Po Yee Mia Leung

Key Points: We evaluated a hub and spoke mainstreaming model to enable nephrologists to order genomic tests independently in their clinic across the state of Victoria. Over 1000 tests were ordered, with the diagnostic yield remaining similar regardless of ordered by local nephrologists or tertiary genomics services. A mainstreaming model proved feasible, scalable, and clinically effective, offering a practical framework for integrating genomics to routine kidney care. Background: Genomic testing has substantial diagnostic and clinical value in nephrology, yet integrating testing into routine care requires service-level changes to ensure timely and equitable access. Methods: We conducted an observational cohort study at four tertiary centers, with a pragmatic, quasi-experimental design to evaluate evidence-informed, service-level interventions to make genomic testing more accessible and routinely embedded within nephrology practice. We implemented a hub and spoke model which provided nephrologists with training, practical resources, and regular case-based discussions, to support test ordering and interpretation within their own clinics. Laboratory audits (June 2021–July 2024) evaluated how public reimbursement and implementation interventions influenced testing patterns. Three periods were compared: prefunding, postfunding, and postintervention. Results: Across the study period, 1028 genomic tests were ordered (63% adults, 37% children; median age 32 years). Results were available for 1014 tests, with an overall diagnostic yield of 34%, which remained stable across all time points. The diagnostic yield was similar regardless of whether testing occurred at tertiary genomics services (249 of 772, 32%) or via local nephrologists (92 of 242, 38%). The number of unique providers ordering tests was higher (T1: 37, T2: 69, T3: 87). The proportion of testing in mainstream nephrology settings rose from 23% to 74%, while absolute testing numbers in multidisciplinary clinics remained consistent over the study period. Conclusion: Mainstreaming genomic testing in nephrology was feasible, scalable, and clinically effective. This model was associated with better access without compromising diagnostic yield and provides a practical framework for integrating genomic medicine into routine kidney care.

The development of antiviral‐resistant cytomegalovirus (CMV) infection complicates the management of transplant recipients. We describe the case of a 65‐year‐old male who developed CMV disease on valganciclovir prophylaxis (donor CMV IgG positive, recipient CMV IgG indeterminate) 30 days after combined liver–kidney transplantation for alcoholic cirrhosis and hepato‐renal syndrome. After an initial complete response to treatment dose oral valganciclovir, he developed recurrent CMV viraemia. Resistance testing revealed a UL97 mutation with in‐frame deletions of codons 595‐596. He was treated successfully with foscarnet and reduction in immunosuppression. This mutation has not been described previously and was suspected to confer ganciclovir resistance. Ganciclovir resistance occurs most commonly due to mutations in the UL97 or UL54 genes, which encode a protein kinase and a DNA polymerase, respectively. The UL97‐encoded protein kinase phosphorylates ganciclovir to ganciclovir triphosphate, which competitively inhibits viral replication. Mutations in the UL97 gene are typically point mutations or deletions. We describe a new mutation, del595‐596 in the CMV UL97 gene, occurring in the context of clinical treatment failure with standard and double‐dose ganciclovir, and successful virological control achieved with foscarnet. This mutation is likely to result in ganciclovir resistance, although recombinant phenotyping is required for confirmation.

Background In paediatric resuscitation, for a rapid and accurate estimate of children's weight, the Broselow tape can be used in children who are 46–144 cm tall. The Broselow tape has previously been found to provide the most accurate estimate of children's weight internationally, but it is not known how many fall outside the range of the tape, or whether such children can be assumed to be of adult weight, or how otherwise to estimate the weight of these children. Objectives To determine what proportion of children in different age groups falls outside the limits of the Broselow tape, how their weight compares with that of the adults and what correlates most strongly with weight in these children. Methods This was a population-based prospective observational study of Chinese children up to 12 years old, from schools in Hong Kong. Weight was measured to the nearest 0.2 kg, and the height, foot-length and mid-arm circumference (MAC) were measured to the nearest 0.1 cm. Results 40% of 10-year olds and 70% of 11-year olds were too tall for the tape. Their median weight was 41.9 kg. This was significantly less than the median weight of 18-year olds (55 kg, pConclusions The Broselow tape is inappropriate for use in most children over 10 years old. Children too tall for the tape cannot be assumed to be of adult weight; to do so would imply an average overestimate of 30%. Weight estimates in older children could be based on MAC.