Our Genome's “Dark Matter” Is the Next Frontier in Molecular Diagnostics

Abstract

The completion of the Human Genome Project in 2003 heralded a new era in medicine. Sequence variants causing aberrant protein function can now be identified and associated with specific disease states at unprecedented rates as sequencing technology continues to evolve. Numerous examples exist of how our growing understanding of the human genome has improved our ability to diagnose genetic diseases and facilitated the development of targeted therapeutics for the treatment of cancer and other pathogenic conditions. However, these success stories are the result of work that has focused primarily on the approximately 19000 protein-coding gene sequences, which constitute a minuscule 1%–2% of our genome. Often overlooked regions of the genome may be just as important in transforming medicine as we move further into the 21st century. In a recent article in Nature (1), Chi describes the substantial research efforts currently being devoted to exploring the remaining 99% of the genome—the “dark matter” responsible for controlling the expression of protein-coding genes. …