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Abstract:
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Pharmacogenomic and genetic studies offer great promise in precision medicine to improve scientific knowledge on how genes affect a person’s responses to certain drugs or exposures. In some real-world settings, probands revealed interesting adverse events or phenotypes, but died before providing DNA. The phenotypic and genotypic data of their relatives are often available or accruable. For a realistic occurrence of probands with missing genotypes, we developed a statistical tool and made it publicly available for researchers to determine the power gain of including ungenotyped probands and genotyped relatives in their studies on continuous or dichotomous outcomes. The PADAG (Power Analysis and Data Augmentation with Patients Missing Genotypic Data) App provides information on augmented power if phenotyped, but ungenotyped patients are included in study design and analysis, in addition to phenotyped and genotyped relatives. The inclusion of ungenotyped probands in study design and analysis can help enhance the discovery of real-world evidence on the effects of genetic variants on biological outcomes or responses, such as to toxicity and infectious agents for precision medicine.
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