Clinical OMICS

MAR-APR 2018

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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Page 43 of 51

42 Clinical OMICs March/April 2018 time we were making maps and working with Mel Simon's group at Caltech—the originators of that BAC [bacterial artificial chromosome] technology, which was very good. But the map-making was difficult and the sequencing was very slow," he said. When PerkinElmer approached Venter and his team about setting up a private enterprise using its new automated cap- illary sequencing technology, the interest was palpable. "It didn't take much convincing for me to see this would be a viable strategy that would be much faster, easier more amenable to automation and scale up and much more suit- able to getting the sequencing done faster," Adams noted. Venter 's commercial ambitions were announce in a front- page New York Times article in May 1998 (the company and name Celera Genomics came later). Adams and others from TIGR also joined the company, as well as Gene Myers, Ph.D., a computational biologist from the University of Arizona, who one year earlier had co-authored a controversial com- mentary published in Genome Research singing the virtues of whole-genome shotgun sequencing. There was rancor immediately within the sequencing community as Venter, an effective self-promoter, predicted Celera would sequence the entire genome in half the time as the international HGP consortium. From Adams' view inside the walls at Celera, while the debate about the viabil- ity of shotgun sequencing had been percolating before Cel- era was formed, some of the resistance was grounded in the organizational structure of the HGP itself, which assigned individual chromosomes to specific sequencing operations. "Shotgun sequencing is nicely designed for a single big production factory and a single big analytical engine to do the assembly," Adams said. "That didn't fit the model that NIH was funding, let alone one an international consortium could support scientifically. The shotgun sequence is simply difficult to allocate over a number of co-equal labs." In addition, the heavy private investment in Celera reig- nited fears about whether the company would seek to assert ownership over regions of the genome such as clinically relevant genes, which could restrict research. (Venter had courted controversy on the topic of gene patenting in pre- vious spells at NIH and TIGR.) Celera suggested that while it would eventually release its sequence data to the public, early access would be afforded the privileged pharma com- panies willing to pay a hefty licensing fee. Most researchers involved in the public genome effort were ardent in their commitment to create a free, open data source available to all scientists. Indeed, two years before Celera was founded, the group had taken the unprece- dented step of agreeing to release all DNA sequence data by the project to a publicly accessible database within 24 hours of generation. The Bermuda Principles were developed at a 1996 project summit held in Bermuda with the backing of influential group members including Sulston. The princi- ples went against the traditional grain of releasing data only after publication and set the stage for today's pre-publica- tion data releases. These efforts helped established a balance between the for- profit and non-profit sectors seeking to extract value from the human genome whether purely financial or as the basis for additional public efforts like the HapMap Project. While not exactly by design, but also not left to seren- dipity, since the announcement of the HGP 15 years ago, the two sectors have achieved some measure of homeostasis. "We should be grateful for the ways things have unfolded because, in fact, we have this very healthy tension between profiteering and biotechnol- ogy and free public data release," noted Gibbs in a 2004 video interview with Cold Spring Harbor Laboratory. "So on the one hand we have this flood of data that anybody can get to, on the other hand we have some very successful biotechnology enterprises. So I think the system is actually working. It's not perfect, but it's not too bad." Venter 's love of genome sequencing hasn't diminished over the past 15 years (Venter would say 17 years, referenc- ing Celera's genome report in Science in 2001). In Febru- ary 2018, his colleagues at Human Longevity published a major report in Nature Genetics on regions of variability in non-coding DNA. We have taken "the next step in harness- ing the power and possibility of the genome to benefit our understanding—and ideally eradication of disease," said Venter. A quest that will keep him and the other genome pio- neers plenty busy over the next 15 years. (continued from previous page) "Sequencing wasn't a big industry like it is today. Mundane things that needed automation, like the ability to harvest plaques or colonies off plates, weren't available as things you could buy, we had to build them." —Elaine Mardis, Institute for Genomic Medicine at Nationwide Children's Hospital

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