Improving Access and Equity to Blood Cancer Genomic Diagnostics and Treatment in the Northern Territory - GNT2000001

Consultation informs strategies for improving the use of functional evidence in variant classification

RM Villani, B Terrill, E Tudini, ME McKenzie, CC Cliffe, CN Hahn, B Lundie, T Mattiske, E Matotek, AE McEwen, SL Nickerson, J Breen, DM Fowler, J Christodoulou, L Starita, AF Rubin, AB Spurdle

2025-06-05

When investigating whether a variant identified by diagnostic genetic testing is causal for disease, applied genetics professional..

Assessing the unmet needs of genomic testing in Australia: a geospatial exploration

S Casauria, F Collins, SM White, P Konings, M Wallis, N Pachter, J McGaughran, C Barnett, S Best

2025-04-01

The role of genomic testing in rare disease clinical management is growing. However, geographical and socioeconomic factors contri..

A Standardized Measurement and Valuation Scale of Genomic Utility for Policy Decisions: The GUV Scale

I Goranitis, D Sheen, Z Fehlberg, AJ Mallett, S Best, Z Stark

2025-02-01

Objectives: The multifaceted ways in which genomics can be valuable to clinicians, patients, families, and society are important f..

Embedding Specialised Educators in Modalities for Continuing Medical Education. A Study of Effectiveness, and Health Care Practitioner and Educator Preferences

Z Fehlberg, J Long, A Kanga-Parabia, A Archibald, J Braithwaite, S Best

2025-02-01

Introduction: As the delivery of continuing medical education moves towards digital modes, determining how to embed and capitalise..

Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing

M Ball, SE Bouffler, CB Barnett, ML Freckmann, MF Hunter, B Kamien, KS Kassahn, S Lunke, CV Patel, J Pinner, T Roscioli, SA Sandaradura, HS Scott, TY Tan, M Wallis, AG Compton, DR Thorburn, Z Stark, J Christodoulou

2025-01-01

Purpose: To characterize the diagnostic and clinical outcomes of a cohort of critically ill infants and children with suspected mi..

Nationwide, Couple-Based Genetic Carrier Screening

EP Kirk, MB Delatycki, AD Archibald, E Tutty, J Caruana, JL Halliday, S Lewis, BJ McClaren, AJ Newson, L Dive, S Best, JC Long, J Braithwaite, MJ Downes, PA Scuffham, J Massie, K Barlow-Stewart, A Kulkarni, A Ruscigno, A Kanga-Parabia

2024-11-21

Genomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in..

Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services

S Best, Z Fehlberg, C Richards, MCJ Quinn, S Lunke, AB Spurdle, KS Kassahn, C Patel, DF Vears, I Goranitis, F Lynch, A Robertson, E Tudini, J Christodoulou, H Scott, J McGaughran, Z Stark

2024-11-01

Reanalyzing stored genomic data over time is highly effective in increasing diagnostic yield in rare disease. Automation holds the..

An Investigation of Barriers and Enablers for Genetics in Speech-Language Pathology Explored Through a Case Study of Childhood Apraxia of Speech

ML Lauretta, A Jarmolowicz, DJ Amor, S Best, AT Morgana

2024-09-01

Purpose: Advancements in genetic testing and analysis have allowed improved identification of the genetic basis of childhood aprax..

Determining priority indicators of utility for genomic testing in rare disease: A Delphi study

Zoe Fehlberg, Ilias Goranitis, Andrew J Mallett, Zornitz Stark, Stephanie Best

2024-06-01

Purpose: Determining the value of genomic tests in rare disease necessitates a broader conceptualization of genomic utility beyond..

Evaluation of Endobronchial Ultrasound-Guided Transbronchial Needle Aspiration (EBUS-TBNA) Samples from Advanced Non-Small Cell Lung Cancer for Whole Genome, Whole Exome and Comprehensive Panel Sequencing

D Fielding, V Lakis, AJ Dalley, H Chittoory, F Newell, LT Koufariotis, AM Patch, S Kazakoff, F Bashirzadeh, JH Son, K Ryan, D Steinfort, JP Williamson, M Bint, C Pahoff, PT Nguyen, S Twaddell, D Arnold, C Grainge, A Pattison

2024-02-01

Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is often the only source of tumor tissue from patient..

Direct notification by health professionals of relatives at-risk of genetic conditions (with patient consent): views of the Australian public

JM Tiller, A Stott, K Finlay, T Boughtwood, EO Madelli, A Horton, I Winship, K Nowak, M Otlowski

2024-01-01

Genetic risk information for medically actionable conditions has relevance for patients’ blood relatives. However, cascade testing..

Genomic Testing in Patients with Kidney Failure of an Unknown Cause: a National Australian Study

Amali C Mallawaarachchi, Lindsay Fowles, Louise Wardrop, Alasdair Wood, Rosie O’Shea, Erik Biros, Trudie Harris, Stephen I Alexander, Simon Bodek, Neil Boudville, Jo Burke, Leslie Burnett, Sarah Casauria, Steve Chadban, Aron Chakera, Sam Crafter, Pei Dai, Paul De Fazio, Randall Faull, Andrew Honda

2024-01-01

Background The cause of kidney failure is unknown in approximately 10% of patients with stage 5 chronic kidney disease (CKD). For ..

Rapid genomic testing in critically ill pediatric patients: Genetic counseling lessons from a national program

K Boggs, F Lynch, M Ward, SE Bouffler, S Ayres, R Forbes, A Springer, MG de Silva, E Lynch, L Gallacher, T Davis, A Rakonjac, K Stallard, GR Brett, Z Stark

2024-01-01

Genetic counselors (GCs) face unique challenges in the acute care setting. Acute care environments—such as neonatal and pediatric ..

