Updated: Mar 6
In 2003, a collaboration between U.S. government and private scientists resulted in the sequencing of the human genome for a total cost of $3 billion. This 13-year project, 20 years later, has led us to the footsteps of the $100 genome. Recent costs have hovered around $1000, which still represents a tremendous advancement over the past 20 years. However, for scientific advancement to take the next leap and deliver on the promises of true individual care, hypersensitive cancer screenings, and the understanding of, detection, and treatment of an enormous number of diseases, we need to take the next step in sequencing, and the $100 genome could be that step.
In recent months, several companies have come forward claiming dramatic advancements regarding the cost of sequencing, among the most noteworthy being Ultima Genomics and Illumina. Ultima Genomics, a scrappy startup, has claimed to have achieved the $100 genome, which it will make available to customers in the coming months. Illumina, the staunch behemoth, and leader of the industry, claims to also have lowered the cost significantly, at approximately $240. Ultima Genomics' method does away with expensive glass and regents in Illumina’s flow-cell method, and replaced it with a spinning silicon disc, giving the reads a circular pattern, rather than the stopping and starting, back and forth read pattern in Illumina’s machines. The spinning disc reads can gather data from the sample in a continuous fashion, again, as Ultima Genomics claims, dramatically increasing speed and lowering cost.
So, What Will a $100 Genome Get Us?
Sequencing is tied to a host of emerging technologies and fields. As mentioned above, it will lead to more individualized care for cancers and other diseases, but it will also speed up the pace of innovation itself. Imagine if a lab’s research budget was cheapened 10-fold, as Ultima Genomics claims to have achieved with genome sequencing going from $1000 to $100. This means scientists could potentially produce 10-times the data with the same budget. This glut of genomic data is required if scientists are to make good on prolific claims dating back to the original sequencing of the human genome.
The Democratization of Science
Cheaper science also means more scientists can partake, again, speeding the pace of innovation and discovery. Synthetic biology is a field characterized by synthetic DNA and manipulation of cells to produce everything from medicines, cancer gene therapies and cells that produce new materials for everything from aircraft to perfumes. Synthetic biology is full of tinkerers, scientists, and novices alike who often operate with low budgets and big dreams, to make life perform new tasks. This is a “hacker” culture, but for biology.
Parts Mining, Interactome Sequencing, Promoters and Terminators
A cell is nothing more than a combination of all its parts. Scientists still have much to learn about these parts, and how cell parts interact with adjacent cells (interactome), as well as how to manipulate these parts to perform desired tasks. Cheaper sequencing allows scientists to sequence and characterize individual parts of cells. Parts such as ribosomes which produce proteins, which act as enzymes, antibodies, structural material for cells and our bodies. Proteins are what DNA is encoding for, therefore if scientists can learn more about proteins, why they would yield incredible power. There are also other parts of cells and the DNA code itself, DNA sequences such as promoters and terminators which tell cells when to start and stop transcription of proteins. Think of them as on and off switches, with greater insight yielding greater control. Think about genes being turned off or on, turning up the intensity of a trait or turned down. These promoters and terminators yield meaningful differences between species and sexes, themselves.
DNA computing, a new field of study that has the potential to hold vast amounts of information, is crippled by sequencing costs. Think of storing billions of letters worth of information in DNA, and paying 10 times to access such information. DNA computing is in its infancy, but if it matures holds promise comparable to that of quantum computing in computational power. We will cover DNA computing in detail in an upcoming piece.
Still, this is all projection at this moment in time. The biotech industry has had its share of overhype leading to disappointment, a mighty achievement given all the of the biotechnology advancements in recent decades. When the human genome was sequenced, there was no shortage of hyperbole. At the time, many scientists drew a straight line from sequencing the human genome, to curing cancer, forgetting they had just spent $3 billion and more than a decade to sequence the human genome. While this was a monumental feat, it was miles away from the type of discovery being discussed given the costs.
Now, all exaggeration is not bad. Much of what turned out to be exaggeration simply demonstrates humans’ lack of ability to clearly predict the future. It is hard to blame one for not possessing that power. Without this type of boldness, would we have walked on the moon or sequenced the human genome in the first place? With full knowledge of future-casting folly, I will make another prediction: We are at the foothills of a new genomic revolution. Technologies and economies of scale are converging. Not only has DNA sequencing gotten tremendously cheaper and more efficient, but DNA printing and editing (ex: CRISPR) has as well. Combine that with the thousands of scientists and doctors with the knowledge to convert this newfound power into innovation. The vision of biology as a code akin to traditional computers, to be manipulated with power and precision, is dawning.