Emily Mullin writes via Wired: The human genome is made of more than 6 billion letters, and each person has a unique configuration of As, Cs, Gs, and Ts -- the molecular building blocks that make up DNA. Determining the sequence of all those letters used to take vast amounts of money, time, and effort. The Human Genome Project took 13 years and thousands of researchers. The final cost: $2.7 billion. That 1990 project kicked off the age of genomics, helping scientists unravel genetic drivers of cancer and many inherited diseases while spurring the development of at-home DNA tests, among other advances. Next, researchers started sequencing more genomes: from animals, plants, bacteria, and viruses. Ten years ago, it cost about $10,000 for researchers to sequence a human genome. A few years ago, that fell to $1,000. Today, it's about $600.
Now, sequencing is about to get even cheaper. At an industry event in San Diego today, genomics behemoth Illumina unveiled what it calls its fastest, most cost-efficient sequencing machines yet, the NovaSeq X series. The company, which controls around 80 percent of the DNA sequencing market globally, believes its new technology will slash the cost to just $200 per human genome while providing a readout at twice the speed. Francis deSouza, Illumina's CEO, says the more powerful model will be able to sequence 20,000 genomes per year; its current machines can do about 7,500. Illumina will start selling the new machines today and ship them next year.
Illumina's sequencers use a method called "sequencing by synthesis" to decipher DNA. This process first requires that DNA strands, which are usually in double-helix form, be split into single strands. The DNA is then broken into short fragments that are spread onto a flow cell -- a glass surface about the size of a smartphone. When a flow cell is loaded into the sequencer, the machine attaches color-coded fluorescent tags to each base: A, C, G, and T. For instance, blue might correspond to the letter A. Each of the DNA fragments gets copied one base at a time, and a matching strand of DNA is gradually made, or synthesized. A laser scans the bases one by one while a camera records the color coding for each letter. The process is repeated until every fragment is sequenced. For its latest machines, Illumina invented denser flow cells to increase data yield and new chemical reagents, which enable faster reads of bases. "The molecules in that sequencing chemistry are much stronger. They can resist heat, they can resist water, and because they're so much tougher, we can subject them to more laser power and can scan them faster. That's the heart of the engine that allows us to get so much more data faster and at lower costs," says Alex Aravanis, Illumina's chief technology officer. Illumina's new system comes at a steep cost of around $1 million, which makes them more difficult for smaller labs and hospitals to acquire. They also often require experts to run the machines and process the data.
That said, "Illumina's sequencers are completely automated and produce a report comparing each sample against a reference genome," reports Wired. "Aravanis says this automation could democratize sequencing, so that facilities without large teams of scientists and engineers can run the machines with few resources."
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