PMID- 22369688 OWN - NLM STAT- MEDLINE DCOM- 20120625 LR - 20211021 IS - 1471-2164 (Electronic) IS - 1471-2164 (Linking) VI - 12 Suppl 4 IP - Suppl 4 DP - 2011 Dec 22 TI - A rigorous approach to facilitate and guarantee the correctness of the genetic testing management in human genome information systems. PG - S13 LID - 10.1186/1471-2164-12-S4-S13 [doi] AB - BACKGROUND: Recent medical and biological technology advances have stimulated the development of new testing systems that have been providing huge, varied amounts of molecular and clinical data. Growing data volumes pose significant challenges for information processing systems in research centers. Additionally, the routines of genomics laboratory are typically characterized by high parallelism in testing and constant procedure changes. RESULTS: This paper describes a formal approach to address this challenge through the implementation of a genetic testing management system applied to human genome laboratory. We introduced the Human Genome Research Center Information System (CEGH) in Brazil, a system that is able to support constant changes in human genome testing and can provide patients updated results based on the most recent and validated genetic knowledge. Our approach uses a common repository for process planning to ensure reusability, specification, instantiation, monitoring, and execution of processes, which are defined using a relational database and rigorous control flow specifications based on process algebra (ACP). The main difference between our approach and related works is that we were able to join two important aspects: 1) process scalability achieved through relational database implementation, and 2) correctness of processes using process algebra. Furthermore, the software allows end users to define genetic testing without requiring any knowledge about business process notation or process algebra. CONCLUSIONS: This paper presents the CEGH information system that is a Laboratory Information Management System (LIMS) based on a formal framework to support genetic testing management for Mendelian disorder studies. We have proved the feasibility and showed usability benefits of a rigorous approach that is able to specify, validate, and perform genetic testing using easy end user interfaces. FAU - Araujo, Luciano V AU - Araujo LV AD - EACH - School of Arts, Sciences and Humanities, University of Sao Paulo, Rua Arlindo Bettio, 1000, Ermelino Matarazzo, Sao Paulo, Brazil. lvaraujo@usp.br FAU - Malkowski, Simon AU - Malkowski S FAU - Braghetto, Kelly R AU - Braghetto KR FAU - Passos-Bueno, Maria R AU - Passos-Bueno MR FAU - Zatz, Mayana AU - Zatz M FAU - Pu, Calton AU - Pu C FAU - Ferreira, Joao E AU - Ferreira JE LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20111222 PL - England TA - BMC Genomics JT - BMC genomics JID - 100965258 SB - IM MH - Databases, Genetic MH - Genetic Testing MH - *Genome, Human MH - Humans MH - *Information Storage and Retrieval MH - Internet MH - User-Computer Interface PMC - PMC3287582 EDAT- 2012/03/06 06:00 MHDA- 2012/06/26 06:00 PMCR- 2011/12/22 CRDT- 2012/02/29 06:00 PHST- 2012/02/29 06:00 [entrez] PHST- 2012/03/06 06:00 [pubmed] PHST- 2012/06/26 06:00 [medline] PHST- 2011/12/22 00:00 [pmc-release] AID - 1471-2164-12-S4-S13 [pii] AID - 10.1186/1471-2164-12-S4-S13 [doi] PST - ppublish SO - BMC Genomics. 2011 Dec 22;12 Suppl 4(Suppl 4):S13. doi: 10.1186/1471-2164-12-S4-S13. Epub 2011 Dec 22.