Translational Informatics in Smart Healthcare

Maggie Haitian Wang, Haoyi Weng

Advancement in technology has nurtured the new era of genetic tests for personalized medicine. In this chapter, we will introduce the current development, challenges, and the outlook of genetic test, disease risk prediction, and genetic counseling. In the first section, we will present the success cases in the areas of molecular classification of tumors, pharmacogenomics, and Mendelian disorders, and the challenges of genetic tests implementations. In the second section, common methods for genetic risk prediction models and evaluation measures will be introduced, as well as challenges in feature reliability, risk model stability, and clinical utility. In the final section, key components of genetic counseling will be introduced, covering individual communications, psychosocial concerns, risk assessments, and follow-ups. Current evidences have shown a promising future for genetic testing and risk prediction; we expect that the advancement of analytical methods, technology, integration of omics data, and the increasing clinical implementation and regulation will continue to pave the way for precision medicine in future.