Technology advances have resulted in cheaper and quicker genomic sequencing (panels, exomes, whole genomes). Uptake into clinical practice has been rapid despite limited consideration of workforce, patient safety, consent, practice standards, guidelines and cost benefit. AUD 150M (USD 113M) has been independently allocated to genomic initiatives by Australian state and federal governments that don't reflect a national approach to genomics.

Modified horizon scanning (HS) methodology identified issues around genomic sequencing to be considered by governments regarding their support, or otherwise, before appropriate implementation and diffusion into local healthcare systems. A national jurisdictional advisory group was subsequently established that undertook extensive stakeholder consultation across Australia, including written submissions, over a four-month period.

HS identified that genomic sequencing is diffusing rapidly through the health system and flagged issues of pressing concern, including: workforce requirements; education, training and literacy for the medical workforce and community; infrastructure; data; and ethical, legal and social implications (ELSI). HealthPACT recommended a national coordinated approach to policy development across jurisdictional boundaries to ensure appropriate adoption of genomics. Stakeholder consultation confirmed overwhelming support for greater national coordination of the application of genomic knowledge in healthcare. Five strategic priorities were developed to support appropriate integration of genomics into health care for Australians: person-centered approach; workforce; financing; services; and, data. Three principles underpin strategic priorities: i) application of genomic knowledge is ethically, legally and socially responsible and community trust is promoted; ii) access and equity are promoted for vulnerable populations; and, iii) application of genomic knowledge to health care is supported and informed by evidence and research.

HS identified significant policy, workforce, funding and sustainability issues already facing state and territory governments that would, in time, face the federal government. The National Health Genomics Policy Framework outlines an agreed high-level national approach to policy, regulatory and investment decision-making for genomics and was approved by all Australian health Ministers in November 2017.