Patient similarity for precision medicine: A systematic review

E Parimbelli, S Marini, L Sacchi, R Bellazzi

Research output: Contribution to journalReview articlepeer-review


Evidence-based medicine is the most prevalent paradigm adopted by physicians. Clinical practice guidelines typically define a set of recommendations together with eligibility criteria that restrict their applicability to a specific group of patients. The ever-growing size and availability of health-related data is currently challenging the broad definitions of guideline-defined patient groups. Precision medicine leverages on genetic, phenotypic, or psychosocial characteristics to provide precise identification of patient subsets for treatment targeting. Defining a patient similarity measure is thus an essential step to allow stratification of patients into clinically-meaningful subgroups. The present review investigates the use of patient similarity as a tool to enable precision medicine. 279 articles were analyzed along four dimensions: data types considered, clinical domains of application, data analysis methods, and translational stage of findings. Cancer-related research employing molecular profiling and standard data analysis techniques such as clustering constitute the majority of the retrieved studies. Chronic and psychiatric diseases follow as the second most represented clinical domains. Interestingly, almost one quarter of the studies analyzed presented a novel methodology, with the most advanced employing data integration strategies and being portable to different clinical domains. Integration of such techniques into decision support systems constitutes and interesting trend for future research.

Original languageEnglish
Pages (from-to)87-96
Number of pages10
JournalJournal of Biomedical Informatics
Publication statusPublished - Jul 2018


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