DNA Sequencing for the Masses

In 1983, I predicted that scientists would sequence the human gene code by the year 2000. The project started in 1990, and by 2000, and a price tag of $32 billion, and the cooperative efforts of thousands, researchers were able to sequence the first human genome. Now a new bench-top device, called the Ion Proton™ Sequencer System, has brought the cost of sequencing a complete genome down to $1,000 – and it can be completed in a matter of hours, making it possible to bring this important diagnostic modality into the mainstream of patient care.

DNA sequencers use disposable semiconductor chips packed with electronic sensors that match samples of a patient’s DNA with known templates. The key to low cost, speed and accuracy is getting all of the data on a single chip, and recent advances in semiconductor technology have finally reached the point where that’s possible. The new chips are literally thousands of times more dense than previous versions, containing about 500 million sensor “wells.”

This will allow doctors to more effectively and affordably screen for genetic conditions or assess the likelihood of a patient’s response to certain drug therapies.