false
zh-CN,zh-TW,en,fr,de,ja,ko,pt,es,th,vi
Catalog
Curating the Clinical Genome 2024 ePoster Gallery
Somatic Genomic Testing and Variant Curation Pract ...
Somatic Genomic Testing and Variant Curation Practices in Australian and New Zealand Diagnostic Testing Labs
Back to course
Pdf Summary
The document discusses the results of a survey on somatic variant curation practices in Australian and New Zealand diagnostic testing laboratories. It reveals that most labs have manual pipelines for somatic variant curation and follow guidelines like ClinGen/CGC/VICC and AMP/ASCO/CAP. However, less than half report biomarkers like TMB and MSI, with some not including therapy matching in their reports. Only one lab contributes interpretations to knowledge bases due to time and resource constraints. The survey aims to inform the development of the Shariant platform and gain insights into the somatic Australasian landscape.<br /><br />The study shows that somatic NGS is mainly done using multi-gene panels, with few labs detecting all types of variant. Most surveyed labs focus on cancer services, while some work on non-cancer conditions. The document also emphasizes the need for standardization and evidence sharing among laboratories to improve somatic genomic implementation and reporting standards, particularly in oncology. The Shariant platform, supported by Australian Genomics, facilitates sharing of curated variant evidence across labs in the region.<br /><br />Future work may explore the relationship between panel size, testing scope, and reporting of biomarkers. The survey identifies barriers and areas for improvement in somatic variant curation, aiming to ensure equitable access to precision medicine and enhance patient care. The findings may inform national and international policies for somatic genomic implementation. Collaborations with various stakeholders have been crucial in shaping the Shariant platform and advancing somatic variant interpretation practices.
Keywords
somatic variant curation
Australian and New Zealand
diagnostic testing laboratories
manual pipelines
ClinGen/CGC/VICC guidelines
AMP/ASCO/CAP guidelines
TMB and MSI biomarkers
therapy matching
Shariant platform
somatic NGS
© 2025 American College of Medical Genetics and Genomics. All rights reserved.
×