Scientists celebrate the human genome

It has been 10 years since scientists sequenced the human genome and published the results.

To celebrate that anniversary, the journal Science is publishing a series of reflections on the accomplishment -- and its importance on science today and in the future.

The first musings appeared Thursday and included “vignettes” from the scientists who led the two teams that decoded the genome, Francis Collins and J. Craig Venter.

Collins, now National Institutes of Health director, wrote glowingly about medical advances that have emerged from genome sequencing -- including the case of a 6-year-old boy whose inflammatory bowel disease may have been cured by scientists who sequenced his DNA and discovered a mutation that may have caused his symptoms.

“We stand at a significant juncture,” Collins wrote. “The once-hypothetical medical benefits of individual genome sequencing are beginning to be realized in the clinic.”


Venter focused on vexing questions about sequencing quality, and gaps in scientists’ ability -- “or inability,” he said -- to understand what genome sequences are really telling us. “For genome sequencing to reach its full potential, we still have a long way to go,” he concluded.

University of Chicago professor Molly Przeworski discussed the genome’s impact on population genetics. Tom Hudson, president and scientific director of the Ontario Institute for Cancer Research, in Toronto, wished that more early genome researchers had looked up from the nitty gritty genetic information and focused more on collecting data about clinical histories and the progress of diseases that might have helped scientists today “better understand outcomes and treatment responses.”

Xavier Cortada, a Miami-based artist, described a project where he and 400 museum visitors “synthesized a DNA molecule” from postcards depicting paintings of adenine, cytosine, guanine and thymine -- the nucleotide bases of DNA. And Ronald Cole-Turner, a professor of theology and ethics at the Pittsburgh Theological Seminary, explained how genome sequencing shaped his notion of humanity:

“What, then, does it mean to be human? If I ever knew the answer, I am becoming less clear all the time, thanks in part to discoveries related to the human genome. The irony is discomforting. As we gain precision, we seem to be losing conceptual clarity.”

The pieces will appear throughout the month of February.

RELATED: The Times reports on sequencing the human epigenome.