Chapter 30 - Introduction to Applications of Genomic Sequencing

Abstract

Since completion of the Human Genome Project in 2001, dynamics in human genetics have greatly accelerated. Sequencing a human genome used to be a multimillion dollar project but is now reduced to less than $2000 and increasingly becomes routine in research and clinical applications. Disease gene discovery has greatly accelerated and the importance of rare and “private” alleles is evident, which can only be identified by sequencing. Clinical genetic testing is currently going through radical changes, leading to comprehensive, yet still more affordable tests. The optimism is such that the National Institutes of Health (NIH) and other organizations have targeted the identification of possibly all Mendelian disease genes in the coming decade. New challenges have come into focus, including managing very large amounts of data, translation into clinical electronic record systems, genomic data sharing, data security, and others. Regardless, the enthusiasm resulting from decoding the entire human genome is beginning to play out in applications for research and patient care. This chapter will introduce a few key aspects of this, still new, age of genomics.