CHP PhD Confirmation Seminar - David Mordaunt

Seminar title: The health economic implications of rare diseases and diagnostic genomics

Supervisors: Associate Professor Ilias Goranitis (Primary Supervisor, University of Melbourne); Co-supervisor Professor Zornitza Stark (Murdoch Children's Research Institute); Co-supervisor Professor Kim Dalziel (University of Melbourne)

Abstract: Individually rare, cumulatively common diseases, are predominantly genetic and often go undiagnosed. Genomic testing is increasingly used in the clinical setting for timely and accurate diagnosis. Genomic testing is both costly and complex, posing considerable implementation challenges. This PhD aims to address gaps in health economic evidence in three phases. Firstly, a microcosting study will examine clinical genomic testing for rare disease diagnosis, including exome and genome sequencing. Secondly, measurement of real-world utilisation of funded genomic testing in Australia will be used to assess the current state of clinical implementation. This will be followed by measurement of health services utilisation and cost-of-illness in rare disease cohorts undergoing genomic testing, using linked data sourced as part of Australian Genomics studies. The primary objective is to determine the utilisation and cost between symptom-onset and genomic testing, and secondarily what the impact of testing on utilisation and cost is. Finally, an economic evaluation of rare disease genomic testing relative to standard investigative approaches will be undertaken utilising measurements made in the previous phases.

Biography: Dylan is a PhD student in Health Economics at the Melbourne School of Population and Global Health. His PhD research project aims to explore the health economic implications of diagnostic genomic testing for rare diseases. Dylan is a paediatrician and clinical geneticist by training and works in a clinical and management role. He holds a fellowship from the Royal Australasian College of Physicians, a Masters in Public Health (UNSW) and a Masters in Health Leadership and Management (UNSW).

Date and time: 23 January 2024, 14:00 (AEDT)