SESSION 7.1 - The road ahead in genomics and genetic testing
Tracks
Track 1
ii. Translational
| Friday, November 8, 2024 |
| 2:00 PM - 3:30 PM |
| Leighton Hall, John Niland Scientia Building |
Prof Adam Jaffe
UNSW Sydney
Chair
Biography
Adam Jaffe is the John Beveridge Professor and head of Paediatrics and Child Health at UNSW, Sydney, head of the Randwick Clinical Campus and a Respiratory Consultant at Sydney Children’s Hospital Randwick. Jaffe has expertise in rare diseases and chairs the Scientific and Medical Advisory Committee of Rare Voices Australia. He contributed to the writing of the National Strategic Action Plan for Rare Diseases and the National Recommendations for Rare Disease Health Care. Jaffe is also on the Rare Diseases International World Health Assembly resolution taskforce and the International Rare Disease Research Consortium n of 1 taskforce. Jaffe established the molecular and integrative precision medicine centre for cystic fibrosis at UNSW Sydney.
Ms Tiffany Boughtwood
Managing Director
Australian Genomics
The future direction for genomics testing: a global perspective on improving access to genomics knowledge and technology
2:00 PM - 2:15 PMBiography
Tiffany Boughtwood is the Managing Director of Australian Genomics, an Australian Government initiative supporting genomic research and its translation into clinical practice through broad engagement and a collaborative national approach. Tiffany has 25 years’ experience in molecular biology and management: leading academic and diagnostic genomic programs; collaborating internationally in genetic and genomic research; and consulting in health genomic implementation. She served on the World Economic Forum Global Future Council for Biotechnology and the WHO Collective Global Network for Rare Disease, and advised the initiation of the UAE Genomic Program. Tiffany is a member of the WHO Technical Advisory Group on Genomics and is a Director of the Childhood Dementia Initiative.
ORCID https://orcid.org/0000-0002-9634-3731
LinkedIn https://www.linkedin.com/in/tiffany-boughtwood-4a67493a
Dr Elizabeth (Emma) Palmer
Senior Clinical Lecturer
Sydney Children’s Hospitals Network, UNSW Sydney
Genomic testing - what is the roadmap for Australia
2:15 PM - 2:30 PMBiography
Dr (Elizabeth) Emma Palmer is a university lecturer at the University of New South Wales in Sydney, Australia, and Clinical Geneticist at Sydney Children’s Hospitals Network. Dr Palmer is passionate about improving the patient journey for all with rare genetic conditions and their families. Her work aims to improve the recognition of the possibility of genetic conditions by improving clinician education about rare diseases, maximising the diagnostic yield of genetic tests and optimising patient care by linking families to best practice guidelines, treatments and supports. Dr Palmer strives to ensure that the patient and family voice is always central to all her research. She has over 100 peer reviewed journal articles, including those describing nine new genetic conditions.
Prof Adam Jaffe
UNSW Sydney
The State of Rare Diseases in Australia
2:30 PM - 2:45 PMBiography
Adam Jaffe is the John Beveridge Professor and head of Paediatrics and Child Health at UNSW, Sydney, head of the Randwick Clinical Campus and a Respiratory Consultant at Sydney Children’s Hospital Randwick. Jaffe has expertise in rare diseases and chairs the Scientific and Medical Advisory Committee of Rare Voices Australia. He contributed to the writing of the National Strategic Action Plan for Rare Diseases and the National Recommendations for Rare Disease Health Care. Jaffe is also on the Rare Diseases International World Health Assembly resolution taskforce and the International Rare Disease Research Consortium n of 1 taskforce. Jaffe established the molecular and integrative precision medicine centre for cystic fibrosis at UNSW Sydney.
Dr Alan Ma
Clinical Geneticist
The University of Sydney, Sydney Children's Hospitals Network
Conference Abstract Presentation: A collaborative implementation science approach to genomics and precision medicine multidisciplinary teams
2:45 PM - 3:00 PMAbstract
Background: Rapid advances in genomics and precision medicine have led to increased demand for genomics expertise, and access to gene therapies. To address this, the Sydney Health Partners Clinical Academic Group (CAG) in Genomics and Precision Medicine uses implementation science to address the barriers and gaps that patients, clinicians, and health systems face in this field.
A key barrier is how non-genetics health professionals can engage with genetics and genomics expertise to enable genetic diagnosis and management. In our systematic review, a genomic multidisciplinary team (MDT) approach was valuable, however, barriers remain in sustainability and reach.
