A5003787327- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Cystic Fibrosis Research Advances
- Ethics and Legal Issues in Pediatric Healthcare
- Mitochondrial Function and Pathology
- Health Systems, Economic Evaluations, Quality of Life
- Ethics in Clinical Research
- RNA modifications and cancer
- Neonatal Respiratory Health Research
- Biomedical Ethics and Regulation
- Genomics and Phylogenetic Studies
- Neurological diseases and metabolism
- Organ Donation and Transplantation
- Caveolin-1 and cellular processes
- Neurogenetic and Muscular Disorders Research
- Congenital Heart Disease Studies
- Child and Adolescent Health
- Renal and related cancers
- Autism Spectrum Disorder Research
- Hereditary Neurological Disorders
Victorian Clinical Genetics Services
2017-2024
The University of Melbourne
2019-2024
Murdoch Children's Research Institute
2012-2024
Melbourne Genomics Health Alliance
2016-2020
Royal Children's Hospital
2012-2020
Royal Brisbane and Women's Hospital
2020
Neuroscience Research Australia
2020
South Australia Pathology
2020
UNSW Sydney
2020
Sydney Children’s Hospitals Network
2020
Optimal use of whole-exome sequencing (WES) in the pediatric setting requires an understanding who should be considered for testing and when it performed to maximize clinical utility cost-effectiveness.
<h3>Importance</h3> Widespread adoption of rapid genomic testing in pediatric critical care requires robust clinical and laboratory pathways that provide equitable consistent service across health systems. <h3>Objective</h3> To prospectively evaluate the performance a multicenter network for ultra-rapid diagnosis public system. <h3>Design, Setting, Participants</h3> Descriptive feasibility study critically ill patients with suspected monogenic conditions treated at 12 Australian hospitals...
Critically ill infants and children with rare diseases need equitable access to rapid accurate diagnosis direct clinical management. Over 2 years, the Acute Care Genomics program provided whole-genome sequencing 290 families whose critically were admitted hospitals throughout Australia suspected genetic conditions. The average time result was 2.9 d diagnostic yield 47%. We performed additional bioinformatic analyses transcriptome in all patients who remained undiagnosed. Long-read functional...
The purpose of the study was to implement and prospectively evaluate outcomes a rapid genomic diagnosis program at two pediatric tertiary centers.Rapid singleton whole-exome sequencing (rWES) performed in acutely unwell patients with suspected monogenic disorders. Laboratory clinical barriers implementation were addressed through continuous multidisciplinary review process parameters. Diagnostic utility cost-effectiveness rWES assessed.Of 40 enrolled patients, 21 (52.5%) received diagnosis,...
Abstract As genomic sequencing has become available in pediatric clinical genetics settings, genetic counselors have been called upon to support individuals and families through the testing process. Technological bioinformatic advancements, along with availability of analytical expertise, significantly reduced turnaround times, enabling this powerful diagnostic tool be used neonatal intensive care units (NICUs) place or alongside traditional strategies. It is important that pretest...
Abstract In scaling up an ultra-rapid genomics program, we used implementation science principles to design and investigate influences on identify strategies required for sustainable “real-world” services. Interviews with key professionals revealed the importance of networks relationship building, leadership, culture, relative advantage afforded by in care critically ill children. Although clinical geneticists focused intervention characteristics fit patient-centered care, intensivists...
Abstract Objective To explore the diagnostic utility and cost effectiveness of whole exome sequencing ( WES ) in a cohort individuals with peripheral neuropathy. Methods Singleton was performed recruited though one pediatric adult tertiary center between February 2014 December 2015. Initial analysis restricted to virtual panel 55 genes associated neuropathies. Patients uninformative results underwent expanded data. Data on prior investigations assessments for purposes each patient collected....
Abstract Rapid genomic sequencing (rGS) is being increasingly used in neonatal and paediatric intensive care units. While there emerging evidence of clinical utility cost-effectiveness, concerns have been raised regarding the impact delivering results an acute setting. To help investigate these concerns, we analysed survey data collected from caregivers whose children had received rGS through a national rapid diagnosis program. The on families was assessed PedsQL2.0 Family Impact Module...
Cost-effectiveness evaluations of first-line genomic sequencing (GS) in the diagnosis children with genetic conditions are limited by lack well-defined comparative cohorts. We sought to evaluate cost-effectiveness early GS pediatric patients complex monogenic compared a matched historical cohort.Data, including investigation costs, were collected prospective cohort 92 undergoing singleton over an 18-month period (2016-2017) two following: condition high mortality, multisystem disease...
The diagnosis of Mendelian disorders following uninformative exome and genome sequencing remains a challenging often unmet need. Following family quartet including two siblings with suspected mitochondrial disorder, RNA (RNAseq) was pursued in one sibling. Long-read amplicon used to determine quantify transcript structure. Immunoblotting studies quantitative proteomics were performed demonstrate functional impact. Differential expression analysis RNAseq data identified significantly...
Genetic counselors (GCs) face unique challenges in the acute care setting. Acute environments—such as neonatal and pediatric intensive units—are characterized by urgency, complexity, rapid decision making. These settings require GCs to navigate a delicate balance between addressing immediate clinical needs of patients providing comprehensive genetic information families, while demanding adaptation existing skills for practice.Rapid genomic testing (rGT) is increasingly becoming standard...
Abstract As genomic sequencing becomes more widely available in clinical settings for diagnostic purposes, a number of genetic counseling issues are gaining precedence. The ability to manage these will be paramount as and non‐genetic healthcare professionals navigate the complexities using technologies facilitate diagnosis inform patient management. Counseling arising when were identified by four counselors with 10 years collective experience providing this setting. These discussed refined...
Abstract Despite affecting a small portion of the population, rare conditions have significant impact, collectively around 300 million people worldwide. Historically, early diagnosis has been impeded by failure to recognize and order/refer for appropriate genomic testing. The advancements in genome sequencing offer more agnostic accelerated approach identification disorders, potentially improving health outcomes, reducing impact disability, financial psychological burdens on families. Due...
Abstract Understanding and communicating genomic results can be challenging for families health professionals without genetic specialty training. Unlike modifying existing laboratory reports, plain language test reports provide an opportunity patient/family-centered approaches. However, emerging examples generally lack co-design and/or evaluation in real-world settings. Through involving patient groups, experts, educators, professionals, report templates were produced common outcomes rare...
(Abstracted from JAMA 2020;323(24):2503–2511) Multiple studies have shown that genomic testing has a high diagnostic yield and an impact on clinical management for patients with suspected genetic conditions. Therefore, there been push worldwide to apply rapid sequencing in critically ill neonatal pediatric patients.
The diagnosis of mitochondrial disorders remains a challenging and often unmet need. We sought to investigate sibling pair with suspected disease clinical presentation notable for global developmental delay, poor growth, sensorineural hearing loss, brain MRI abnormalities, both early death. Following uninformative exome genome sequencing the family quartet, RNA was pursued as an orthogonal testing strategy. fibroblasts from older identified presence cryptic exon in intron 1 NDUFB10, that...
Abstract Understanding and communicating genomic results can be challenging for families health professionals without genetic specialty training. Unlike modifying existing laboratory reports, plain language test reports provide opportunity patient/family-centered approaches. However, emerging examples generally lack co-design and/or evaluation in real-world settings. Through involving patient groups, experts, educators, professionals, report templates were produced common outcomes rare...