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In search of the $1,000 genome

When researchers sequenced the first human genome over ten years ago, the price tag was nearly $3 billion. The cost has gone down sharply to about $10,000 per genome. The research community has set a new benchmark to sequence an entire genome for $1,000, which could allow physicians to routinely use a patient's genome to inform health care, similar to the way MRIs are used to diagnose conditions. The technological feat is only one part of the challenge. Physicians also will need better approaches to interpret genome data and make recommendations for treatment.

To use genomes to develop better drugs, for instance, scientists would need to sequence the genomes of many people. The $1,000 genome would help to make these large sequencing studies feasible. Some scientists already are trying pilot studies with today's approximately $10,000 genome.

Researchers at Stanford University reported sequencing the genomes of a dozen healthy people looking for mutations that may cause disease. Every patient carried two to six of these mutations. One woman carried a mutation in the BRCA1 gene, which is linked to an increased risk for breast and ovarian cancer. However, clinicians could not easily interpret all of the findings, making it difficult to advise patients carrying a mutation about the need, or not, for additional medical care.

The study researchers encountered a second challenge: Of the genes with a known link to diseases, 10 to 19 percent were not adequately sequenced, preventing researchers from finding mutations. Developers of the next generation of sequencing technology are considering accuracy as well as cost. The National Institutes of Health has taken a nontraditional approach to funding this development, combining public and private research as well as smaller awards for promising, but high risk, proposals. The Advanced Sequencing Technology Awards, granted by the National Human Genome Research Institute (NHGRI), fund basic research on new sequencing methods and industrial research to commercialize this technology. 

Two beneficiaries of the NHGRI program have recently indicated their progress toward the $1,000 genome. Illumina announced the availability of a $10 million machine that reads each DNA base an average of 30 times, the gold standard, to sequence a genome for approximately $1000. Oxford Nanopore Technology revealed data from its genome sequencing device, which costs approximately $1,000, at the Advances in Genome Biology and Technology meeting to mixed reviews. These technologies are just reaching the hands of independent scientists who will determine whether we have in fact reached the $1,000 genome benchmark.

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