Genome sequencing - determining the order of the DNA's bases and thereby decoding the genetic information contained therein - has long been considered the holy grail of medical science for the potential in devising new treatments it holds. Now, two Cambridge scientists have won a prestigious prize for their next generation sequencing (NGS) technology, highlighting the progress made in the sector and opening new avenues for personalized treatments for deadly conditions like cancer in the future.
Professors Sir David Klenerman and Sir Shankar Balasubramanian were awarded the Millennium Technology Prize after their work on NGS paved the way for a "million-fold improvement" in the speed and cost of genome sequencing. That breakthrough has facilitated unprecedented scalability in the application of NGS, with an estimated one million human genomes now sequenced each year - a far-cry from when the first effort to sequence the human genome took 10 years and cost one billion dollars.
The ability to map a person's genomic structure comprehensively within a short time, coupled with rapid advances in machine learning algorithms and artificial intelligence (AI), allows scientists to analyze the massive amounts of data it contains in order to identify certain health conditions that are caused by specific genetic mutations. It also makes it possible for doctors to accurately define a tailor-made treatment plan for each afflicted individual, thus potentially enhancing the odds of overcoming disease such as cancer in the foreseeable future.
Faster - and more affordable
When the first human genome was successfully sequenced at the beginning of the new millennium, it was the product of billions of dollars of investment and over a decade of research. Thanks to the sophisticated new technology underpinned by Sir Klenerman and Sir Balasubramanian's work, it's now possible to sequence 48 genomes in 48 hours at a cost of just $1,000 per genome. That has allowed the technique to be deployed on a mass scale and given research programs like the Cancer Genome Atlas the ability to amass data on over 20,000 primary samples of more than 30 different strains of cancer.
As a result, the way in which the medical community regards cancers has changed dramatically. As recently as 10 years ago, the only differentiations made between various forms of lung cancer were whether they were small cell or non-small cell. Thanks to DNA sequencing, lung- and other cancers can now be defined by the presence (or absence) of more than 30 genetic mutations in their makeup. This not only provides insights into what might cause a patient's cancer and how it could develop in the future, but also facilitates the administration of individually tailored treatment programs.
For example, US-based Invitae, specialized in genetic testing for a broad spectrum of hereditary conditions from cancer to neurodegenerative disorders, has been a pioneer in making gene testing more cost-effective and accessible. The company is working on the basis that early access to genetic testing can drastically increase the speed of diagnostics and, consequently, enables treatment based on an individual's specific needs that was previously impossible. Indeed, Invitae's technology and approach has already shown efficacy in improving "genetic-informed care" to a greater number of people
Advances catch imagination of investment funds
The success of the technology has sparked interest from investors, with Invitae raising $1.15 billion in 2021 in an investment drive led by Japanese conglomerate SoftBank and its asset management division SB Management. The cash injection will be used for advancing research and development of diagnosis technologies, which could eventually improve understanding of how certain populations are predisposed to specific diseases.
With assets valued at more than $300 billion, SoftBank has considerable financial clout that has been focused on life science and biotech. SB Management also recently pledged to pour a further $900 million into the California-based firm Pacific Biosciences (PacBio), an investment coming on top of the 6% stake that SB Management acquired in PacBio earlier this year, giving them significant sway over the company's direction moving forward. PacBio's popularity has exploded over the last 12 months, as their share prices appreciated elevenfold since July 2020 to reach an overall market valuation of $7.4 billion earlier this year.
It's not difficult to see why. Through their pioneering single-molecule, real-time sequencing process, PacBio have engineered a way to extend genomic reading exponentially. Their average SMRT cell yield is over one billion bases per cell, offering far lengthier reads than conventional second-generation sequencing (SGS) technologies. This makes their technology invaluable for deepening research and overcoming persistent challenges in the areas of epigenetics, genomics and transcriptomics when aligned with AI and machine learning. For smaller labs which might not have access to the processing power necessary to handle such complex processes, PacBio's technology can be combined with shorter reads to produce more affordable and scalable hybrid techniques.
Cancer in the crosshairs
What this means in practical terms is that the medical community's arsenal in the fight against cancer is being upgraded and expanded with every new scientific breakthrough. Researchers can now create tailor-made molecular responses to therapies in a pioneering departure from the standard approach to cancer care where a blanket strategy is being applied as a treatment and where success is a gamble.
Although there is a long way still to go in developing and refining the technologies discovered by Sir Klenerman and Sir Balasubramanian, companies like Invitae and PacBio are pioneering viable solutions for prevention, diagnosis and treatment of an age-old problem that has claimed countless premature lives across the globe.
The scientific and technological nous of industry leaders like those two companies, backed by powerful investors enabling further research, are the strongest weapons ever wielded in attempting to overcome cancer. As the technology progresses, it's only likely to become even more affordable and effective, meaning personalized cancer treatment plans could be par for the course before too long. Should this individualized approach bear fruit on a consistent basis, it may even be possible to dare to dream that the human race could receive the all-clear on cancer in the not-too-distant future.