The NATA/RCPA accreditation of next generation sequencing - the story so far

Abstract

Since the last RCPA Pathology Update meeting, NATA is receiving an ever increasing number of requests to have next generation sequencing (NGS) assessed and added to facilities’ Scopes of Accreditation. NATA has performed small a number of assessments of facilities using NGS across a number of different fields of testing, including medical, biological and veterinary testing facilities. The range of testing includes facilities performing: •Sequencing only with generation and supply of raw data to third parties. •Analysis and reporting of pre-sequenced data only. •Facilities utilising NGS for existing testing such as BRCA1 and BRCA2, CADASIL, episodic ataxia type 2 (EA2) and familial hemiplegic migraine (FHM1, FHM2, FHM3). •Facilities utilising NGS for new targeted gene panels. Some of the issues which were identified at Pathology Update 2013 were found to be problematic at these assessments. These include a lack of definitive Australian NGS specific guidelines or standards on which to base assessment findings, a shortage of technical assessors with the expertise to cover this area, a lack of reference material on which to base validation studies, a lack of QAP program availability and the potential for inconsistency in the assessment process. However, the use of a small but dedicated and motivated technical assessor pool and the process of peer review has overcome many of these issues. The facilities being assessed have also taken the assessment process in good spirit and after some robust interaction between laboratory and assessment teams have generally welcomed the findings and recommendations which have flowed from the assessment. I will attempt to summarise some of the issues the NATA/RCPA assessment process has encountered since Pathology Update 2013. Since the last RCPA Pathology Update meeting, NATA is receiving an ever increasing number of requests to have next generation sequencing (NGS) assessed and added to facilities’ Scopes of Accreditation. NATA has performed small a number of assessments of facilities using NGS across a number of different fields of testing, including medical, biological and veterinary testing facilities. The range of testing includes facilities performing: •Sequencing only with generation and supply of raw data to third parties. •Analysis and reporting of pre-sequenced data only. •Facilities utilising NGS for existing testing such as BRCA1 and BRCA2, CADASIL, episodic ataxia type 2 (EA2) and familial hemiplegic migraine (FHM1, FHM2, FHM3). •Facilities utilising NGS for new targeted gene panels. Some of the issues which were identified at Pathology Update 2013 were found to be problematic at these assessments. These include a lack of definitive Australian NGS specific guidelines or standards on which to base assessment findings, a shortage of technical assessors with the expertise to cover this area, a lack of reference material on which to base validation studies, a lack of QAP program availability and the potential for inconsistency in the assessment process. However, the use of a small but dedicated and motivated technical assessor pool and the process of peer review has overcome many of these issues. The facilities being assessed have also taken the assessment process in good spirit and after some robust interaction between laboratory and assessment teams have generally welcomed the findings and recommendations which have flowed from the assessment. I will attempt to summarise some of the issues the NATA/RCPA assessment process has encountered since Pathology Update 2013.