Enlarge / Illumina says its NovaSeq X machine will bring sequencing price down to $200 per human genome.
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. It used to take a lot of money, time and effort to determine the order of all these letters. The Human Genome Project lasted 13 years and thousands of researchers. The final cost: $2.7 billion.
This 1990 project ushered in the age of genomics, helping scientists unravel the genetic drivers of cancer and many inherited diseases, and fueled the development of home DNA testing, among other advances. Next, researchers began sequencing other genomes: animal, plant, bacterial, and viral. Ten years ago, it cost researchers about $10,000 to sequence a human genome. A few years ago that dropped to $1,000. Today it’s about $600.
Now sequencing gets even cheaper. At an industry event in San Diego today, genomics giant Illumina introduced what it calls its fastest and most cost-effective sequencing machines yet, the NovaSeq X-Series. The company, which controls about 80 percent of the world’s DNA sequencing market, believes its new technology will bring costs down to just $200 per human genome while enabling double-speed readout. Illumina CEO Francis deSouza says the more powerful model will be able to sequence 20,000 genomes a year; his current machines can do about 7,500. Illumina will start selling the new machines today and ship them next year.
“As we look to the next decade, we believe we are entering the era of genomic medicine that is becoming 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.”
Enlarge / Reagents and Buffer Cartridges.
Sequencing has led to genetically targeted drugs, blood tests for early detection of cancer, and diagnoses for people with rare diseases who have long sought answers. We can also thank the sequencing of the COVID-19 vaccines, which scientists began developing in January 2020, once the first blueprint of the virus genome had been established. In research laboratories, the technology has become indispensable for a better understanding of pathogens and human evolution. But it is not yet ubiquitous in medicine. That’s partly because of the price tag. While it costs scientists around $600 to do sequencing, clinical interpretation and genetic counseling can push the price up to thousands of dollars for patients — and insurance doesn’t always cover it.
Another reason is that for healthy people, there is not yet enough evidence of benefit to prove that genome sequencing is worthwhile. For now, 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 whose genomes were sequenced had a genetic variation that showed they were at increased risk for had a treatable or preventable disease, indicating that sequencing can provide early warning.
For now, researchers – not patients – are likely to benefit the most from cheap sequencing. “We’ve been waiting for this for a long time,” says Stacey Gabriel, chief genomics officer at MIT and Harvard’s Broad Institute, of the new improvements. “With greatly reduced costs and greatly increased sequencing speed, we can sequence many more samples.” Gabriel is not affiliated with Illumina, but the Broad Institute is something of an 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 to increase the diversity of genomic datasets, as the vast majority of DNA data comes from people of European descent. This is a problem for medicine because different population groups may have different disease-causing genetic variations that are more or less common. “There’s really an incomplete picture and a hampered ability to translate and apply these findings to the entire diverse population of the world,” says Gabriel.