Evolution of the RCPA-HGSA molecular genetics quality assurance program: partnership in action

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Molecular genetic and cytogenetic testing is widely recognised as a laboratory-based diagnostic discipline that is growing at an astounding rate. The almost weekly discovery of new disease-causing genes and the growing complexity of strategies that can be used to identify pathogenic sequence variations and copy number variants, as well as the ready detection of ‘benign’ variants and variants of uncertain clinical significance, poses a unique set of challenges in ensuring the integrity, validity and clinical utility of the results being generated.

For a number of years now, the Human Genetics Society of Australasia (HGSA; in partnership with the European Molecular Genetics Quality Network) and the Royal College of Pathologists of Australasia (RCPA) Quality Assurance Program (QAP) have run independent molecular genetic quality assurance programs. Each of these entities has their strengths and weaknesses, and it is timely that a joint program is being established with the support of a grant from the Quality Use of Pathology Program (QUPP), sponsored by the Australian Government’s Department of Health and Ageing. In this presentation the early steps in the genesis of the joint RCPA-HGSA molecular genetics QAP will be reported, outlining the blueprint for the development of what we anticipate will be a world-class program.

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