Genetics has come a long way since Crick and Watson were credited with the discovery of the double helix structure of DNA in 1953. Collaborating with Rosalind Franklin and Maurice Wilkins, the blueprint to the programming language of life revolutionised biology and medicine.

But our genes are not infallible. Mutations in our DNA enable evolution and diversity, but they are also responsible for genetic illness and limitations. At least for the time being. With advancements in technology, could the end be in sight? Might the 21st century be when humanity eradicates genetic disadvantages for good?

When the Human Genome Project produced the first sequence of the human genome in 2003, it cost $300 million ($450m in today’s money). As part of a broader, $2.7 billion project that took 13 years to complete, the project measured 92% of the human genome. $300 million in costs became a mere $600 by 2022, when the remaining 8% was sequenced. The era of Whole Genome Sequencing had arrived.

“It's is going to completely change how we think about drug development.”

— Joel Fellis, VP Product Management of Sequencing Platforms, Illumina

A single human genome consists of roughly 3.2 billion base pairs. But to really leverage the potential of Whole Genome Sequencing, then thousands of those genomes – if not millions – need to be analysed from individuals and communities across the planet. That makes the cost of sequencing absolutely pivotal. The impact of cheap sequencing will be revolutionary.

“It's is going to completely change how we think about drug development, and will take the pharmaceutical industry with it,” says Joel Fellis, VP of Product Management of Sequencing Platforms at Illumina, a genetics company offering whole genome sequencing for $200, another significant price reduction in just a couple of years.

Genetic diseases cast a long shadow. They affect more than 350 million people and of over 6,000 known disorders, a full 95% lack approved treatment. The challenge begins at diagnosis. “It’s such a complex and time-consuming process,” Joel explains, “that geneticists refer to it as an ‘odyssey’.”

The average length of time from the onset of symptoms to an accurate diagnosis for genetic disease is five years. Many never even see a diagnosis. And if they do, it’s rarely the most accurate.

“The genomic drivers of different cancers are varied and are often quite different,” notes Joel. Even the 'same' cancer, like lung cancer, is the product of numerous DNA mutations that aren't quite identical across every person. The complex variation between every instance cancerous tumour is part of what has made it such a stubborn disease to cure.

Genome sequencing can help identify the best treatment based on the genetic profile of that specific patient's tumour. “By understanding the genetic make-up of a tumour,” Joel says, “researchers and clinicians can look for actionable alterations that can be molecularly matched with targeted therapies.”

The theme of precision treatment comes up numerous times during our conversation: the right treatment for the right patient at the right time, tailored just for them. Genome sequencing gives healthcare the upper hand, helping doctors find hidden mutations and hidden problems; identifying the lone protein anomaly in a sea of three billion norms. How many lives would be saved if it was easy to diagnose the exact condition, and find the perfect treatment in days, rather than years?

Using this tech, gene editing tools like CRISPR make it easy to edit the DNA of humans and other living organisms, changing everything from your eye colour to your personality. Parents are already using genome editing to cure genetic disorders in their children; in February 2023 the UK's NHS cured a baby from the previously-fatal disorder metachromatic leukodystrophy (MLD).

“How can we use this technology to solve everyday problems?”

— Albert Anis, co-founder, ValleyDAO

But we’re not there yet. Most current genomic datasets suffer from inherent bias. The majority of recorded genetic data is from individuals of European ancestry. To fully seize the power of human genome sequencing, scientists need data from diverse genetic pools — across continents, ethnicities, and backgrounds.

Cheaper sequencing makes this kind of diversity far more achievable. According to Joel, “over the course of last year Illumina customers developed the data equivalent of eight genomes every minute.” A huge improvement on one every 13 years.

Affordable and accessible genome sequencing has implications far beyond medicine. Albert Anis is the co-founder of ValleyDAO, a decentralised funding organisation for synthetic biology research. “How can we use this technology to solve everyday problems beyond human health?” he reflects. “We can look at biology as a climate technology, a technology that can produce alternative foods, and much more.”

From gaining insight into our ancestors, evolution, and historical migration by analysing ancient DNA, to sequencing the DNA contained in wastewater to track epidemics, cheap genome sequencing has enormous potential. In the food chain, it can help us monitor foodborne pathogens like salmonella and E. coli, improving food safety. In agriculture, it can be used to modify food (or even livestock) to feed the planet’s growing population, like creating drought-resistant maize, barley, and wheat.

ValleyDAO’s portfolio, for example, includes projects to create synthetic palm oil from yeast, research on biodegradable alternatives to long-lasting chemicals, and endeavours to harness the carbon in carbon dioxide to create new biomaterials that could replace traditional plastics.

Then there is the climate question. From helping us create biofuels and organic materials to giving us new, better ways to monitor ecosystem health, genome sequencing is a powerful weapon in our fight against climate change. The cheap genome project – genetic insight gained cheaply and at unprecedented scale – really does have the potential to improve the lives of millions. Watson, Crick, and all those who helped in the groundbreaking work seventy years ago, would be happy.