The field of genome medicine involves the application of the understanding of genetics to medical care. Besides, its immediate relevance in the diagnosis and management of genetic disorders, it also contributes to revealing etiologies for the incidence of neurological, pulmonary, psychiatric, cardiovascular and endocrine conditions. Various diagnostic chromosome studies, molecular studies and basic metabolic studies are used to form a diagnosis of genetic diseases. Biochemical studies that screen for imbalances of metabolites can be done through quantitative amino acid analysis, acylcarnitine combination profile, urine organic acid analysis, etc. A number of different methods such as fluorescence in situ hybridization (FISH), array comparative genomic hybridization and chromosome analysis, are used for determining the cause of birth defects and developmental delay, autism, etc. Advanced molecular techniques of DNA sequencing and DNA methylation analysis provide insights into the underlying condition. This book is compiled in such a manner, that it will provide in-depth knowledge about the theory and practice of genome medicine. It presents researches and studies performed by experts across the globe. It will prove to be immensely beneficial to students and researchers in this field.