Summary
The Australian Reproductive Genetic Carrier Screening Project (‘Mackenzie’s Mission’) demonstrated the feasibility, clinical benefit, cost-effectiveness, ethical appropriateness and societal acceptability of delivering expanded reproductive carrier screening (ERCS) nationally. An MSAC application for ERCS (App.1637) was not recommended for public funding through the MBS, and MSAC asked the Department to investigate its funding and implementation as a population screening program. Subsequent discussions with the Department identified outstanding issues to be resolved to progress ERCS as an organised screening program. A multidisciplinary working group will be formed to oversee three sub-projects to address these issues, noting intersections with the ‘clinical consent’ project, and ‘building genomic knowledge in partnership with Indigenous Communities and health services’ project.
Current projects
Modelling workforce and system capacity
This sub-project will undertake an evaluation of the impact of an organised ERCS screening program on health system capacity. Extrapolating from Mackenzie’s Mission study data on ERCS uptake, laboratory processes, increased chance couples identified, and requirements for clinical management, this project will model the projected demand on Australian clinical and laboratory capacity. The Human Genetics Society of Australasia and Australian Genomics recently conducted a census of the Australasian genetics and genomics workforce, which will inform this project.
Evaluating accessibility and affordability of flow-on services
Equitable delivery of an organised ERCS program must be accessible to any Australian couple who wants it, irrespective of their location, education, language, ethnicity and socioeconomic status. This sub-project will evaluate the flow-on services for couples identified as increased chance through ERCS, modelling the barriers to access and affordability, and developing recommendations to ameliorate these barriers.
Digital infrastructure: a national register, recontact of couples and management of data
This project will develop recommendations as to the establishment and management of digital infrastructure in support of ERCS: how to manage a national register of ERCS participation and outcomes; the process of recontact of couples in the case of variant reclassification; and management (and secondary clinical usefulness) of genomic data generated.
Project Leads
Tiffany Boughtwood
Australian Genomics
Professor Martin Delatycki
Victorian Clinical Genetics Services
Professor Edwin Kirk
Sydney Children’s Hospital Network
Professor Nigel Laing
Harry Perkins Institute of Medical Research
Project Coordinator
Kirsten Boggs
Contact
kirsten.boggs@mcri.edu.au