Summary
Australian Genomics is supporting the efficiency, quality and consistency of genomic diagnostic practice in Australia. The ongoing development and expansion of Shariant and PanelApp Australia will continue to drive knowledge sharing between laboratories, to the benefit of the diagnostic services and the patients they serve. Working with the RCPA QAP (Royal College of Pathologists of Australasia Quality Assurance Programs) Australian Genomics will support the delivery of a quality assurance program around genomic interpretation – promoting quality and consistency in diagnostic variant calling around the nation. In developing recommendations and guidelines around reanalysis of genomic data, Australian Genomics hopes to ‘solve the unsolved’: achieving genetic diagnoses for undiagnosed patients based on the ever-growing understanding of human genetics.