The development of a research intelligence tool for rare disease research in the Netherlands

Abstract

This article describes the process of the development of a research intelligence tool to analyze rare disease research in the Netherlands. To the best of our knowledge, this is the first tool that can surface and organize scientific output on rare diseases using established annotation and natural language processing mechanisms. We focus on the track leading up to the development, including strategic motivation and user needs, of a proof-of-concept tool, upscaling the idea to a national collaboration project, the development of the final tool and a usability evaluation and subsequent fine-tuning. The tool is a unique visualization that allows users to benefit with a few clicks from getting the information they require for their needs, and offers novel scientific indicators to characterize (relatively) rare disease research activity. We discuss the applications of insights derived from this tool for science policy and to support decision-making, and to identify opportunities and potential collaborations and make recommendations for future developments, including a broadening of the scope, and discuss potential novel applications.