Chapter 14 – Reporting Software

The sequencing of the human genome and the rise of “omic” profiling technologies have given rise to the clinical use of these data and experimental methodologies to better diagnose, treat, and manage patients having virtually any diagnosis from cancer to heart disease. As next-generation sequencing (NGS) approaches gain traction in the clinical space, the need for reporting software to address all the complexities that come from the clinical use of NGS data is critical. These software systems must not only manage the deluge of data generated by NGS technologies, but also be able to analyze this information to identify, annotate, classify, and support the interpretation of variants. Reporting software must thus be able to leverage clinically validated computational pipelines and to integrate numerous genome annotation, variant, and medical databases in order to perform their required function. Furthermore, these tools must comply with regulatory standards for information technology (IT) and software systems that operate in the clinical space and should adopt well-established medical ontology and software engineering standards to facilitate semantic and syntactic interoperability with upstream and downstream clinical applications. Finally, reporting software must be able to share data nationally and globally through ongoing initiatives in this space, and in a manner that protects patient privacy while enabling more precise and informed interpretation of future patient results through the use of prior patient data.