Australian Genomics

Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability

B Lundie, SY Chai, AB Byrne, D Azmanov, J Christodoulou, MA Haas, KS Kassahn, S Lunke, A Stott, BA Thompson, T Badrick, B Bennetts

2026-03-01

Few external quality assurance programs adequately address the complexity of largescale human genome or exome analysis. To bridge ..

Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses

Y Chang, EM Rath, M Soka, ES Singer, G Trivedi, C Burns, R Austin, T Boughtwood, JS Brown, S Casauria, B Chong, J Cvetkovska, SL Dunwoodie, S Lunke, T Mattiske, J McGaughran, SJ Pantaleo, MCJ Quinn, C Semsarian, I Macciocca

2026-01-01

Purpose The Australian Genomics Cardiovascular Disorders Flagship investigated genome sequencing as a first-line genetic test in 6..

Eliciting parental preferences and values for the return of additional findings from genomic sequencing

Ilias Goranitis, Yan Meng, Melissa Martyn, Stephanie Best, Sophie Bouffler, Yvonne Bombard, Clara Gaff, Zornitza Stark

2024-02-14

Health economic evidence is needed to inform the design of high-value and cost-effective processes for returning genomic results f..

Evaluation of CTRL: a web application for dynamic consent and engagement with individuals involved in a cardiovascular genetic disorders cohort

MA Haas, EO Madelli, R Brown, M Prictor, T Boughtwood

2024-01-01

There has been keen interest in whether dynamic consent should be used in health research but few real-world studies have evaluate..

The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study

Aimee L Davidson, Uwe Dressel, Sarah Norris, Daffodil M Canson, Dylan M Glubb, Cristina Fortuno, Georgina E Hollway, Michael T Parsons, Miranda E Vidgen, Oliver Holmes, Lambros T Koufariotis, Vanessa Lakis, Conrad Leonard, Scott Wood, Qinying Xu, Amy E McCart Reed, Hilda A Pickett, Mohammad K Al-Shinnag, Rachel L Austin, Jo Burke

2023-09-19

Background: Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters..