In 1997, the movie Gattaca gave a glimpse of what a post genome revolution world could look like. Today, companies such as Roche, Hologic, Illumina, Oxford Nanopore Technologies, ThermoFisher Scientific, 23andMe, Color, and Helix are fueling the genome revolution and enabling the opportunity to take a journey into our DNA to seek out the cause of current and future disease. The information we get from sequencing our genome gives us insight into our ancestors, genetic challenges our progeny will face, and perhaps even allow us to decide whether we are genetically superior or inferior. The genome revolution brings both an era of hope where our genetic information will help us live longer and an era of fear in the event the information is used against us, like the main hero in the movie Gattaca who had to overcome genetic discrimination to fulfill his dream of flying into space. In this article, I will focus on the forces that are fueling the genome revolution: the drive for precision medicine, an interest in consumer genomics, and novel DNA sequencing technologies.
The diagnostics of tomorrow will be precision medicine – healthcare treatment decisions based on individualized genetic content. Today, PCR, hybridization, and IHC methodologies enable determination if an infectious agent is present, a genetic mutation exists, or a protein is being under or over expressed and the results then used to make treatment decisions. In the world of precision medicine, nucleic acid sequencing will find the underlying nucleic acid changes responsible for the cause of disease to enable choice of targeted therapeutic approaches using artificial intelligence. The therapy may even employ gene editing to edit out the genetic mutations. A recent article by WHO stated that the world is running out of antibiotics. As an example, in the case of infectious disease, it is not enough detecting MRSA or Gonorrhea but also knowing what antibiotic resistance these infectious agents have developed. Additional genetic information from DNA sequencing will enable fighting super bugs with the right drug. Using the right drug will lead to improved clinical outcomes. While genomic information will be required for precision medicine, it will not be enough to sustain it. Precision medicine will require advancement in other omics, such as proteomics, glycomics, lipidomics, and metabolomics.
New entrants in the genomics space such as Anceestry.com, 23andMe, Color, and Helix are directly targeting the consumer. Their goal is to allow the consumer to own their genome information and use it to satisfy their curiosity of who they are, get a sense of what genotypes are driving their observed phenotypes, and/or to peer into the Orb of Destiny to understand what genetic diseases they are susceptible to. This knowledge can then be used to make lifestyle decisions or changes to change their fate. If the cost of healthcare is to come down, early detection or prevention of disease would be the first line of defense. Color, a new kid on the genomics block, is offering genetic tests that focus on hereditary diseases. Aside from the consumer, they offer their services to employers interested in enabling their associates to genetic health information. Helix, a startup spun out of Illumina, will sequence the genome from a saliva sample and store the genetic info which can then be used by Helix and other application providers to offer insights into attributes such as ancestry, wine preferences, fitness routine customized to your DNA, and food preferences. Still in its infancy, consumer genomics has met critics in the scientific community on the validity and usage of such information. Irrespective of the criticism consumer genomics has received, consumer genomics will be a key driver of correlation of genetic information with disease and consumer preference states and will play an important role in the road to precision medicine.
Any discussion on the genomics revolution is incomplete without its key players enabling collection of DNA information at the fastest pace in history. These are the DNA sequencing companies, with Illumina in the forefront and ThermoFisher, Oxford Nanopore, and Pacific Biosciences not too far behind. Today, it costs in the range of $500 to $1000 to sequence a human genome. Just 15 years ago, it cost $100,000,000 to sequence a human genome. The price required for its use in routine diagnostics is likely in the $50 range. Single molecule sequencing technologies such as nanopore based DNA sequencing are most likely to overcome the gap that is left. Pacific Biosciences and Oxford Nanopore have recent published patents using nanopore sequencing. Nanopore sequencing patents from Pacific Biosciences show a shift from their current SMRT technology. Oxford Nanopore sells their portable MinION sequencer for $1000 – inexpensive enough for a high school science lab. That is cheaper than the cost of IPhone X. Last year, Roche terminated its relationship with Pacific Biosciences, suggesting that it is close to commercializing Genia’s semiconductor based nanopore sequencing platform for diagnostic use. Illumina has made improvements to its sequencing by synthesis chemistry and published a patent application for sequencing by orthogonal synthesis. With several companies in this race and many more in stealth mode, it is likely that the next technology could get the cost of sequencing to $50 per genome.
Advances in DNA sequencing will enable precision medicine and consumer genomics on a grand scale, and fuel the genome revolution forward. By enabling sequence dependent therapeutics and sequence dependent life style changes, humans will finally be able to control their own fate. Along the way, the world will have to deal with the ethics and morality of how genetic information is regulated; otherwise, we may very well find ourselves in the world of Gattaca.