What's in a name? Justifying terminology for genomic findings beyond the initial test indication: A scoping review

S White, M Haas, KJ Laginha, K Laurendet, C Gaff, D Vears, AJ Newson

2023-11-01

Genome sequencing can generate findings beyond the initial test indication that may be relevant to a patient or research participa..

Integrated multi-omics for rapid rare disease diagnosis on a national scale

S Lunke, SE Bouffler, CV Patel, SA Sandaradura, M Wilson, J Pinner, MF Hunter, CP Barnett, M Wallis, B Kamien, TY Tan, ML Freckmann, B Chong, D Phelan, D Francis, KS Kassahn, T Ha, S Gao, P Arts, MR Jackson

2023-07-01

Critically ill infants and children with rare diseases need equitable access to rapid and accurate diagnosis to direct clinical ma..

Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol.

Sophie E Bouffler, Ling Lee, Fiona Lynch, Melissa Martyn, Elly Lynch, Ivan Macciocca, Lisette Curnow, Giulia McCorkell, Sebastian Lunke, Belinda Chong, Justine E Marum, Martin Delatycki, Lilian Downie, Ilias Goranitis, Danya F Vears, Stephanie Best, Marc Clausen, Yvonne Bombard, Zornitza Stark, Clara L Gaff

2023-06-02

INTRODUCTION: As routine genomic testing expands, so too does the opportunity to look for additional health information unrelated ..

Co-designing interventions to ‘live well’: experiences and perceptions of the Genetic, Undiagnosed and Rare Disease (GUaRD) community

I Beadell, M Byun, H Feller, M Ferrie, S Best

2023-06-01

The Genetic, Undiagnosed and Rare Disease community faces a range of hurdles to live their ‘best life’ including physical, social ..

Standardizing variation: Scaling up clinical genomics in Australia

S Best, JC Long, J Braithwaite, N Taylor

2023-02-01

Purpose: Clinical genomics demands close interaction of physicians, laboratory scientists, and genetic professionals. Taking genom..

How does the genomic naive public perceive whole genomic testing for health purposes? A scoping review

IA Sherburn, K Finlay, S Best

2023-01-01

The benefits of genomic testing are primarily reported in rare disease, cancer diagnosis and disease management. However, as resea..

Co-design, implementation, and evaluation of plain language genomic test reports

GR Brett, A Ward, SE Bouffler, EE Palmer, K Boggs, F Lynch, A Springer, A Nisselle, Z Stark

2022-12-01

Understanding and communicating genomic results can be challenging for families and health professionals without genetic specialty..

The role of exome sequencing in childhood interstitial or diffuse lung disease

SEL Temple, G Ho, B Bennetts, K Boggs, N Vidic, D Mowat, J Christodoulou, A Schultz, T Gayagay, T Roscioli, Y Zhu, S Lunke, D Armstrong, J Harrison, N Kapur, T McDonald, H Selvadurai, A Tai, Z Stark, A Jaffe

2022-12-01

Background: Children’s interstitial and diffuse lung disease (chILD) is a complex heterogeneous group of lung disorders. Gene pane..

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

E Tudini, J Andrews, DM Lawrence, SL King-Smith, N Baker, L Baxter, J Beilby, B Bennetts, V Beshay, M Black, TF Boughtwood, K Brion, PL Cheong, M Christie, J Christodoulou, B Chong, K Cox, MR Davis, L Dejong, ME Dinger

2022-11-03

Sharing genomic variant interpretations across laboratories promotes consistency in variant assertions. A landscape analysis of Au..

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation

AD Archibald, BJ McClaren, J Caruana, E Tutty, EA King, JL Halliday, S Best, A Kanga-Parabia, BH Bennetts, CC Cliffe, EO Madelli, G Ho, J Liebelt, JC Long, J Braithwaite, J Kennedy, J Massie, JD Emery, J McGaughran, JE Marum

2022-11-01

Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosoma..

Comparison of actionable events detected in cancer genomes by whole-genome sequencing, in silico whole-exome and mutation panels

P Ramarao-Milne, O Kondrashova, AM Patch, K Nones, LT Koufariotis, F Newell, V Addala, V Lakis, O Holmes, C Leonard, S Wood, Q Xu, P Mukhopadhyay, MM Naeini, D Steinfort, JP Williamson, M Bint, C Pahoff, PT Nguyen, S Twaddell

2022-08-01

Background: Next-generation sequencing is used in cancer research to identify somatic and germline mutations, which can predict se..

Genomic testing for children with interstitial and diffuse lung disease (chILD): Parent satisfaction, understanding and health-related quality of life

L Kelada, C Wakefield, N Vidic, DS Armstrong, B Bennetts, K Boggs, J Christodoulou, J Harrison, G Ho, N Kapur, S Lindsey-Temple, T McDonald, D Mowat, A Schultz, H Selvadurai, A Tai, A Jaffe

2022-02-21

Objective Research is needed to determine best practice for genomic testing in the context of child interstitial or diffuse lung d..

GA4GH: International policies and standards for data sharing across genomic research and healthcare

HL Rehm, AJH Page, L Smith, JB Adams, G Alterovitz, LJ Babb, MP Barkley, M Baudis, MJS Beauvais, T Beck, JS Beckmann, S Beltran, D Bernick, A Bernier, JK Bonfield, TF Boughtwood, G Bourque, SR Bowers, AJ Brookes, M Brudno

2021-11-10

The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of ..