Design and evaluation of a visual genomic explainer: a mixed-methods study.

Objective: To design and assess a visual genomic explainer focusing on plain language and engaging imagery. The explainer aimed to support doctors' comprehension of complex genomic concepts and results and act as a resource promoting the integration of genomic testing into mainstream care.

Design: Prospective genomic resource development and questionnaire.

Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023.

The KidGen Collaborative's Policy Implementation Workshop 2023 celebrated the 10th anniversary of Australia's first kidney genetics clinic in Brisbane. This event marked the establishment of a national network now comprising 19 kidney genetics clinics across Australia, all dedicated to providing equitable access to genomic testing for families affected by genetic kidney diseases. The workshop reflected on past progress and outlined future objectives for kidney genetics in Australia, recognising the collaborative efforts of clinical teams, researchers, and patients.

All you Need is Trust? Public Perspectives on Consenting to Participate in Genomic Research in the Sri Lankan District of Colombo.

Engagement with genomic medicine and research has increased globally during the past few decades, including rapid developments in Sri Lanka. Genomic research is carried out in Sri Lanka on a variety of scales and with different aims and perspectives. However, there are concerns about participants' understanding of genomic research, including the validity of informed consent.

Genomic testing for suspected monogenic kidney disease in children and adults: A health economic evaluation.

Purpose: To assess the relative cost-effectiveness of genomic testing compared with standard non-genomic diagnostic investigations in patients with suspected monogenic kidney disease from an Australian health care system perspective.

Methods: Diagnostic and clinical information was used from a national cohort of 349 participants. Simulation modelling captured diagnostic, health, and economic outcomes during a time horizon from clinical presentation until 3 months post-test results based on the outcome of cost per additional diagnosis and lifetime horizon based on cost per quality-adjusted life-year (QALY) gained.

Clinical and diagnostic utility of genomic sequencing for children referred to a Kidney Genomics Clinic with microscopic haematuria.

Background: Microscopic haematuria in children is associated with the risk of progression to chronic kidney disease. Genetic disease is an important potential aetiology. Genomic sequencing presents the most effective diagnostic route for these conditions, but access remains inequitable internationally.

Survival and Chemosensitivity in Advanced High Grade Serous Epithelial Ovarian Cancer Patients with and without a BRCA Germline Mutation: More Evidence for Shifting the Paradigm towards Complete Surgical Cytoreduction.

Background and Objectives: Approximately 10−15% of high-grade serous ovarian cancer (HGSOC) cases are related to BRCA germline mutations. Better survival rates and increased chemosensitivity are reported in patients with a BRCA 1/2 germline mutation. However, the FIGO stage and histopathological entity may have been confounding factors.

Theory Designed Strategies to Support Implementation of Genomics in Nephrology.

(1) Background: Genomic testing is increasingly utilized as a clinical tool; however, its integration into nephrology remains limited. The purpose of this study was to identify barriers and prioritize interventions for the widespread implementation of genomics in nephrology. (2) Methods: Qualitative, semi-structured interviews were conducted with 25 Australian adult nephrologists to determine their perspectives on interventions and models of care to support implementation of genomics in nephrology.

An Unusual Presentation of COVID-19 Associated Multisystem Inflammatory Syndrome in Adults (MIS-A) in a Pregnant Woman.

Based on available literature, pregnant women are at an increased risk of severe illness from severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, compared to nonpregnant women. Consequences of coronavirus disease 2019 (COVID-19) in pregnancy have many implications in women's lives other than unfavorable obstetric outcomes. In addition to managing acute respiratory illness and symptoms, caregivers should be equipped to detect and manage the short-term, intermediate, and long-term consequences of SARS-CoV-2 infection as well.

Bio-Politics and Calculative Technologies in COVID-19 Governance: Reflections From England.

