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Researchers Reflect on a Decade of Human Genomics

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) – In Nature today, genomics leaders Eric Lander, Elaine Mardis, Eric Green, and others reflect on the advances that have come in the decade following the first human genome publications — and describe their view of where the field is headed.

"Genomics has only just begun to permeate biomedical research: advances must proceed through fundamental tools, basic discoveries, medical studies, candidate interventions, clinical trials, regulatory approval and widespread adoption," Broad Institute Founding Director Eric Lander wrote in a review article outlining the consequences of human genome sequencing.

In the decade since the first human genome papers, researchers have leveraged information from human and other genomes to gain insights into gene sequences, expression patterns, and regulatory mechanisms, he explained.

Such information has already contributed to an improved understanding of the genetic variation present in human populations, provided insights into the genetics of several human diseases, and raised hopes of using genomics for more targeted treatment and diagnoses, Lander noted. Even so, there is still a way to go before the full potential of genomic research is realized, he argued, pointing to a need for additional translational and foundational research coupled with technological advances.

"The ultimate goal is for sequencing to become so simple and inexpensive that it can be routinely deployed as a general purpose tool throughout biomedicine," Lander wrote. "To fulfill this potential, the cost of whole-genome sequencing will need eventually to approach a few hundred US dollars.

"With new approaches under development and market-based competition," he added, "these goals may be feasible within the next decade."

In an accompanying perspectives article, Mardis, who is co-director of Washington University's Genome Center, touched on the sorts of advances that allowed genome sequencing to become more widely applicable in the research setting.

"The decade since the Human Genome Project ended has witnessed a remarkable sequencing technology explosion that has permitted a multitude of questions about the genome to be asked and answered, at unprecedented speed and resolution," she wrote. "The continuing upward trajectory of sequencing technology development is enabling clinical applications that are aimed at improving medical diagnosis and treatment."

In a second perspectives article, National Human Genome Research Institute Director Green and his co-authors articulated their vision of how genomics will be applied in a health care setting over the next decade and beyond.

"[G]enomics and related large-scale biological studies will, in ways not previously available, lead to a profound understanding about the biology of genomes and disease, to unimagined advances in medical science, and to powerful new ways for improving human health," they wrote.

"Achieving these goals will continue to rely on new technologies, large-scale collaborative efforts, multidisciplinary and international teams, comprehensiveness, high-throughput data production and analysis, computation intensity, high standards for data quality, rapid data release, and attention to societal implications."

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