In February 2001, the journal Science published two scientific papers that, for the first time, described parts of the newly sequenced human genome. Ten years later, the journal has dedicated the month of February to a special series of literature about one of the most celebrated scientific breakthroughs our time.

It’s a fitting time to discuss genomics. The field has attracted an unprecedented array of entrepreneurial activity and venture capital, but it’s promise has lost a little luster to an array of technical and logistical challenges. Granted, most scientists hadn’t foreseen practical findings in just a decade, but the business case for sequencing companies is getting slightly more challenging. Clinical results do not yet exist, and the greater challenge of proteomics is considered by many the realm of study where a true understanding of systems biology lies.

The Science articles reflect the mixture of satisfaction and warning. National Institutes of Health Director Francis S. Collins wrote about how genomics is now beginning to impact real people:
“When the draft sequence of the human genome was published in February 2001, Nature and Science featured human faces on their covers. As striking as these images were, they could be seen as more art than science, because systematic genome-wide sequencing had yet to be applied to individuals for medical purposes. What a difference a decade makes. Real faces are now appearing that demonstrate the medical value of comprehensive genome sequencing.”

Collins goes on to describes a 6-year-old Wisconsin boy who until recently suffered from a poorly understand inflammatory condition of the bowels. A whole genome analysis was performed. Researchers identified a genetic mutation that eventually led to an experimental but potentially successful treatment.

Even as Eric Green, director of the National Human Genome Research Institute, is counseling scientists not to expect too much too soon from genomic mapping breakthroughs, Collins message is an auspicious one. Most researchers are still confident that the golden age of genomics will soon be upon us.

But in the same issue of Science, genomics pioneer J. Craig Venter strikes a cautionary tone. Although sequencing techniques are constantly evolving and improving, most cost-effective, or “cheap”, sequencing efforts fall far short of the techniques required to obtain the full diploid human genome sequence of 3 billion base pairs. As recently as 2007, he writes that sort of comprehensive effort required nine months. A period of months is a vast improvement over the four years it took Venter’s team to sequence influenza, the first living species to be decoded. But even today, most sequencing technologies produce much shorter sequences from much smaller DNA fragments.

Sequencing shortcomings might not be as problematic, Venter writes, but for the fact that we lack a library of standardized human phenotypes against which clinical trials and predictive DNA analysis can be performed. The result, he says, is a gap between expectations and reality that is likely to persist until we improve DNA data analysis:

“Although many ‘genome’ companies and researchers are promoting personal genomics for medicine and/or life choices, regulation of data quality and standards is lacking, which has made deceptive marketing a reality in some instances. We have sequence and genetic data quality that is suitable for some scientific analyses but no standards adequate for clinical practice or even for informing individuals of results that exist. “

Venter, the 1998 R&D Magazine Innovator of the Year, is no doubt aware that lack of standardization does not indicate stagnation: development in sequencing technologies will continue as long as potential benefits exist. Researchers are inclined to look ahead. In the same issue of Science, the prospect of whole population genetics and the ability to target and track disease mutations is discussed, even though we don’t yet have the tools to accomplish such wide-scale or high-throughput analyses.

Both Collins and Venter are likely aware of efforts in areas like metabolomics and proteomics that may be complimentary to a better understanding of the human genome. And as soon as real and positive results emerge like the young boy cited by Collins, the push will be on for standardization, clinical transitions, and, hopefully, universal accessibility.