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The study aimed to utilize machine learning (ML) approaches and genomic data to develop a prediction model for bone mineral density (BMD) and identify the best modeling approach for BMD prediction. The genomic and phenotypic data of Osteoporotic Fractures in Men Study (n = 5130) was analyzed. Genetic risk score (GRS) was calculated from 1103 associated SNPs for each participant after a comprehensive genotype imputation. Data were normalized and divided into a training set (80%) and a validation set (20%) for analysis. Random forest, gradient boosting, neural network, and linear regression were used to develop BMD prediction models separately. Ten-fold cross-validation was used for hyper-parameters optimization. Mean square error and mean absolute error were used to assess model performance. When using GRS and phenotypic covariates as the predictors, all ML models' performance and linear regression in BMD prediction were similar. However, when replacing GRS with the 1103 individual SNPs in the model, ML models performed significantly better than linear regression (with lasso regularization), and the gradient boosting model performed the best. Our study suggested that ML models, especially gradient boosting, can improve BMD prediction in genomic data. [ABSTRACT FROM AUTHOR]

Information technology approaches to delivering diagnostic clinical decision support (CDS) are the subject of the papers to follow in the proceedings. These will address the history of CDS and present day approaches (Miller), evaluation of diagnostic CDS methods (Friedman), and the role of clinical documentation in supporting diagnostic decision making (Schiff). In addition, several other considerations relating to this topic are interesting to ponder. We are moving toward increased understanding of gene regulation and gene expression, identification of biomarkers, and the ability to predict patient response to disease and to tailor treatments to these individual variations—referred to as “personalized” or, more recently, “predictive” medicine. Consequently, diagnostic decision making is more and more linked to management decision making, and generic diagnostic labels like “diabetes” or “colon cancer” will no longer be sufficient, because they don’t tell us what to do. Ultimately, if we have more complete data including more structured capture of phenomic data as well as the characterization of the patient’s genome, direct prediction from responses of highly refined subsets of similar patients in a database can be used to select appropriate management, the effectiveness of which was demonstrated in projects in selected limited domains as early as the 1970s. In general, there are six classes of methodologies, including the above, which can be applied to delivering CDS. In addition, patients are becoming more knowledgeable and should be regarded as active participants, not only in helping to obtain data but also in their own status assessment and as recipients of decision support. With the above advances, this is a very promising time to be engaged in pursuit of methods of CDS. [ABSTRACT FROM AUTHOR]

The article offers the insights of various people on the 27 billion dollar investment in electronic records, the centerpiece of the Health Information Technology for Economical and Clinical Health (HITECH) Act in the U.S. Based from William Hersh of Oregon Health and Science University, the investment will be used to help achieve the goals of health-care system. Moreover, Joseph Tan of McMaster University says that leadership is the most important element for a successful electronic transition.