Aim: The aim of this study was to investigate impact of genomic MDTs at SCHN-Westmead, as an exemplar of this approach, with applications to additional hospitals and subspecialties. These MDT meetings include clinical genetic, laboratory, and subspecialist staff in paediatrics, neurology, oncology and ophthalmology.
Methods: Cases and clinical outcomes across genomic MDTs were recorded. The Reach Effectiveness Adoption Implementation (REAIM) framework was used to study genomic MDTs between 2020-2022. A survey of MDT attendees was designed based on the Theoretical Domains Framework (TDF) to study impacts on behaviour change.
Results: Genomic MDTs at SCHN-Westmead, saw over 1000 cases across 150 MDT meetings in over 8 subspecialties, For the general paediatric genomic MDT, 205 patients across 34 meetings facilitated 124 genomic tests, of which 39% received a genetic diagnosis. There was broad adoption across paediatric departments, including rural clinicians and ‘mainstreaming’ of genomics. Surveys of 33 clinician attendees demonstrated the MDT improved key TDF domains such as knowledge, skills, and beliefs about capabilities, and was a key influence on mainstreaming.
Conclusion: Overall the genomic MDTs facilitated rapid genomic diagnosis, upskilling of healthcare professionals, and improved uptake of genomics. We will continue to explore how to improve uptake, across additional areas of medicine in our CAG.
A key barrier is how non-genetics health professionals can engage with genetics and genomics expertise to enable genetic diagnosis and management. In our systematic review, a genomic multidisciplinary team (MDT) approach was valuable, however, barriers remain in sustainability and reach.
Aim: The aim of this study was to investigate impact of genomic MDTs at SCHN-Westmead, as an exemplar of this approach, with applications to additional hospitals and subspecialties. These MDT meetings include clinical genetic, laboratory, and subspecialist staff in paediatrics, neurology, oncology and ophthalmology.
Methods: Cases and clinical outcomes across genomic MDTs were recorded. The Reach Effectiveness Adoption Implementation (REAIM) framework was used to study genomic MDTs between 2020-2022. A survey of MDT attendees was designed based on the Theoretical Domains Framework (TDF) to study impacts on behaviour change.
Results: Genomic MDTs at SCHN-Westmead, saw over 1000 cases across 150 MDT meetings in over 8 subspecialties, For the general paediatric genomic MDT, 205 patients across 34 meetings facilitated 124 genomic tests, of which 39% received a genetic diagnosis. There was broad adoption across paediatric departments, including rural clinicians and ‘mainstreaming’ of genomics. Surveys of 33 clinician attendees demonstrated the MDT improved key TDF domains such as knowledge, skills, and beliefs about capabilities, and was a key influence on mainstreaming.
Conclusion: Overall the genomic MDTs facilitated rapid genomic diagnosis, upskilling of healthcare professionals, and improved uptake of genomics. We will continue to explore how to improve uptake, across additional areas of medicine in our CAG.
Biography
Dr Alan Ma is a clinical geneticist and early career clinician researcher and implementaiton scientist. He is an implementation science academy fellow of Sydney Health Partners (SHP), and member of the SHP Clinical Academic Group in genomics and precision medicine. Together with the other CAG members (Co-Chairs Prof. Robyn Jamieson and A/Prof Mimi Berman), project officer Katherine Mai, and team members (Dr Michel Tchan, Prof. Bruce Bennetts, Clin Prof Kristi Jones, Dr Rosie O'Shea, Dr Amali Mallawaarchchi, Dr Hugh McCarthy, A/Prof. Natalie Silove, Dr Ingrid Sinnerbrink, Emma Bonser) they are studying ways to facilitate genomic mainstreaming, multidisciplinary teams, and precision medicine into the healthcare system.
Prof Adam Jaffe
UNSW Sydney
Facilitator - Panel Discussion: Challenges of sustained translation in genomic screening and testing: battle scars, lessons learned, and priority actions to move forward
5:00 PM - 5:30 PMBiography
Adam Jaffe is the John Beveridge Professor and head of Paediatrics and Child Health at UNSW, Sydney, head of the Randwick Clinical Campus and a Respiratory Consultant at Sydney Children’s Hospital Randwick. Jaffe has expertise in rare diseases and chairs the Scientific and Medical Advisory Committee of Rare Voices Australia. He contributed to the writing of the National Strategic Action Plan for Rare Diseases and the National Recommendations for Rare Disease Health Care. Jaffe is also on the Rare Diseases International World Health Assembly resolution taskforce and the International Rare Disease Research Consortium n of 1 taskforce. Jaffe established the molecular and integrative precision medicine centre for cystic fibrosis at UNSW Sydney.
