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

Abstract

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..