SMART Genomics Advisor Tutorial Hello and welcome to a demonstration of the SMART Genomics Advisor.

We will demonstrate, among other things, merging a patient’s genomic and non-genomic clinical information into an integrated clinical informatics display. This video addresses diabetes mellitus type 2. While we can run the SMART Genomics Advisor App standalone, we will first show it integrated into a version of the SMART Diabetes Monograph (see Figure S1, S2). The standard SMART Diabetes Monograph app presents blood pressure, vitals, cholesterol, other key labs and other information germane to diabetes type 2. Sample data come from the SMART Reference system using the normal SMART application programming interface. The SMART Genomics Advisor App integration brings in patient genetic data from a secondary database – here an instance of openSNP – and genomics analytics. In our integrated SMART Diabetes Monograph, we present genomic information directly on the main screen, leaving a deeper dive into SNP-level detail to a pop-up screen Looking at the top right, we see the genomics risk conditions: diabetes type 1, diabetes type 2, hypertension, and coronary heart disease. These genetic disposition for having them is important to problems have not developed. graph for selected diabetes related and two serious co-morbidities, are presented because a patient’s clinical decision-making even if the

The risk is a numeric factor, that is, a multiplier, relative to the population norm. A risk factor of one (“one-X”) represents the overall normal population risk. In the graph, for example, a bar which reaches 1X for diabetes mellitus type 1, or DM1, means the patient’s genetic risk for being or becoming DM1 is 1, exactly the population average. A bar reaching 2X would be twice, a bar reaching 1/2X, would mean half the population average. If the risk factor is greater than 1 (blue is baseline) the section above the half way line would be colored red; if less, it is colored green. Looking lower, we see the bar heights reported numerically, colored-coded them green for low and red for high risk. The last piece of integrated genomic information is medication advisories. These represent gene-drug interactions relative to the patient’s current medication list: how

we add something new. To see this detail that. including the comorbidity conditions as they are relevant for recommending treatment and/or further testing. patient genotype and associated genetic information group by each of the four conditions. The relative risk for each SNP is its distance from its graph’s origin.our patients’ genome affects a medications impact in terms of effectiveness. On the pop-up. Certain sizing tweaks are also applied to the radar graphs. Individual SNPlevel risk is used to calculate the summary genomic risk. e. sensitivity. To the left (see Figure S2). too: green for low. they can help trim results to current problems. we can see how. namely. Genomic risk on the main screen is calculated from individual SNP-details in the patient’s genome. cancer will involve connecting the progression of the actual disease with changing gene expression. We also repeat the medication advisories information exactly as seen on the main monograph screen. the summary and detail information are consolidated into a single screen. and visualization. The genomic data come. Because any disease that has known genetic factors can be captured to a good first approximation in a single SMART Genomics Advisor screen. color coded exactly as we saw on the main screen. Launching this app. we intend to enhance the SMART Genomics Advisor App in many ways. unlike the integrated version. Of course. calculation. The SMART API brings in relevant patient data since. from a complementary source. based on risk for each of the SNPs and all conditions. including for dynamic diseases. we show these data in one radar graph per risk condition. orange for medium. Importantly. by engineering a sophisticated clinical app mash up of data. we click the “Genomics Advisor” link. as before. For example. we hope our demonstration hints at how this informatics approach can be .g. The summary genomic risk is shown on the border of each graph. we have also created a standalone for the SMART Genomics Advisor App (see Figure S3). The numbers are color-coded here. The Diabetes Type 2 graph region is larger because it is the focus of the SMART Diabetes Monograph app. our SMART Genomics Advisor-augmented SMART Diabetes Monograph App incorporates genomics for everyday clinical care of diabetes. as before. or mortality. and red for high genomic risk. To the right. we show a list of specific SNPs. which have evolving genomic risk factors. issuing gene drug interaction advisories only for the current medication list.. In summation. morbidity. a disease information summary. Each graph has as many axes as there are contributing SNPs that contribute to the aggregate risk per risk condition.

Our demonstration of our standalone SMART Genomics Advisor App is but a first step toward more complex diseases and broader “omics” integration.org Figure S1.generalized for many diseases. We welcome comments and questions at genomics@smartplatforms. SMART Diabetes Monograph main screen and integrated Genomics Advisor summary .

Figure S2. SMART Diabetes Monograph integrated Genomics Advisor SNP-detail overlay .

Figure S3. Standalone SMART Genomics Advisor App .

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