A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

Abstract

PURPOSE While the diagnostic success of genomic sequencing expands, the complexity of this testing should not be overlooked. Numerous laboratory processes are required to support the identification, interpretation and reporting of clinically significant variants. This study aimed to examine workflow and reporting procedures among US laboratories to highlight shared practices and identify areas in need of standardization. METHODS Surveys and follow-up interviews were conducted with laboratories offering exome and/or genome sequencing, to support a research program or for routine clinical services. The 73-item survey elicited multiple choice and free text responses, later clarified with phone interviews. RESULTS Twenty-one laboratories participated. Practices highly concordant across all groups included: consent documentation, multi-person case review, and enabling patient opt-out of incidental or secondary findings analysis. Noted divergence included use of phenotypic data to inform case analysis and interpretation, and reporting of case-specific quality metrics and methods. Few laboratory policies detailed procedures for data reanalysis, data sharing or patient access to data. CONCLUSION This study provides an overview of practices and policies of experienced exome and genome sequencing laboratories. The results enable broader consideration of which practices are becoming standard approaches, where divergence remains, and areas development of best practice guidelines may be helpful.