Clinical validation of the 50 gene AmpliSeq Cancer Panel V2 for use on a next generation sequencing platform using formalin fixed, paraffin embedded and fine needle aspiration tumour specimens

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• 作者：Vivek Rathi¹ ; ² ; ^{Vivek.Rathi@svha.org.au} ; Gavin Wright³ ; Diana Constantin¹ ; Siok Chang¹ ; Huong Pham¹ ; Kerryn Jones¹ ; Atha Palios¹ ; Sue-Anne Mclachlan⁴ ; Matthew Conron⁵ ; Penny McKelvie¹ ; Richard Williams¹
• 关键词：Validation ; next generation sequencing ; mutational analysis ; formalin fixed paraffin embedded ; molecular
• 刊名：Pathology
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：49
• 期：1
• 页码：75-82
• 全文大小：507 K
• 卷排序：49

文摘

The advent of massively parallel sequencing has caused a paradigm shift in the ways cancer is treated, as personalised therapy becomes a reality. More and more laboratories are looking to introduce next generation sequencing (NGS) as a tool for mutational analysis, as this technology has many advantages compared to conventional platforms like Sanger sequencing. In Australia all massively parallel sequencing platforms are still considered in-house in vitro diagnostic tools by the National Association of Testing Authorities (NATA) and a comprehensive analytical validation of all assays, and not just mere verification, is a strict requirement before accreditation can be granted for clinical testing on these platforms. Analytical validation of assays on NGS platforms can prove to be extremely challenging for pathology laboratories. Although there are many affordable and easily accessible NGS instruments available, there are no standardised guidelines as yet for clinical validation of NGS assays. We present an accreditation development procedure that was both comprehensive and applicable in a setting of hospital laboratory for NGS services. This approach may also be applied to other NGS applications in service laboratories.