The Thousand Dollar Genome

Ten years ago, shortly after the publication of the first draft of the Human Genome Project, researchers coined the catchphrase “the $1,000 genome” designating the ambitious target to fully realize the fruits of human genomic research by means of routine genome sequencing. Remarkably, that goal is almost a reality. Companies are already sequencing and annotating complete human genomes for less than $10,000 and we are witnessing more and more examples of whole genome (or exome) sequencing in the clinic, particularly in pediatrics and oncology. These suggest a dazzling future for genomic medicine, although we cannot underestimate the regulatory, ethical and downstream informatics challenges, or what some refer to as “the $1-million interpretation.”