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Are We Ready for the $1,000 Genome?

In a series of three posts at Genomes Unzipped, participants from the Race to the $1,000 Genome session at the Cheltenham Science Festival weigh in on the possibilities presented by less expensive sequencing technology.

Clive Brown, chief technical officer at Oxford Nanopore Technologies, says that although many people criticize the Human Genome Project for not delivering a new era in personalized medicine, what they don't realize is that the project was just one of many "hurdles" that have to be crossed in order for researchers to have a basic scientific understanding of genomics. Brown likens the genomics technology boom to the prevalence of laptop computers and cell phones: A few years ago, only a handful of labs had access to sequencing technology, but now such technology is almost ubiquitous. The $1,000 genome, while it has been talked about for a long time, will simply be a point on the way to a $100 genome or a $10 genome, "and finally to the point where the value of the information generated is far more important, scientifically and commercially, than the cost of generation. In 2007 the goal seemed almost impossible but it is now tantalizingly close," Brown says.

In the second post of the series, the BBC's Adam Rutherford says, culturally, the Human Genome Project was and is "a big deal" because it highlights the complexity of human genetics. The history of genetics, from Mendel to Watson and Crick, has "conspired to reveal a simplistic view of inheritance," he adds, though genomics researchers have had a hard time explaining heritability in the same easy terms as Mendel and his pea plants.

In the third post, Genomes Unzipped's Caroline Wright, says there are different reasons why people might choose to have their genome sequenced — as part of a research study or through a health care provider, for example. While there will be contexts in which cheaper sequencing will undoubtedly be useful, the health care aspect is what generates too much hype, she says. Will cheaper sequencing technology affect public health and what could we learn about diseases to help the sick? There will be challenges to sorting out the utility of genomic sequencing, and to figuring out who should be doing it — the problems of informed consent, storage of genomic data, what to do about incidental findings, preventing genetic discrimination. Despite these hurdles, Wright adds, it's clear that cheaper sequencing will be useful for a number of reasons, though she cautions that knowing what ails your genome doesn't mean there's a cure.

The Scan

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