Dame Sally Davies

Professor Dame Sally Davies (Credit: NHS Confederation)

Let’s do a little throwback: The year is 1990, MC Hammer’s “U Can’t Touch This” is playing on the radio, and scientists are slowly starting the journey of successfully sequencing the first human genome. 13 years and hundreds of millions of dollars later, in 2003, it was finally completed. 

Sequencing the very first genome cost $3 billion back then, now it cost $1,000, and companies are working on bringing the price down to just $100. 

Last year, Sally Davies, UK Medical Chief stressed that genomic testing should become a normal part of NHS care, initially starting with cancer patients and those with rare diseases.

Dr. Matthew Hurles, head of human genetics at the Wellcome Sanger Institute, is currently leading a study that involves working together with 24 different regional genetic centres throughout the United Kingdom and Ireland, to which children with severe developmental disorders are referred if their paediatrician suspects an underlying genetic cause, as reported by the Financial Times. 

Dr. Hurles told FT that the decrease in costs by many orders of magnitude has “transformed all of our work in genetics in whatever discipline … [It] just makes experiments possible that weren’t possible before”. 

In the past four years, approximately 13,000 families have been recruited, and around 32,000 exomes have been carried out. 

“We can diagnose about 35% to 40% of the kids that we sequence with known disorders,” Dr. Hurles said, according to FT. The reason, he says, “is in new disorders that we and others have identified over that three-year period.” Three years ago, just 27% of children were being diagnosed. 




As we learned during the Festival of Genomics in London 2018, the NHS is already overstretched financially. But Dame Sally insists that learning more about a patient’s genetic makeup will lead to a better and more cost-effective approach, that will ultimately spare resources in the system. 

NHS Chairman, Malcolm Grant revealed during the Festival that at the end of 2017, the 100,000 Genome Project had successfully sequenced 41,582 genomes, showing a 4-5x increase in the diagnostic yield for rare diseases, and 65% actionability in cancer, thus proving a proof of concept that the project is definitely transforming healthcare.

“It’ll change dramatically. It’ll change because we’ve gone from the $10,000 genome to the $1,000 genome. We will have the $100 genome, or cheaper… and we will understand, much more, what the different mutations mean. We’re at the beginning of our understanding. It’s going to be an exciting decade,” Dame Sally said, according to FT.