GPRA Futures Profile: Tiffany Boughtwood

Australian Health Genomics Commissioner Tiffany Boughtwood shares how Genomics Australia is working to empower health practitioners and communities to realise the full potential of genomics, and where to find existing resources to support patient care. 
What is your primary vision for how Genomics Australia will support and integrate genomics into everyday Australian general practice over the next few years?

Genomics Australia provides national leadership, coordination and expertise to enable all Australians to benefit from advances in health genomics. It supports the transition from research to the integration of genomics into clinical service delivery.  

Our initial priorities include enhancing access to personalised cancer care, strengthening understanding of community priorities, values and expectations of genomics, and supporting national approaches to genomic information management, with a focus on interoperability, security and privacy.    

A key step in this work is the announcement of $200 million from the Australian Government for the Precision Health Research Program, to be established with the support of Genomics Australia. The Precision Health Research Program will support a national research collaboration that will provide at least 150,000 Australians with insights into their genomic risk and build an Australian genomic data asset. This program will help build the evidence and implementation experience needed to support the longer-term integration of genomics into Australian healthcare. It will also support the development of genomic education materials and tools for the primary care workforce.  

Genomics Australia’s vision is consistent with the National Medical Workforce Strategy 2021-2031 (NMWS), which aims to build a medical workforce with the breadth and adaptability to respond to emerging technologies and evolving models of care. Supporting generalists to safely work across an expanded scope of practice is a key focus. This includes the use of clinical decision support tools integrated into clinical systems, enabling practitioners to incorporate new approaches, such as genomics, into routine care while maintaining high standards of quality and safety.  

At the 2026 Digital Health Festival, a major theme was the information gap in primary care. What specific toolkits or educational resources are being developed to help GPs confidently navigate genomics?

From a workforce regulation perspective, it is essential that health practitioners have the knowledge, skills and attributes to practise safely. Practitioners should be supported to adhere to their relevant codes of conduct, which set clear expectations for ethical and professional behaviour. 

Given the rapid pace of change in genomics, resources must remain current and provide practical guidance to support consistent and safe decision-making. This should include clear direction on key areas such as informed consent, privacy, communication, documentation, appropriate referral to other practitioners and clinical management.

There are existing resources that focus on providing practical tools, guidance and information about health genomics for health professionals, including GPs. Genomics Australia is also identifying trusted health genomics resources for patients and the public developed by government and non-government organisations for inclusion on our website. Future work will focus on resources for health professionals, and the website will continue to be updated as new or revised resources become available. 

To keep up to date on new resources and developments in the genomics field, Genomics Australia has established four networks to strengthen communication with interested stakeholders and to build a more informed and connected health genomics sector. The networks focus on four key areas: Community, Diagnostic and Clinical, Industry, and Research. The Diagnostic and Clinical network is likely to be most relevant to GPs, however, people are welcome to join as many of the networks as they like. 

Network members receive regular communications, including the Genomics Australia Spotlight Newsletter, and are invited to participate in webinars and events. More information, including how to register for a network, can be found on the Genomics Australia website.

For a busy registrar or GP, what are the clearest clinical triggers or ‘red flags’ that indicate a patient should be considered for genomic testing or referral?

The RACGP has developed a resource (RACGP – Genomics in general practice) that gives GPs an overview of their role in genetic testing, along with more detailed guidance on common conditions they may help diagnose or manage. For each condition, the resource outlines the relevant type of genetic test and the signs or symptoms that may indicate testing is needed.

Another available resource to help GPs learn about genetic testing and referrals is PRECISE Genomics: primary care education | Medcast. This website includes CPD-accredited learning and practical guidance for genetic testing, risk assessment, and referrals. The initiative is funded by the Australian Government through the Medical Research Future Fund’s Genomics Health Futures Mission in partnership with multiple healthcare and academic organisations.

Navigating the system can feel fragmented. How is your office working to streamline referral pathways, particularly for GPs practising in regional or rural areas?

Genomics Australia is working in partnership with the states and territories to finalise the National Health Genomics Policy Framework 2026-2030. This framework aims to provide a national, intergovernmental approach to embed genomics into the Australian health system, including addressing access and workforce issues. This approach seeks to minimise fragmentation in the health system and improve overall health and wellbeing outcomes for all Australians.

In addition to providing support to the primary care sector, we are also seeking to empower patients to help them navigate the system. Throughout our work, we take a deliberate approach to engaging, involving and partnering with communities.

Interpreting complex genomic variants can be intimidating. What advice do you have for GPs on handling and communicating ambiguous results, like Variants of Uncertain Significance (VUS), to patients?

Genomic test reports will usually explain what the VUS is and will recommend referral to a clinical genetics service where appropriate. If more clarity is required, GPs can contact the laboratory that issued the report to better understand the finding in the context of the patient. Tools like Health Pathways can guide GPs to the clinical genetics service in their area.

Government resources such as the National Health and Medical Research Council’s Medical Genetic Testing: Information for health professionals contain information about ordering genomic tests, obtaining consent and communicating results to patients and families. When interpreting results, it’s also important to know that laboratories follow established scientific guidelines like those developed by the American College of Medical Genetics (ACMG) and Association of Molecular Pathology (AMP), which help determine how variants are classified and reported to ensure that uncertain findings are handled consistently.

Check out Genomics Australia here: gpra.org.au/genomics