Automation of Rare Disease Diagnostic Data Curation

This case study discusses the implementation of the ACTICO Decision Management Platform by CENTOGENE to automate the curation of diagnostic data for rare diseases. The objective of this initiative is to accelerate the diagnosis process, which traditionally takes up to eight years, by significantly reducing the time required for data curation from one month to just five minutes. The integration of this platform allows for the processing of thousands of patient samples efficiently, enhancing the quality and speed of diagnoses. CENTOGENE's proprietary CentoMD® database, which contains over 430,000 analyzed cases, plays a crucial role in this automation. The partnership with S&D facilitated the implementation of the ACTICO platform, ensuring that the decision-making rules were transparent and verifiable. The results demonstrate a marked improvement in operational efficiency, allowing medical professionals to focus on more complex cases and ultimately benefiting patients by providing quicker access to treatment.