Longevity Briefs: Towards A $100 Genome

Longevity briefs provides a short summary of novel research in biology, medicine, or biotechnology that caught the attention of our researchers in Oxford, due to its potential to improve our health, wellbeing, and longevity.

Why is this research important: Scientists dream of a future of genome-based personalised medicine, in which each patient receives preventative or curative interventions that are specifically designed for them. To make this a reality, we need fast, accurate and affordable genome sequencing – the ability to cheaply read a person’s genetic code in order to determine things like what diseases they are most at risk from, how they might respond to different treatments, or even to alter their genetic risk factors with gene therapy. While sequencing the human genome now takes only a tiny fraction of $95 million it took in 2001, at $560 it’s still too expensive to be used routinely in healthcare.

What did the researchers do: Biotech company Ultima Genomics claims that it has technology that can sequence an entire human genome for just $100. Like most current genome sequencing, Ultima uses an approach called sequencing by synthesis in which the DNA is broken into many short fragments, which are then copied many times and read individually before the information is pieced back together to obtain the entire sequence. According to Ultima, their technique differs in that they read much longer sequences of DNA at a time, and use a different sequencing chemistry to that of other companies. It’s not clear how Ultima arrived at the figure of $100 per genome, but more information is expected to be available next week.

Key takeaway(s) from this research: A $100 genome would be a significant price drop that would lower the threshold for cost-effective genome sequencing in the clinic. Ultima’s sequencing technique isn’t without its problems: it struggles to accurately count bases (the ‘genetic letters’ G, A, C and T) when the same base is repeated many times, though the company is working on machine learning algorithms that can help with this. It’s also going to take a while before Ultima’s sequencing instruments reach the lab, since around 90% of all sequencing is currently done on instruments made by a different company: Illumina. If nothing else, this development may force competitors to lower their prices and accelerate the release of their own new sequencing technologies.