3 billion. That’s a large number, hard to fully wrap your head around. It’s roughly half of the world’s population, and the number of seconds the average human is alive for. It also happens to be the number of base pairs in the human genome, the underlying code of life that defines our physical existence. The information that makes us what we are occupies a mere 1.5 GB of space once collected, the same as the file size of a movie, but the real challenge is fully sequencing every base pair found in our DNA. The first successful effort to fully sequence an entire human genome, aptly named the Human Genome Project, took an international group of scientists $3 billion and over a decade to complete, resulting in a fully sequenced genome in 2003. In 2009, the cost of having your entire genome sequenced fell to $200,000. Now, for a mere $1000, you can have your entire genome sequenced in 3 days. For comparison, if other products declined in price at the same rate, a nice meal out would now cost a few pennies, and a flight to Europe a few dollars at most. And if this were not enough, the company at the forefront of this rapid innovation now asserts that by 2027, one’s genome can be sequenced in under an hour for less than $100.
Meet Illumina, the San Diego-based gene sequencing company dedicated to mapping gene variations associated with health, disease, and drug response, which they call Next-Generation Sequencing (NGS). To date, their devices have mapped the majority of fully-sequenced human genomes– nearly 1.6 million, and Illumina projects for this number to double every 12 months as their technologies grow more sophisticated, efficient, and accessible.
So why do we care about being able to quickly and cheaply map the genome? As NGS has helped sequencing costs drop significantly, doctors have begun to turn to personalized medicine, a field of treat which uses individual patients’ genetic information to improve their care.
For example, research on the Human Leukocyte Antigen (HLA), an extensively-studied molecule important to immunity whose genetic position is linked to over 100 autoimmune diseases, has been greatly bolstered by NGS. Given its complex nature, HLA cannot be thoroughly sequenced using solely classical sequencing methods, but with NGS, we are closer to understanding the intricacies with the HLA genes and the role they play in autoimmune disease. By being able to identify the meanings of individual variations within the HLA gene, we can more effectively identify and treat the cause of autoimmune disease on a patient-by-patient basis. With this knowledge, future treatments can more specifically target the exact areas of interest, maximizing the efficacy of treatment and minimizing the likelihood of unnecessary side-effects.
However, scientists believe they will need to have data from millions of genomes in order to thoroughly identify clinically-significant genomic patterns. With faster and more-accessible genome sequencing, researchers have more hope that they can gather the data they need to truly start advancing personalized medicine.
In addition, gaining an understanding of the genome and the meaning behind particular sequences can put us on the track to understanding why certain diseases occur, predicting global outbreaks before they happen, and even working to secure the global food supply. All contained within a movie-sized file of information, only the information here has the ability to predict your life story. Illumina’s work is helping us to learn more about ourselves, so that we can spend more time building the stories of our lives than suffering from the stories written within our DNA.