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15th Anniversary of the Human Genome Publication; A Conversation with Mike Hunkapiller

Tuesday, February 23, 2016

This month serves as the 15th anniversary of the first publication of the human genome by both public and private efforts. PacBio CEO Mike Hunkapiller was a central player in both efforts as the leader of Applied Biosystems, the company that developed and supplied the automated Sanger-based sequencing technology that made the projects possible.

In honor of the occasion, Mendelspod host Theral Timpson asked Mike to join him in a commemorative conversation to discuss his memories of the project, as well as how genome sequencing technology has developed since.

Mike talked about what was happening behind the scenes of these historic efforts, and the ways in which public and private efforts collaborated. He said the DNA sequencing technology was in some ways ahead of other aspects of the project needed to make it work — such as sample handling and informatics tools to assemble the data. The informatics was the final hurdle, he said, which came together “literally a few days before the famous announcement at the White House.”

In the years since, the cost of sequencing has gone down, while the technology has become faster and better. This includes the cost of conducting projects with PacBio sequencing, which has gone down “dramatically,” Mike said. While hesitant to predict what the next 15 years will bring, he noted that the company’s newest product, the Sequel System, is designed to reduce the cost of SMRT Sequencing even further.

There exists today a “quality versus quantity camp” when it comes to genome sequencing, Mike and Theral agreed. Mike explained that while short-read technologies have been good for generating lots of single nucleotide variant information from a large number of individuals, “what’s become clear in the last year or so is how much other kind of variation — that are in some sense structurally more important — you just don’t pick up with the short-read technology.” As awareness of this fact has grown, Mike said, interest among scientists in going back to get more complete sequence information has increased considerably. (See this Nature paper by Evan Eichler and colleagues.)

Mike explained that PacBio’s goal over time is to lower the cost of SMRT Sequencing so that scientists can get not only a SNP map (which is what the short-read “$1000 genome” is today) but also structural information, high-quality de novo assemblies, haplotype phasing, and more — all for the same cost.  “If we can get the cost down to where you get all of that information in one experiment, for the same price or roughly the same price as it takes to get just one area of that — say the single nucleotide variation — then we think we have a very, very compelling offering,” Mike said.

Theral asked Mike how much he thinks the tool makers have been at the steering wheel of the whole genomics revolution, and Mike responded that most of the technology has been driven by the private sector, while the scientific community has driven the applications of how to use the data to solve all types of biological questions. “It’s a virtuous circle,” he said, “where technology drives science and science drives technology.”

To listen to the entire 30-minute conversation, visit: https://mendelspod.com/podcasts/human-genome-turns-15-mike-hunkapiller-ceo-pacbio/.

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