Home Gaming The period of quick, low cost genome sequencing is right here

The period of quick, low cost genome sequencing is right here

The period of quick, low cost genome sequencing is right here


Illumina says its NovaSeq X machine will get the price of sequencing down to $200 per human genome.
Enlarge / Illumina says its NovaSeq X machine will get the value of sequencing right down to $200 per human genome.


The human genome is manufactured from greater than 6 billion letters, and every individual has a novel configuration of As, Cs, Gs, and Ts—the molecular constructing blocks that make up DNA. Determining the sequence of all these letters used to take huge quantities of cash, time, and energy. The Human Genome Project took 13 years and hundreds of researchers. The last value: $2.7 billion.

That 1990 challenge kicked off the age of genomics, serving to scientists unravel genetic drivers of most cancers and plenty of inherited ailments whereas spurring the event of at-home DNA assessments, amongst different advances. Next, researchers began sequencing extra genomes: from animals, crops, micro organism, and viruses. Ten years in the past, it value about $10,000 for researchers to sequence a human genome. A number of years in the past, that fell to $1,000. Today, it’s about $600.

Now, sequencing is about to get even cheaper. At an trade occasion in San Diego right this moment, genomics behemoth Illumina unveiled what it calls its quickest, most cost-efficient sequencing machines but, the NovaSeq X sequence. The firm, which controls round 80 p.c of the DNA sequencing market globally, believes its new know-how will slash the associated fee to simply $200 per human genome whereas offering a readout at twice the velocity. Francis deSouza, Illumina’s CEO, says the extra highly effective mannequin will be capable to sequence 20,000 genomes per yr; its present machines can do about 7,500. Illumina will begin promoting the brand new machines right this moment and ship them subsequent yr.

“As we look to the next decade, we believe we’re entering the era of genomic medicine going mainstream. To do that requires the next generation of sequencers,” deSouza says. “We need price points to keep coming down to make genomic medicine and genomic tests available much more broadly.”

Reagents and buffer cartridges.
Enlarge / Reagents and buffer cartridges.


Sequencing has led to genetically focused medicine, blood assessments that may detect most cancers early, and diagnoses for folks with uncommon ailments who’ve lengthy sought solutions. We may also thank sequencing for the COVID-19 vaccines, which scientists began creating in January 2020 as quickly as the primary blueprint of the virus’s genome was produced. In analysis labs, the know-how has turn out to be important for higher understanding pathogens and human evolution. But it nonetheless isn’t ubiquitous in medication. That’s partially due to the value tag. While it prices round $600 for scientists to carry out sequencing, medical interpretation and genetic counseling can drive the value to some thousand {dollars} for sufferers—and insurance coverage doesn’t all the time cowl it.

Another purpose is that for wholesome folks, there’s not but sufficient proof of advantages to show that genome sequencing might be price the associated fee. Currently, the take a look at is generally restricted to folks with sure cancers or undiagnosed diseases—though in two latest research, round 12 to 15 p.c of wholesome folks whose genomes had been sequenced ended up having a genetic variation that confirmed they’d an elevated danger of a treatable or preventable illness, indicating that sequencing could present an early warning.

For now, researchers—not sufferers—will doubtless profit most from low cost sequencing. “We’ve been waiting for this for a long time,” says Stacey Gabriel, chief genomics officer on the Broad Institute of MIT and Harvard, of the brand new enhancements. “With greatly reduced costs and greatly increased speed of sequencing, we can sequence way more samples.” Gabriel just isn’t affiliated with Illumina, however the Broad Institute is one thing of an Illumina energy consumer. The institute has 32 of the corporate’s current machines and has sequenced greater than 486,000 genomes because it was established in 2004.

Gabriel says there are a selection of ways in which researchers will be capable to apply added sequencing energy. One is to extend the range of genomic datasets, provided that the overwhelming majority of DNA knowledge has come from folks of European descent. That’s an issue for medication, as a result of completely different populations might need completely different disease-causing genetic variations which might be roughly prevalent. “There’s really an incomplete picture and a hampered ability to translate and apply those learnings to the full population diversity in the world,” Gabriel says.



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