Lay summary
Human genetics has been transformed by the advent of high-throughput sequencing, and many countries have instigated national initiatives to deliver clinical-based exome sequencing as a first-tier test, often with a strong preclinical arm to drive further variant identification and disease gene discovery.
In New Zealand, exomes ordered by clinical services currently rely on third-party providers for sequencing and analysis, creating a shortfall in efficiency with no current avenue for detailed interrogation. This project seeks to address this unmet need, by establishing a clinical:research alliance to maximise diagnosis rates and clinical outcomes beyond what is possible within a prescribed clinical environment. We will combine clinically-obtained genetic data with the flexibility of research-based molecular genetics, undertaking both extended bioinformatic analysis for improved variant identification and functional assays as additional evidence to satisfy clinical criteria for pathogenicity. This project lays the foundation for a long-term national collaboration connecting clinical and research genetics.