Requirements for human medical genome testing utilising massively parallel sequencing technologies (First Edition 2017)

This document was published by the National Pathology Accreditation Advisory Council (NPAAC) whilst under the governance of the Department of Health and Aged Care. From 1 July 2021, the Australian Commission on Safety and Quality in Health Care (the Commission) assumed responsibility for coordinating the National Pathology Accreditation (NPA) Scheme and supporting the development of the pathology accreditation standards.

Requirements for medical pathology services (Third Edition 2018) is currently in use.

The Commission is undergoing a review process for each of the pathology standards. To remain up to date on upcoming consultations and to provide input, please visit the pathology accreditation standards and sign up now for ongoing updates.

For enquiries about the NPA Scheme or the resources, email pathology@safetyandquality.gov.au.

The Requirements for Human Medical Genome Testing Utilising Massively Parallel Sequencing Technologies (First Edition 2017) outlines the minimum best practice requirements for medical pathology laboratories undertaking the performance and implementation of human genetic testing utilising massively parallel sequencing (MPS) for all applications (ie. single gene, panel of genes, somatic testing, whole exome or whole genome or non-invasive prenatal screening) also known as next generation sequencing. It takes a risk based approach to defining standards for the implementation of these new technologies.