Genomic Medicine for Whānau

Over the last 20 years the pace of change in this area of medicine has been tremendous. Increasingly more powerful and comprehensive techniques have fueled this change in clinical practice. In Aotearoa we have a unique set of issues in this domain that includes the resourcing of these techniques, developing protocols that are culturally aligned with the expectations, priorities and tikanga of Māori communities (as well as Pacific populations) and addressing knowledge gaps specific to Aotearoa. 

With this knowledge comes the opportunity to use parallel advances in the use and analysis of administrative national scale datasets to inform not just the clinical healthcare of individuals with genetic conditions but also their educational and social needs. Otago University has strengths in both of these domains of science and in adopting a future-focused strategy, this programme lays out a plan to explore integrating these two research strengths. 

This programme of work will address three specific research strategies. All three have the intent of demonstrating proof-of-principle so that more substantial Government funding can be sought to deliver steps forward for the use of Genomic medicine in Aotearoa.

1. Embedding, refining and expanding the Aotearoa Māori Genomic Variome Resource. Genomic Medicine for Māori will only be accurate if resources, references and datasets are valid instruments to use in diagnostic and research contexts. This work will use new computational tools, ethical frameworks and techniques to grow the quality, size and utility of this resource for genomic diagnostics across Aotearoa.

2. Enhancing genomic diagnostics for whānau in Aotearoa using short and long-read genomic sequencing and functional genomics. This work builds on our core strengths in the definition of new genetic disorders and identification of the genomic underpinnings of well-described entities. We will use short and long read genomic sequencing and functional genomics to address unsolved questions on neurodevelopmental disorders, biliary atresia and metabolic dysregulation.

3. Contribute to developing an evidence base on health and non-health outcomes for children with neurodevelopmental conditions using observational data and contained within the Integrated Data Infrastructure. This work is led by Bowden, an early career researcher at Otago, and a team of Māori researchers. The intent is to join the work by Robertson on the diagnosis of neurodevelopmental conditions with research on health, social and educational outcomes in these children by Bowden and colleagues to expose synergies between these two researchers and build a future-facing strategic direction for research under the Curekids banner in Dunedin.

This programme of work represents a translational step in implementing the dividends of two decades of research into genomic medicine into healthcare in Aotearoa. It aims to build future-facing capability, focused on attaining equity for Māori in this area and to explore connections between genomic diagnostics and how they might build towards positive educational and social outcomes for these children.