Traditional drug development pipelines are inefficient and expensive. Innovative strategies are needed, but innovation requires new perspectives. Genetics is providing some of these new perspectives. Genome-wide association studies have revealed a spectrum of common genetic markers for a number of traits, diseases, and treatment outcomes. At about the same time, a whole new class of genetic variation was discovered, known as copy number variants (CNVs): deletions and insertions of small chromosomal segments, containing from one to dozens of genes. CNVs have been shown to play a major role in autism, schizophrenia, and developmental disorders, and may also contribute to treatment outcomes [for review, see Malhotra & Sebat, 2012]. CNV’s often arise de novo as chromosomes are passed from parent to offspring, providing a dynamic source of genetic differences within every generation.
