- 20 June 2019
1:00 pm - 2:00 pm
Thursday 20 JUNE 2019, 1.00 PM
Auditorium, Level 6, BANCROFT Building
Interpretation and reporting of variation in hereditary cancer genes: updates from inter/national research
Associate Professor Amanda Spurdle,
Molecular Cancer Epidemiology
QIMR Berghofer Medical Research Institute
Identification of a disease-causing mutation in a disease gene directs risk management of carrier individuals, and their relatives – including genetic counselling, pre-symptomatic screening, risk-reducing medication and surgery, choice of cancer therapy. Many sequence changes identified by clinical genetic testing are not obviously disease-causing e.g. missense changes. Such variants are problematic for reporting laboratories, clinicians and patients. This issue is exacerbated by wide-scale uptake of high-throughput panel testing of multiple genes in less selected cases, and introduction of whole exome/genome testing. A related issue is how to best utilise reporting procedures to promote appropriate management of patients identified to carry a pathogenic variant. Large-scale studies by international consortia (ENIGMA, InSiGHT, ClinGen) have been pivotal in developing and setting standards for assessing the clinical importance of genetic variants for risk of cancer and other diseases, and for disseminating such information to facilitate patient clinical management. Within Australia, the Australian Genomic Health Alliance is undertaking a project to establish a national consensus approach to variant classification and provide guidelines and infrastructure by which genetic-testing laboratories may share reportable variant calls.
This talk will present current research results from the Spurdle laboratory on the topic of cancer gene variant classification, and reporting. It will also provide an update on implementation of processes to standardise variant classification in the Australian setting.
Associate Professor Amanda Spurdle is a NHMRC Senior Research Fellow and head of the Molecular Cancer Epidemiology Laboratory at the QIMR Berghofer Medical Research Institute. She began working in the field of molecular epidemiology of cancer at QIMR Berghofer in Brisbane in 2007. Her research currently encompasses studies of multiple cancer types, from the context familial cancer syndromes, and population genetics. Major research efforts include large-scale international collaborative efforts to develop and apply methods to aid clinical classification of sequence variants in high-risk familial cancer genes, and to identify rare and common genetic variants associated with predisposition to and prognosis of endometrial cancer. More recently her research has shifted to actively include implementation research around the topic of genetic variant classification and reporting.