Genomics in primary care

Embedding genomics in primary care: using implementation science to design a robust national approach

The 'Embedding genomics in primary care: using implementation science to design a robust national approach' project is funded by the 2022 MRFF Genomics Health Futures Mission Grant: MRF:2025125 and managed by the Centre for Healthcare Resilience and Implementation Science at the Australian Institute of Health Innovation.

Project members - Macquarie University

Professor Jeffrey Braithwaite Project Lead and CIA	Dr Janet Long Senior Research Fellow Project Coordinator	Dr Stephanie Best Honorary Research Fellow	Professor Simon Willcock Head of Primary and Generalist Care, MQ Health
Professor Henry Cutler Professor	Dr Samantha Spanos  Senior Research Fellow	Dr Varinder Jeet Research Fellow	Dr Kate Churruca Senior Research Fellow
Dr Sam Sheriff Postdoctoral Research Fellow	Dr Janani Mahadeva  MQ Health	Dr Darran Foo MQ Health

Main project contact

Dr Janet Long

janet.long@mq.edu.au

Project description

This project will ensure a nationally consistent, ethically justified approach to support and embed genomic testing in primary health. Leveraging our extensive research on genomic testing in Australia, as the Implementation Science Stream Leads of both Australian Genomics and the Australian Reproductive Carrier Screening project (Mackenzie’s Mission) we will build, evaluate and integrate a robust suite of tools to support general practitioners and consumers.

A platform of previous work has already identified barriers and enablers for individual practitioners and consumers around genomic testing: lack of skills and knowledge, lack of access, lack of time, lack of confidence when returning tests, and the risk of moral distress.

These barriers inform this project. Using the three condition reproductive screen and test for familial hypercholesterolaemia as genomic test exemplars, we will develop, implement and evaluate: (i) a Primary Health Genetic Test Directory of indications, management and referral guidance, (ii) education modules for GPs offering tests, (iii) a practical guide to dealing with ethical issues in genomics that can lead to moral distress for GPs (iv) genetic counsellor phone support for GPs seeking advice; and (v) a suite of consumer-facing supports in three languages.

Project members - external

• Dr Alison Archibald – Genetic Counsellor and Group Leader, Murdoch Children’s Research Institute
• Ms Monica Ferrie, CEO, Victorian Clinical Genetics Services
• Ms Lucinda Freeman, Head of Discipline, Genetic Counselling, University of Technology Sydney
• Dr Lisa Dive, Lecturer, University of Technology Sydney
• Associate Professor Alison Trainer, Clinical Geneticist, Peter MacCallum Cancer Centre
• Associate Professor Belinda McClaren, Senior Researcher Murdoch Children’s Research Institute
• Professor Ainsley Newson, Professor of Bioethics, University of Sydney
• Professor Martin Delatycki, Co-Director Bruce Lefroy Centre/Clinical Geneticist, Murdoch Children’s Research Institute
• Professor Edwin Kirk, Clinical Geneticist, University of New South Wales
• Professor Nigel Laing, Emeritus Professor, University of Western Australia
• Associate Professor Lucy Gilkes, Clinical Senior Lecturer, University of Notre Dame Australia
• Ms Julie Cini, Consumer Representative
• Ms Samantha Edwards, University of Western Australia
• Dr Ruth Leibowitz, University of Melbourne

Related projects

Mackenzie's Mission