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Experts Weigh in on Human Genome, 10 Years Post-Publication

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) – In Science today, more than half a dozen short articles commemorate the 10-year anniversary of the publication of the human genome sequence.

In the first of these, National Institutes of Health Director Francis Collins, who headed one of two genome sequencing efforts at the time, provided examples of cases in which genomics has been used to find genetic factors and mechanisms underlying individuals' diseases.

Based on such examples, Collins posits that "we stand at a significant juncture — the once-hypothetical medical benefits of individual genome sequencing are beginning to be realized in the clinic."

"This transition will require hard work and ingenuity," he added. "My hope is that when the day arrives to celebrate the 20th anniversary of the original human genome publications, we will be able to look at a world filled with the faces of people whose health has been improved by the sequencing of their genomes."

For his part, Craig Venter, who led another genome sequencing team, highlighted some issues related to standardizing the quality and assembly of genome sequences. He also emphasized the importance of accurately interpreting information in the genome, arguing that phenotypic data collections "will be the foundation for accurately predicting clinical outcomes from DNA sequence information."

"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 concluded. "We have come a long way in genomics; however, for genome sequencing to reach its full potential we still have a long way to go."

In the remaining articles, experts from a range of disciplines addressed some of the clinical, scientific, social, and philosophical implications of the first human genome sequencing effort.

For instance, University of Chicago researcher Molly Przeworski touched on ways in which genomics is contributing to a better understanding of human populations, while Baylor College of Medicine Human Genome Sequencing Center Director Richard Gibbs discussed the interplay between genomics and genetics.

Ontario Institute for Cancer Research President and Scientific Director Tom Hudson, meanwhile, addressed the use of genomic information in the clinic and strategies for enhancing the clinical relevance of genome sequence data.

"If I could move the clock back to 2001 and change course, I would invest significantly more in developing large clinical resources with detailed clinical histories, deep phenotyping, and longitudinal follow-up in order to better understand outcomes and treatment responses," Hudson wrote. "If genomics was now being integrated with such resources, we would be closer to achieving a form of personalized medicine that clinicians would be eager to adopt."

Finally, Pittsburgh Theological Seminary theology and ethics researcher Ronald Cole-Turner and Miami artist Xavier Cortada, respectively, described how the human genome has impacted concepts of humanity and how it can be portrayed artistically.

Additional perspectives on the human genome are reportedly scheduled to appear in Science throughout the month.

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