A5044558599- BRCA gene mutations in cancer
- Genomics and Rare Diseases
- Genetic factors in colorectal cancer
- Ethics in Clinical Research
- Cancer Genomics and Diagnostics
- Prenatal Screening and Diagnostics
- Health Systems, Economic Evaluations, Quality of Life
- Genomic variations and chromosomal abnormalities
- Family Support in Illness
- Nutrition, Genetics, and Disease
- Health Policy Implementation Science
- Childhood Cancer Survivors' Quality of Life
- Colorectal Cancer Screening and Detection
- Global Cancer Incidence and Screening
- Patient-Provider Communication in Healthcare
- Ethics and Legal Issues in Pediatric Healthcare
- Genetics, Bioinformatics, and Biomedical Research
- DNA Repair Mechanisms
- Genetic Associations and Epidemiology
- Health Sciences Research and Education
- Biomedical Ethics and Regulation
- Cystic Fibrosis Research Advances
- Evaluation and Performance Assessment
- Innovations in Medical Education
- Health and Medical Research Impacts
Melbourne Genomics Health Alliance
2016-2025
Murdoch Children's Research Institute
2014-2025
The University of Melbourne
2016-2025
Walter and Eliza Hall Institute of Medical Research
2015-2025
Royal Children's Hospital
2004-2024
The Royal Melbourne Hospital
2003-2023
University of Wisconsin–Madison
2023
Peter MacCallum Cancer Centre
2021
Sax Institute
2019
Victorian Clinical Genetics Services
2002-2015
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.
The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical genomic data through both harmonized aggregation federated approaches. decreasing cost sequencing (along with other genome-wide molecular assays) increasing evidence its utility will soon drive generation sequence from tens millions humans, levels diversity. In this perspective, we present GA4GH strategies addressing major challenges revolution. We...
Recent dramatic reductions in the timeframe which genomic sequencing can deliver results means its application time-sensitive screening programs such as newborn (NBS) is becoming a reality. As NBS (gNBS) are developed around world, there an increasing need to address ethical and social issues that initiatives raise. This study therefore aimed explore Australian public's perspectives values regarding key gNBS characteristics preferences for service delivery. We recruited English-speaking...
To systematically investigate the longer-term clinical and health economic impacts of genomic sequencing for rare-disease diagnoses.We collected information on continuing diagnostic investigation, changes in management, cascade testing, parental reproductive outcomes 80 infants who underwent singleton whole-exome (WES).The median duration follow-up following result disclosure was 473 days. Changes management due to WES results led a cost saving AU$1,578 per quality-adjusted life year gained,...
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,...
To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney disease.We performed clinically accredited singleton ES a prospectively ascertained cohort 204 assessed multidisciplinary renal genetics clinics at four tertiary hospitals Melbourne, Australia.ES identified molecular diagnosis 80 (39%) patients, encompassing 35 distinct genetic disorders. Younger age presentation was independently associated an (p < 0.001). Of those...
With the demand for genomic investigations increasing, medical specialists will need to, and are beginning practice medicine. The from diverse specialties to be ready appropriately medicine is widely recognised, but existing studies focus on single or clinical settings. We explored continuing education needs in of a wide range (excluding genetic specialists) across Australia. Interviews were conducted with 86 Australia specialties. Inductive content analysis categorized participants by...
Introduction Newborn bloodspot screening (NBS) is a highly successful public health programme that uses biochemical and other assays to screen for severe but treatable childhood-onset conditions. Introducing genomic sequencing into NBS programmes increases the range of detectable conditions raises practical ethical issues. Evidence from prospectively ascertained cohorts required guide policy future implementation. This study aims develop, implement evaluate (gNBS) pilot programme. Methods...
This longitudinal study aimed to document (i) the information-giving and patient-communication styles of clinical geneticists genetic counsellors (consultants) in familial breast cancer clinics (ii) assess effect these on women's knowledge, whether their expectations were met, satisfaction, risk perception psychological status. A total 158 women from high-risk families completed self-report questionnaires at 2 weeks preconsultation 4 postconsultation. The consultations audiotaped,...
Abstract The responsibility of informing relatives that predictive genetic testing is available often falls to the proband. Support required during this process, however perceived utility counseling and other strategies facilitate communication have not been explored. We investigated experiences 12 individuals with hereditary nonpolyposis colorectal cancer (HNPCC) in a semistructured telephone interview. Respondents informed their immediate family about availability testing, many...
Genomic testing has reached the point where, technically at least, it can be cheaper to undertake panel-, exome- or whole genome than is sequence a single gene. An attribute of these approaches that information gleaned will often have uncertain significance. In addition challenges this presents for pre-test counseling and informed consent, further consideration emerges over how - ethically we should conceive respond uncertainty. To date, ethical aspects uncertainty in genomics remained...