Amanda Spurdle
Professor | Group Leader
+617 3362 0371amanda.spurdle@qimrberghofer.edu.au
CAREER HISTORY
Professor Spurdle has been continuously involved in scientific research since 1987. She was employed as a medical scientist at the South African Institute for Medical Research, Johannesburg, South Africa. Her roles included genetic analysis for the purpose of prenatal diagnosis, undergraduate and postgraduate teaching and independent research. Her topics of research included XX true hermaphroditism and other sex anomalies, Oudtshoorn skin disease linkage analysis and Y chromosome population and evolutionary genetics. The latter was the focus of her PhD, conducted part-time in parallel to other responsibilities.
In 1994 she took up an NHMRC-funded position as research officer at La Trobe University, Melbourne to work on the comparative genetics of the human and marsupial Y chromosome. She moved to the Queensland Institute of Medical Research in 1997 to take up a post-doctoral position studying the role of low-risk genetic factors in predisposition to breast and ovarian cancer. In 2004, supported by an NHMRC Career Development award, she set up her own laboratory at the Institute and expanded her research to include molecular studies of high-risk genetic factors, in study of additional cancer types.
CURRENT APPOINTMENTS
2020-current: NHMRC Investigator Fellow, QIMR Berghofer
2001-current: Conjoint Lecturer, promoted to Adjunct Professor 2011, School of Medicine, Faculty of Health Sciences, University of Queensland
2011-current: Adjunct Associate Professor, promoted to Adjunct Professor 2017, Cell & Molecular Biosciences Discipline, Faculty of Science &Technology, Queensland University of Technology
PREVIOUS APPOINTMENTS
2009-2019: NHMRC Senior Research Fellow, QIMR Berghofer (reappointed SRFB from 2014)
2008: QIMR Fellowship, Queensland Institute of Medical Research
2003-2007: NHMRC R Douglas Wright Fellowship, Queensland Institute of Medical Research
2000-2002: Senior Research Officer, Cancer and Cell Biology Division, Queensland Institute of Medical Research
1997-1999: Research Officer, Queensland Institute for Medical Research
1994-1997: Research Officer, Department of Genetics, La Trobe University
1987-1994: Medical Scientist, Human Genetics Department, South African Institute of Medical Research
ORCID NUMBER
RESEARCHER ID
A-4978-2011
CURRENT AREA OF RESEARCH
Professor Spurdle’s main focus of research is in the field of molecular epidemiology of cancer and encompasses studies of breast, endometrial, ovarian and other cancers implicated in hereditary cancer syndromes. A major research effort is development and application of methods to determine the clinical importance of variants in high-risk cancer susceptibility genes, including the BRCA1, BRCA2 and TP53. She co-founded and now leads the ENIGMA international consortium to develop and apply methods to evaluate variants in breast/ovarian cancer susceptibility genes. She is active in multiple ClinGen Variant Curation Expert Panels focussed on hereditary cancer genes. She participates in the Australian Genomics Health Alliance, with her research focus primarily around promoting sharing of information to facilitate and harmonise clinical classification of variants. She also contributes in an advisory role to endometrial cancer genome-wide association and functional follow-up studies led by post-doctoral fellows in her laboratory.
RESEARCH HIGHLIGHTS
- ‘Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA’ report. This review and position piece describes the recognition of inconsistencies in vocabulary usage by members of the ENIGMA international multidisciplinary consortium focused on variant classification in breast-ovarian cancer susceptibility genes, and the potential implications for clinical use of genetic information. It also suggests a framework for a common vocabulary that may facilitate understanding and clarity in clinical reporting of germline genetic tests for cancer susceptibility
- ‘Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification’. This study represents the largest ever implementation of the multifactorial likelihood statistical analysis method to classify 734 BRCA1 and BRCA2 variants. In addition, classifications were compared with information not yet included in the likelihood model, and evidence strengths aligned to those recommended for ACMG/AMP classification codes to facilitate qualitative classification approaches
- BRCA Challenge: ‘BRCA Exchange as a global resource for variants in BRCA1 and BRCA2’. Provided expertise to apply and develop technological solutions for classification of variants in this largest public aggregation of BRCA1/2 variants. Also reports first development phase of a mobile phone app that allows individuals to track altered variant classification
- ‘Improved ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants’. This work led to the selection of a high-performance combination of bioinformatics tools to be used as standard strategy for p53 missense variant prediction of pathogenicity within the ACMG/AMP guidelines
PROFESSIONAL MEMBERSHIPS
2020-present
- ClinGen (Curating the Clinical Genome) Sequence Variant Interpretation Splicing Subgroup
2019-present
- ClinGen (Curating the Clinical Genome) Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel
- Variant Interpretation Advisory Group, TRACEBACK research project
2017-present
- International Society for Gastrointestinal Hereditary Tumours (InSiGHT) STK11 Gene Variant Interpretation Committee
2016-present
- ClinGen (Curating the Clinical Genome) TP53 variant curation expert panel
- ClinGen (Curating the Clinical Genome) CDH1 variant curation expert panel
2015-present
- ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles), Head of the expert panel for BRCA1/2 variant classification
2017-present
- Global Alliance for Genomics & Health (GA4GH), Steering Committee member
- Australian Genomic Health Alliance, Program 2 Working Group member, Variant Re-classification project
2016-present
- Australian Genomic Health Alliance, Program 2 Working Group member and Leader of Project 1, Variant Curation and Sharing
2014-present
- GA4GH BRCA Challenge project – Steering Committee member
- BRCA Challenge Project, Evidence Gathering Group, member
2009-present
- International Society for Gastrointestinal Hereditary Tumours (InSiGHT) MMR Gene Variant Interpretation Committee
- The Breast Cancer Tissue Bank Scientific Review Board
- ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles), Steering Committee, Founder, Chair since 2015
2003-present
- Kathleen Cuningham Foundation Consortium for research into Familial Breast cancer, Executive Committee
- Kathleen Cuningham Foundation Consortium for research into Familial Breast cancer, Mutation Review Committee, chair
AWARDS RECOGNITION
2020: NHMRC Investigator Fellowship (Level 1, APP1177524)
EDUCATIONAL BACKGROUND
1992: PhD (Human Population Genetics), University of Witwatersrand, South Africa
1986: M Sc (Biotechnology), University of Witwatersrand, South Africa
1985: B Sc Hons (Botany), University of Witwatersrand, South Africa
1984: B Sc (Biological Sciences), University of Witwatersrand, South Africa