April 15th, 2011
11:49 AM ET

DNA Day: Meet the Osbournes' geneticist

Happy National DNA Day! Yes, that's right: The stuff of life has its own holiday on April 15. It's to commemorate the discovery of the double helix structure of DNA in April 1953, and the completion of the Human Genome Project in April 2003.

To celebrate, I caught up with Nathan Pearson, geneticist at Knome, Inc. in Cambridge, Massachusetts. Pearson has had the distinction of analyzing the genomes of Ozzy and Sharon Osbourne, and shared the stage with them at the TEDMED conference in October to present some of his insights about Ozzy. That presentation is in the video above.

Since October, Pearson and colleagues have been involved in more large projects involving sequencing many genomes at a time. They're focused on building software that could look at several genomes together and hone in on differences between sick and healthy people.

Most of Knome's clients are researchers, but consumers are starting to catch on to the idea that genomic sequencing could help them take better care of themselves and their families.

"In the consumer world, and especially in health care, I think that whole-genome sequencing is being driven first by what I think of as ‘fast-growing tissues.’ And those tissues are tumors and children," Pearson said.

There's a lot of potential in the cancer field for this kind of research. For example, scientists could potentially find the signatures of tumors that haven't fully developed yet. Eventually, there could be early monitoring for tumors, where people would be routinely screened for dangerous-looking genetic variants in tissue, and interventions could be developed before cancer growth.

At the same time, identifying such variants allows scientists to develop individualized treatments that could knock an existing tumor down.

"By understanding what mechanisms let it spread in terms of cell biology, through the prism of the genome, we could design new therapies or adapt existing therapies more efficiently to particular people’s tumors," Pearson said.

Such tailored medical care is already happening to some extent. A high-profile example is the treatment of English-American author Christopher Hitchens, who has stage IV squamous cell carcinoma of the esophagus. Doctors analyzed samples of both healthy and tumorous tissue, and looked for any mutations in the DNA of the cancerous cells. It turns out that Hitchens has a mutation that an existing drug, called imatinib (Gleevec) already targets, and that's what he's taking to fight his disease.

Of course, undergoing this kind of genomic sequencing is expensive - for Ozzy Osbourne it was about $40,000, for example. Still, in terms of universally yielding useful information to inform health care decisions, the technique is not ready to be widespread.

"I would guess it's going to be a couple years before we have, generally speaking, in most cases of cancer, some real insight to be had from the sequence itself," Pearson said.

The other area of interest among consumers, Pearson noted, is children's health. Parents want to know what's making their kids sick and get information that might help make them better. Prospective moms and dads can also get themselves before having children to understand what worrisome variants each of them may carry, and the risks of disease in their children.

"Any two people can have a healthy child together. It’s a matter of watching out for a few variants," Pearson said.

Of course, this all takes time. The sequencing and initial data processing take about a month, and then it's at least another couple of weeks before researchers can try to understand what a genome can tell us.

Besides looking for signs of disease, Pearson's group is also interested in looking for genomic variants that might be related to creativity and artistic talent.

"We’re still waiting to tap into Ozzy’s vast Rolodex of rock stars," he said.

Not everyone is as curious about  genetic makeup as the Obsournes. Pearson acknowledges there are still people uncomfortable with the idea or afraid of what sequencing might uncover. But he likens this to the advent of photography, which some used to believe would snatch your soul, or at least be highly invasive. Today, people are photographed all the time, including at airports in a sense with the somewhat controversial backscatter scans. Similarly, genomic sequencing could become less scary as it gets more widespread.

There are still ethical issues, of course. In the thought-provoking sci-fi movie Gataca, for example, parents pre-choose their possible children after conception, and everyone is basically destined for a particular strata of society based on what their genes predict about health and fitness. As electronic medical records become more widespread, these concerns also arise.

"There are sobering issues for society to grapple with going forward," Pearson said. "There’s a lot of benefit to be had, but certainly problems that we’ll have to solve."

Filed under: TEDMED

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