Science continues to celebrate the decade-old human genome this week with a collection of news stories and invited commentaries on topics that range from whether computers will "crash genomics" to Archbishop Emeritus Desmond Tutu's genome. The Nobel Peace Prize winner writes in Science this week that he chose to have his genome sequenced so that it might "serve as the starting point for a map of DNA variation significant for Southern African peoples, to be used for medical research efforts and [the] effective design of medicines." Archbishop Tutu says he discovered an unexpected relative as a result of having his genome sequenced, adding that "by including all peoples in understanding and reading the genetic code we will realize that all of us belong in one global family."
Elsewhere in the issue, DeCode Genetics' Kari Stefansson throws a metaphorical "anniversary party" for the human genome, though he says that "still today, we do not have 'the complete sequence' of the reference human genome, as parts — such as the centromeres or regions of copy-number variation — are still incomplete." Stefansson says that the reference sequence's "suboptimal quality" remains a limiting factor in genomics research.
Science's Jocelyn Kaiser recently spoke with NHGRI Director Eric Green about the institute's 10-year strategic plan. Green says he hopes "that by 2020 we will have this incredible mountain of information about how genetic variants play a role in disease, that it will just provide an entirely new venue for really thinking about how to both predict disease, maybe prevent disease, and certainly treat disease." In 10 years, he says, the question of whether NIH needs an entire institute devoted to genomics will not be entirely out of step. However, he adds, if NHGRI hadn't pushed the $1,000 genome challenge, "I would question whether we would be where we are now. Virtually every hot new technology that you're now seeing, there's fingerprints associated with some of the grants that we put out and continue to put out."
And Illumina Vice President and CIO Scott Kahn says that "taking control of the size of [sequencing] data is an ongoing but tractable undertaking." Kahn expects that in the future, reference sequence compression "will improve data issues," though he acknowledges that researchers will have to modify existing bioinformatics tools to support such an approach. He anticipates the largest issue, however, will be that of curation — "the nature of derived information used for clinical applications … raises issues around positive and negative controls and what must be stored as part of the medical record," Kahn writes in Science.