The Downsides of Everyman's Human Genome Sequencing
With this revolutionary technology unraveling the mysteries of our genes at such a rapid pace, it must be noted that all of Life Technologies' publicity materials for new-product launches featured the same statement buried somewhere within. They say that "these products are for research use only, and not intended for any animal or human therapeutic or diagnostic use." That's the makers' way of saying that you can use these machines to study any disease or the human genome. You just can't study a specific person's genome for the sake of helping them make decisions about their health treatment.
Since this is such a new technology, the U.S. Food and Drug Administration (FDA) must review and approve all of these next-generation sequencing machines before they're let loose on patients.
In the summer of 2011, the FDA called a panel of manufacturers and experts to discuss the questions surrounding these kinds of sequencers. While everyone agreed that they are a powerful tool, many questions have to be addressed before they will be allowed to process human genetic information for the purpose of clinical decision-making. They range from how the sample is extracted to ensure it's clean to how the software outputs and interprets its data.
With many manufacturers approaching the same problem from different angles, the FDA has determined that it needs to devise a system for validating new sequencers before they are approved for clinical use. The agency wants to give doctors assurance that the systems can guarantee a certain level of accuracy. The problem with that proposition comes with devising a standardized test for sequencers. It would be ideal if the FDA had a set of living cells that had already been sequenced and use them as the test bed. The problem is that cells will tend to mutate over time, so getting that standardized field will be difficult [source: FDA].
That being said, depending on how long it takes to be approved, the Proton might go down in medical history as the first sequencer to roughly hit the magical $1,000-per-human-genome mark, but it may already be replaced by the next round of machines before it ever has a chance to directly help patients. In the meantime, it will undoubtedly have an impact on the research community by allowing for faster, cheaper tests on everything from tumors to tree leaves.