Next-generation sequencing: a new revolution in molecular diagnostics?

In 1980, Fred Sanger and Walter Gilbert were awarded the Nobel Prize in Chemistry for discovering novel ways for sequencing nucleic acids. In 2003, the human genome sequence was published, an effort that involved more than 3000 scientists from 6 countries. The work took 13 years to complete, at a cost of nearly $3 billion. Only 6 years later, nucleic acid sequencing technologies have advanced to a stage in which a human genome can be sequenced within weeks at a cost of $50 000 or less. These new sequencing technologies are about a million times more efficient than standard Sanger sequencing. Now, people are talking about the $1000 genome, and there is an X Prize worth $10 million for sequencing 100 human genomes within 10 days at a cost of $10 000 per genome. International organizations are sequencing thousands of cancer genomes to find novel genetic changes, and individuals with money are paying for genomewide association studies in hopes of preventing diseases to which they are predisposed.