 weeks. Mild transient hypoglycemia was observed, but there was no cardiovascular dysfunction. Confirmation of therapeutic benefit will require studies of more CS patients but, based on this limited experience, consideration should be given to glibenclamide as CS therapy, although problems associated with prematurity, and complications of hypoglycemia, might limit outcome in critically ill neonates with CS. [ABSTRACT FROM AUTHOR]

Health services research, Genetic testing, Molecular medicine Keywords: Health services research; Genetic testing; Molecular medicine EN Health services research Genetic testing Molecular medicine 331 331 1 04/18/23 20230415 NES 230415 Acknowledgements Alan Ma is the recipient of a Sydney Health Partners' Research Translation Fellowship (https://sydneyhealthpartners.org.au/work-with-us/research-translation-fellowships), which funds part of his clinical time to perform implementation science based research in genomics. [Extracted from the article]

CHARGE syndrome is a complex genetic syndrome, owing to the wide range of tissues/systems affected by mutations in the CHD7 gene. In this review, we discuss the diagnosis, clinical features and management of CHARGE syndrome. [ABSTRACT FROM AUTHOR]

A letter to the editor commenting on a case study highlighting an additional possibility of congenital insensitivity to pain (CIP) being responsible for unexplained injuries, is presented.