Background: Through the extensive use of public media, the government of England was heavily involved in encouraging and instructing people on how to manage their life during coronavirus disease 2019 (COVID-19). This model of health emergency governance replicates the practice of 'calculative technologies' and 'bio-politics' embedded in population management. Previous research on COVID-19 governance both in the United Kingdom and beyond provides varied revelations on broader 'technologies of government' and bio-politics by numerous governments.

Cost-Effectiveness of Targeted Exome Analysis as a Diagnostic Test in Glomerular Diseases.

Background: Despite the emergence of diagnostic and clinical utility evidence in nephrology, publicly funded access to genomic testing is restricted in most health care systems. To establish genomic sequencing as a clinical test, an evaluation of cost-effectiveness is urgently required.

Methods: An economic evaluation, informed by a primary clinical study and available clinical evidence and guidelines in nephrology, was performed to evaluate the cost-effectiveness and optimal timing of exome sequencing (ES) in adults and children with suspected monogenic glomerular diseases compared with nongenomic investigations (NGIs).

Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics.

Introduction: Genomic testing is becoming widely available as a diagnostic tool, although widespread implementation is not yet established in nephrology.

Methods: An anonymous electronic survey was administered to investigate experience and confidence with genomic tests, perceived clinical utility of genomic services, preferences for service delivery models, and readiness for implementation among nephrologists. Questions were guided by a comprehensive literature review and published tools, including a validated theoretical framework for implementation of genomic medicine: Consolidated Framework for Implementation Research (CFIR).

Clinical impact of genomic testing in patients with suspected monogenic kidney disease.

Purpose: To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney disease.

Methods: We performed clinically accredited singleton ES in a prospectively ascertained cohort of 204 patients assessed in multidisciplinary renal genetics clinics at four tertiary hospitals in Melbourne, Australia.

Results: ES identified a molecular diagnosis in 80 (39%) patients, encompassing 35 distinct genetic disorders.

Household Transmission of Carbapenemase-producing Enterobacterales in Ontario, Canada.

Background: Data on household transmission of carbapenemase-producing Enterobacterales (CPE) remain limited. We studied risk of CPE household co-colonization and transmission in Ontario, Canada.

Methods: We enrolled CPE index cases (identified via population-based surveillance from January 2015 to October 2018) and their household contacts.

Isolated proteinuria due to CUBN homozygous mutation - challenging the investigative paradigm.

Background: Proteinuria is a common clinical presentation, the diagnostic workup for which involves many non-invasive and invasive investigations. We report on two siblings that highlight the clinically relevant functional role of cubulin for albumin resorption in the proximal tubule and supports the use of genomic sequencing early in the diagnostic work up of patients who present with proteinuria.

Case Presentation: An 8-year-old boy was referred with an incidental finding of proteinuria.

Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol.

Introduction: Recent advances in genomic technology have allowed better delineation of renal conditions, the identification of new kidney disease genes and subsequent targets for therapy. To date, however, the utility of genomic testing in a clinically ascertained, prospectively recruited kidney disease cohort remains unknown. The aim of this study is to explore the clinical utility and cost-effectiveness of genomic testing within a national cohort of patients with suspected genetic kidney disease who attend multidisciplinary renal genetics clinics.

Long-term risk of adverse outcomes after acute kidney injury: a systematic review and meta-analysis of cohort studies using consensus definitions of exposure.

Reliable estimates of the long-term outcomes of acute kidney injury (AKI) are needed to inform clinical practice and guide allocation of health care resources. This systematic review and meta-analysis aimed to quantify the association between AKI and chronic kidney disease (CKD), end-stage kidney disease (ESKD), and death. Systematic searches were performed through EMBASE, MEDLINE, and grey literature sources to identify cohort studies in hospitalized adults that used standardized definitions for AKI, included a non-exposed comparator, and followed patients for at least 1 year.

Renal genetics in Australia: Kidney medicine in the genomic age.

There have been few new therapies for patients with chronic kidney disease in the last decade. However, the management of patients affected by genetic kidney disease is rapidly evolving. Inherited or genetic kidney disease affects around 10% of adults with end-stage kidney disease and up to 70% of children with early onset kidney disease.