The era of fast, cheap genome sequencing is here

Each person has a unique set of As, Cs, Gs, and Ts that make up the human genome. It used to take a lot of money, time, and effort to figure out the sequence of all those letters. Thousands of researchers worked on the Human genome project. There was a final cost of over $2 billion.

The 1990 project helped scientists uncover genetic drivers of cancer and many inherited diseases, as well as spur the development of at- home DNA tests. Researchers began to sequence more genomes from plants, animals, andbacteria. Ten years ago it cost a lot to sequence a human genome. That dropped to $1,000 a few years ago. It's about $600 today.

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.

We believe we are about to enter the era ofgenomic medicine going mainstream. The next generation of scenographers is required to do that. We need price points to come down so that more people can use genomic medicine.

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Blood tests that can detect cancer early, and diagnoses for people with rare diseases who have been looking for answers, are just some of the things that have been made possible by the use of Sequencing. The COVID-19 vaccine was developed as soon as the first blueprint of the virus's genome was produced. The technology has become essential in research labs. It isn't very common in medicine. The price tag is a factor. Insurance doesn't always cover the cost of genetic counseling, and clinical interpretation can drive the price to a few thousand dollars for patients.

There isn't enough evidence for healthy people to know if genome decoding will be worth the cost. Currently, the test is mostly limited to people with certain cancers or undiagnosed illnesses, although in two recent studies, around 12 to 15% of healthy people whose genomes were sequenced ended up having a genetic variation that showed they had an elevated risk of a preventable disease.

Researchers will benefit the most from cheap Sequencing. The Broad Institute of MIT and Harvard has been waiting for this for a long time. We can sequence a lot more samples with reduced costs and increased speed of decoding. The Broad Institute is a power user of Illumina. Since it was established in 2004, the institute has been able to sequence more than 486,000 genomes.

Gabriel says that researchers will be able to apply added power. The majority of the data in the genomes comes from people of European descent. Different populations may have different disease-causing genetic variations that are more or less common. Gabriel says there is an incomplete picture and a hampered ability to translate and apply learnings.