genetics

What will the $100 genome mean?

Breakthroughs
What will the $100 genome mean?

A company has slashed the cost of assessing a person's genome to just $100. With lower costs - and as other genetic tools mature and evolve - a wave of new therapies could be coming in the near future.

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In May 2022, Californian biotech Ultima Genomics announced that its UG 100 platform was capable of sequencing an entire human genome for just $100, a landmark moment in the history of the field. The announcement was particularly remarkable because few had previously heard of the company, a relative unknown in an industry long dominated by global giant Illumina which controls about 80 percent of the world’s sequencing market.

Ultima’s secret was to completely revamp many technical aspects of the way Illumina have traditionally deciphered DNA. The process usually involves first splitting the double helix DNA structure into single strands, then breaking these strands into short fragments which are laid out on a glass surface called a flow cell. When this flow cell is loaded into the sequencing machine, color-coded tags are attached to each individual base letter. A laser scans the bases individually while a camera simultaneously records the color associated with them, a process which is repeated until every single fragment has been sequenced.

Instead, Ultima has found a series of shortcuts to slash the cost and boost efficiency. “Ultima Genomics has developed a fundamentally new sequencing architecture designed to scale beyond conventional approaches,” says Josh Lauer, Ultima’s chief commercial officer.

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David Cox
David Cox is a science and health writer based in the UK. He has a PhD in neuroscience from the University of Cambridge and has written for newspapers and broadcasters worldwide including BBC News, New York Times, and The Guardian. You can follow him on Twitter @DrDavidACox.
Genetic Testing Companies Are Facing a Racial Bias Problem in Disease Risk Tests

The large genetic studies underlying certain disease risk tests have primarily been done in populations of European ancestry, limiting their accuracy.

Earlier this year, California-based Ambry Genetics announced that it was discontinuing a test meant to estimate a person's risk of developing prostate or breast cancer. The test looks for variations in a person's DNA that are known to be associated with these cancers.

Known as a polygenic risk score, this type of test adds up the effects of variants in many genes — often in the dozens or hundreds — and calculates a person's risk of developing a particular health condition compared to other people. In this way, polygenic risk scores are different from traditional genetic tests that look for mutations in single genes, such as BRCA1 and BRCA2, which raise the risk of breast cancer.

Traditional genetic tests look for mutations that are relatively rare in the general population but have a large impact on a person's disease risk, like BRCA1 and BRCA2. By contrast, polygenic risk scores scan for more common genetic variants that, on their own, have a small effect on risk. Added together, however, they can raise a person's risk for developing disease.

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Emily Mullin
Emily Mullin is a science and biotech journalist whose work has appeared in The Washington Post, New York Times, Wall Street Journal, Scientific American, National Geographic and Smithsonian Magazine.
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Genomic Data Has a Diversity Problem, But Global Efforts Are Underway to Fix It

Genetic data sets skew too European, threatening to narrow who will benefit from future advances.

Louis Reed on Unsplash

Genomics has begun its golden age. Just 20 years ago, sequencing a single genome cost nearly $3 billion and took over a decade. Today, the same feat can be achieved for a few hundred dollars and the better part of a day . Suddenly, the prospect of sequencing not just individuals, but whole populations, has become feasible.

The genetic differences between humans may seem meager, only around 0.1 percent of the genome on average, but this variation can have profound effects on an individual's risk of disease, responsiveness to medication, and even the dosage level that would work best.

Already, initiatives like the U.K.'s 100,000 Genomes Project - now expanding to 1 million genomes - and other similarly massive sequencing projects in Iceland and the U.S., have begun collecting population-scale data in order to capture and study this variation.

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Farhan Mitha
Farhan Mitha is a freelance science writer based in London. He regularly writes about biotechnology, synthetic biology, and natural history, and is currently studying for a master's degree in Evolutionary Genomics. Find him on Twitter @FarhanMitha.
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Eric Turkheimer
Eric Turkheimer is a professor of psychology at the University of Virginia. From 2003 to 2008 he was Director of Clinical Training. Turkheimer has been an Associate Editor for Psychological Assessment, is currently an Associate Editor of Behavior Genetics and has served on the editorial boards of Journal of Personality and Social Psychology and Perspectives on Psychological Science. In 2009, he was awarded the James Shields Memorial Award for outstanding research in Behavioral Genetics. He is a past President of the Behavior Genetics Association. His current research includes detection of G by E interactions in twin studies of intelligence, development of statistical methods for analyses of children of twins, and the use of twins to establish quasi-experimental control in studies of developmental associations between parenting behavior and offspring outcomes in adolescence. His overarching research goal is to explore the possibilities and limitations of behavior genetics as a means of expanding the scope and rigor of human behavioral science.