title: Accelerating translational research by clinically driven development of an informatics platform--a case study.
abstract: Translational medicine is becoming increasingly dependent upon data generated from health care, clinical research, and molecular investigations. This increasing rate of production and diversity in data has brought about several challenges, including the need to integrate fragmented databases, enable secondary use of patient clinical data from health care in clinical research, and to create information systems that clinicians and biomedical researchers can readily use. Our case study effectively integrates requirements from the clinical and biomedical researcher perspectives in a translational medicine setting. Our three principal achievements are (a) a design of a user-friendly web-based system for management and integration of clinical and molecular databases, while adhering to proper de-identification and security measures; (b) providing a real-world test of the system functionalities using clinical cohorts; and (c) system integration with a clinical decision support system to demonstrate system interoperability. We engaged two active clinical cohorts, 747 psoriasis patients and 2001 rheumatoid arthritis patients, to demonstrate efficient query possibilities across the data sources, enable cohort stratification, extract variation in antibody patterns, study biomarker predictors of treatment response in RA patients, and to explore metabolic profiles of psoriasis patients. Finally, we demonstrated system interoperability by enabling integration with an established clinical decision support system in health care. To assure the usefulness and usability of the system, we followed two approaches. First, we created a graphical user interface supporting all user interactions. Secondly we carried out a system performance evaluation study where we measured the average response time in seconds for active users, http errors, and kilobits per second received and sent. The maximum response time was found to be 0.12 seconds; no server or client errors of any kind were detected. In conclusion, the system can readily be used by clinicians and biomedical researchers in a translational medicine setting.
authors.affiliation: Unit of Computational Medicine, Department of Medicine, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
authors.forename: Imad
authors.initials: I
authors.lastname: Abugessaisa
authors.affiliation: Rheumatology Unit, Department of Medicine, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
authors.forename: Saedis
authors.initials: S
authors.lastname: Saevarsdottir
authors.affiliation: Unit of Computational Medicine, Department of Medicine, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
authors.forename: Giorgos
authors.initials: G
authors.lastname: Tsipras
authors.affiliation: Medical Management Center, Department of Learning, Informatics, Management and Ethics, Karolinska Institutet, Stockholm, Sweden.
authors.forename: Staffan
authors.initials: S
authors.lastname: Lindblad
authors.affiliation: Rheumatology Unit, Department of Medicine, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
authors.forename: Charlotta
authors.initials: C
authors.lastname: Sandin
authors.affiliation: Dermatology and Venereology Unit, Department of Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: Pernilla
authors.initials: P
authors.lastname: Nikamo
authors.affiliation: Dermatology and Venereology Unit, Department of Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: Mona
authors.initials: M
authors.lastname: Ståhle
authors.affiliation: Rheumatology Unit, Department of Medicine, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
authors.forename: Vivianne
authors.initials: V
authors.lastname: Malmström
authors.affiliation: Rheumatology Unit, Department of Medicine, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
authors.forename: Lars
authors.initials: L
authors.lastname: Klareskog
authors.affiliation: Unit of Computational Medicine, Department of Medicine, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
authors.forename: Jesper
authors.initials: J
authors.lastname: Tegnér
mesh_terms: D001172:Arthritis, Rheumatoid / Q000235:genetics / Q000276:immunology / Q000378:metabolism / Q000628:therapy; D001323:Autoantibodies / Q000097:blood; D015415:Biomarkers / Q000097:blood; D015331:Cohort Studies; D016208:Databases, Factual; D020000:Decision Support Systems, Clinical; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D020407:Internet; D008490:Medical Informatics / Q000379:methods*; D055442:Metabolome; D020641:Polymorphism, Single Nucleotide; D011565:Psoriasis / Q000235:genetics / Q000276:immunology / Q000378:metabolism / Q000628:therapy; D012699:Serology; D013997:Time Factors; D057170:Translational Research, Biomedical / Q000379:methods*; D016896:Treatment Outcome; D014584:User-Computer Interface
chemical_list: D001323:Autoantibodies; D015415:Biomarkers