Human Molecular Genetics and Genomics — Important Advances and Exciting Possibilities

The breathtaking progress in molecular genetics that has occurred over the past five decades and the transition to genomic medicine would have been difficult to imagine in 1970, when the Institute of Medicine (IOM), now the National Academy of Medicine (NAM), was formed. The term “genomics” hadn’t yet been coined, the tools and technologies that are the foundation of modern biotechnology were in their infancy, and methods for sequencing even a few nucleotides were barely workable.¹

The IOM’s early years coincided with paradigm-shifting discoveries related to DNA, as biologic research swiftly incorporated Boyer and Cohen’s recombinant method, Sanger’s DNA-sequencing work, and Mullis’s introduction of polymerase chain reaction (PCR) technology (see timeline). Yet even against this backdrop, the notion of a “big science” endeavor to sequence the human genome seemed radical.

In 1987, the New York Times Magazine characterized the Human Genome Project as the “biggest, costliest, most provocative biomedical research project in history.”² But in the years between the project’s launch in 1990 and its completion in 2003, genomic technology advanced dramatically. DNA-sequencing throughput increased from 1000...