Illumina
The human genome is made up 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 order of all those letters took a lot 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 kick-started the age of genomics and helped scientists unravel the genetic causes of cancer and many hereditary diseases, while encouraging the development of home DNA tests, among other things. Next, researchers began 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 dropped to $1,000. Today it is about $600.
Sequencing is now even cheaper. At an industry event in San Diego today, genomics giant Illumina unveiled what it calls its fastest, most cost-efficient sequencing machines to date, the NovaSeq X Series. The company, which controls about 80 percent of the DNA sequencing market worldwide, believes its new technology will cut costs to just $200 per human genome, while providing readouts twice as fast. Francis deSouza, CEO of Illumina, 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 begin selling the new machines today and ship them next year.
“Looking at the next decade, we think we’re entering the era of genomic medicine going mainstream. This requires the next generation of sequencers,” says deSouza. “We need price points to keep going down to make genomic medicine and genomic testing much more widely available.”
Illumina
Sequencing has led to genetically targeted drugs, blood tests to detect cancer early, and diagnoses for people with rare diseases who have long sought answers. We can also thank the sequencing for the COVID-19 vaccines, which scientists began developing in January 2020 once the first blueprint of the virus’s genome was produced. In research labs, the technology has become essential for a better understanding of pathogens and human evolution. But it is still not ubiquitous in medicine. That’s partly because of the price tag. While it costs scientists about $600 to perform sequencing, clinical interpretation and genetic counseling can drive the price up to a few thousand dollars for patients — and insurance doesn’t always cover this.
Another reason is that, for healthy people, there isn’t enough evidence of benefits yet to prove genome sequencing is worth the cost. Currently, the test is mostly limited to people with certain cancers or undiagnosed diseases — although in two recent studies, about 12 to 15 percent of healthy people sequenced had genetic variation that showed they had an increased were at risk for a treatable or preventable disease, indicating that sequencing may provide an early warning.
For now, researchers — not patients — will likely benefit most from low-cost sequencing. “We’ve been waiting a long time for this,” said Stacey Gabriel, chief genomics officer at the Broad Institute at MIT and Harvard, of the new improvements. “With greatly reduced costs and a greatly increased speed of sequencing, we can sequence many more samples.” Gabriel is not affiliated with Illumina, but the Broad Institute is a kind of Illumina power user. The institute has 32 of the company’s existing machines and has sequenced more than 486,000 genomes since its inception in 2004.
Gabriel says there are a number of ways researchers can apply additional sequencing power. One is increasing the diversity of genomic datasets, as the vast majority of DNA data comes from people of European descent. That’s a problem for medicine, because different populations can have different disease-causing genetic variations that are more or less common. “There really is an incomplete picture and a hampered ability to translate those lessons and apply them to the entire population diversity in the world,” says Gabriel.
