23andMe first debuted direct-to-consumer tests meant to predict disease in 2013, but the U.S. Food and Drug Administration quickly clamped down on that and told the company to stop marketing the tests, saying they could be inaccurate and confusing to consumers.
However, the company was vindicated earlier this year when the FDA revised that decision, declaring 23andMe could sell tests that estimate customers’ risk of certain disease, as long as they don’t purport to diagnose any disease.
Early this year, Illumina, the manufacturer of most of the world’s DNA sequencers, unveiled its newest, most efficient machine, NovaSeq, which can sequence as many as 48 entire human genomes in two and a half days, according to the company. Illumina claims the ultra-fast machine will usher in the $100 genome and will open the door for researchers to cheaply sequence DNA in search of rare genetic variants that cause disease.
Sophia Genetics is taking a big-data approach to DNA. The Swiss company is using AI algorithms to continuously learn from thousands of patients’ genomic data. Partnering hospitals take patient samples and run them through a DNA sequencer. The Sophia system sifts through that genetic information to identify mutations in a patient’s genome. The technology is said to quickly and more accurately diagnose conditions like cancer, metabolic disorders, and heart disease.