17 - The Human Genome and Neonatal Care

Abstract

Since publication of the first complete human genome sequence in 2001, the complete genomes of over 100,000 individuals have been shared with the scientific community. This has allowed characterization of millions of genetic variants. In addition to identifying common and rare variants, researchers have greatly increased understanding of gene function and regulation, and how stage of development, the environment, and clinical interventions impact gene expression and translation to functional peptides. In addition, researchers have identified mechanisms of regulation of gene expressions, such as alternative splicing and the activity of microRNAs (miRNA). With this compilation of work, the number of genetic variants identified as causative of disease, or that are strongly associated with, diseases has been increasing exponentially. This chapter reviews components of the genome, describes tools used by researchers and clinicians seeking to identify causative genes for suspected monogenic conditions, or to identify associations between genetic variants with complex, common, multigenic diseases. The chapter also raises questions about ethical implications of using genetic information accumulating from thousands of individuals, including neonates and children, to search for valid associations between genetic variants and disease, and provides a brief speculation about application of new technologies and next steps in applying our expanding knowledge of the human genome to clinical neonatology.