Ms Tiffany Boughtwood
Managing Director
Australian Genomics
Panel member
Biography
Tiffany Boughtwood is the Managing Director of Australian Genomics, an Australian Government initiative supporting genomic research and its translation into clinical practice through broad engagement and a collaborative national approach. Tiffany has 25 years’ experience in molecular biology and management: leading academic and diagnostic genomic programs; collaborating internationally in genetic and genomic research; and consulting in health genomic implementation. She served on the World Economic Forum Global Future Council for Biotechnology and the WHO Collective Global Network for Rare Disease, and advised the initiation of the UAE Genomic Program. Tiffany is a member of the WHO Technical Advisory Group on Genomics and is a Director of the Childhood Dementia Initiative.
ORCID https://orcid.org/0000-0002-9634-3731
LinkedIn https://www.linkedin.com/in/tiffany-boughtwood-4a67493a
A/Prof Ness Tyrrell
Program Director, Zero Childhood Cancer
Children’s Cancer Institute
Panel member
Biography
Associate Professor Ness Tyrrell BAppSc MBA FHGSA ARCPA GAICD is Head of the Clinical Translation Research Division, and Program Director of the ZERO Childhood Cancer National Precision Medicine Program at Children’s Cancer Institute, with accountability for directing and sustaining the Program, ensuring efficient, effective, and medically responsible delivery of all aspects of the program, and building it into a sustainable permanent national precision medicine platform supporting research driven clinical care in the long term.
With over 30 years of experience in all disciplines of genetic testing in both public and private pathology and research sectors, global biotech commercial industry experience, and over 20 years of continuous active voluntary service to peak professional bodies, Ness is a recognised leader in her field. She has actively contributed to state and federal governments’ and professional bodies’ advisory committees, review, consultation, and development of policy, and the implementation of genomics and precision medicine in Australia. She is a Past President of the Human Genetics Society of Australasia (HGSA), and has previously been appointed by the Federal Health Minister to the NHMRC’s Human Genetics Advisory Committee, during which time she advised on and contributed to high level policy and position papers. Most recently she has been appointed to the MSAC Evaluation Sub-committee, and Australian Genomics National Steering Committee.
Prof Claire Wakefield
UNSW Sydney
Panel member
Biography
Professor Wakefield is a medical psychologist whose work aims to improve outcomes for children and young people, particularly those affected by cancer. Her research encompasses psychosocial, behavioural and ethico-legal domains, from diagnosis, through to survivorship, palliative care and bereavement. Prof Wakefield’s work spans across high income countries through to the most resource limited settings. She is a Professor in the School of Clinical Medicine at UNSW Sydney, Executive Director of the Behavioural Sciences Unit at Sydney Children’s Hospital and serves on the Board of Directors for the International Society for Paediatric Oncology (SIOP). As Continental President for SIOP Oceania, Prof Wakefield advocates for improvements in child cancer care/policy in Papua New Guinea and the wider Western Pacific region.
Adj. A/Prof Paula Bray
Sydney Children’s Hospitals Network
Panel member
Biography
Adj. Associate Professor Paula Bray is the Network Director of Research for the Sydney Children’s Hospitals Network. Paula completed her PhD and post-doctoral studies in measurement science and improving clinical care through development and implementation of international clinical practice guidelines for Duchenne muscular dystrophy and Charcot-Marie-Tooth disease. Paula is committed to advancing healthcare delivery through unlocking value by implementing research-enabled care. She works closely with research leaders, clinicians and partners to achieve national and international research impact that works to solve the biggest challenges facing children’s health.
Dr Elizabeth (Emma) Palmer
Senior Clinical Lecturer
Sydney Children’s Hospitals Network, UNSW Sydney
Panel member
Biography
Dr (Elizabeth) Emma Palmer is a university lecturer at the University of New South Wales in Sydney, Australia, and Clinical Geneticist at Sydney Children’s Hospitals Network. Dr Palmer is passionate about improving the patient journey for all with rare genetic conditions and their families. Her work aims to improve the recognition of the possibility of genetic conditions by improving clinician education about rare diseases, maximising the diagnostic yield of genetic tests and optimising patient care by linking families to best practice guidelines, treatments and supports. Dr Palmer strives to ensure that the patient and family voice is always central to all her research. She has over 100 peer reviewed journal articles, including those describing nine new genetic conditions.
