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Massively Parallel Sequencing Implementation Guidelines

This document is aimed at diagnostic laboratories preparing for implementation of next generation sequencing based genomic methods. At the time of writing (second quarter of 2015), there are no NPAAC standard publications specifically aimed at next generation sequencing in Australian diagnostic laboratories. Australian diagnostic laboratories should adhere to these Guidelines to ensure that the high quality of medical genetic testing across Australia is maintained. It is hoped that this document may provide the basis for a standard in the future.

The first version of this guideline was launched at Royal College of Pathologists of Australasia (RCPA) College's Annual Scientific Meeting, Pathology Update, in February 2013 in Melbourne, Victoria. This document is the second version updated to reflect the developing knowledge and changes in this area of testing in the last 2 years. The updated guidelines have been drafted under the auspices of the Genetics Advisory Committee of the College, with the Chair of the Committee, Melody Caramins, acting as Editor-In-Chief. As per the first version, separate writing committees were developed to address each of the topics/chapters. The writing committees had nominees from the RCPA discipline of Genetics, Faculty of Science of the RCPA, the HGSA, and other experts.

Ethical and Legal Issues

Medical testing by genomic methods share many ethical, legal and social issues with other forms of clinical investigation

Wet lab

“Wet” laboratory issues including laboratory environment, sample/library preparation, template generation, sequencing and quality assurance.


Diagnostic applications of genomic testing span a wide range of approaches.


Provide guidelines and establish principles that should assist in the preparation of a genomics report.

IT Infrastructure

Specific IT infrastructure issues that should be addressed by laboratories considering genomic methods.


The RCPA wishes to acknowledge Dr Melody Caramins (Editor-in-Chief, and Reporting chapter writing committee), the immediate past Editor-in-Chief Professor Graeme Suthers, and the Chapter Editors Dr Janice Fletcher (Ethical and legal issues), Associate Professor Bruce Bennetts (Wet Lab), Professor Leslie Burnett (Bioinformatics), Dr Cliff Meldrum (Reporting) and Professor Graham Taylor (IT infrastructure); the funding provided by the Australian Government Department of Health & Aging, and the RCPA Genetics Advisory Committee. Writing committee contributors included: Ethical and legal issues chapter: Associate Professor David Amor, Professor Leslie Burnett, Dr Mark Davis, Mr Mike Ralston, and Associate Professor Meredith Wilson. Wet Lab Chapter: Dr Desiree DuSart, Dr Andrew Fellowes, Professor Nelson Tang, Dr Elizabeth Tegg. Bioinformatics chapter: Dr Douglas Chesher, Dr Warren Kaplan, Dr Karin Kassahn, and Dr Joshua Ho. Infrastructure chapter: Dr Denis Bauer, Mr Ken Doig, Dr Arthur Hsu, and Associate Professor Andrew Lonie. Reporting Chapter: Professor Leslie Burnett, Dr Melody Caramins, and Dr Peter Taylor.