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

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Bioinformatics

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

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Reporting

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

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IT Infrastructure

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

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Wet lab

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

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