By advancing our knowledge about diseases and how we can predict effects of medicine more accurately, genomics has the power to positively impact medicine so that treatments are precise, targeted and individualized. Much progress has been made in genomics sequencing technology and practices over the last two decades. Similarly, the potential of genomics in transforming drug discovery and development has been shown in a handful of disorders already, for which treatment has been revolutionized, bringing hope and health where before there was none.
Jonathan Picker, Anuva’s co-founder, has spent over 25 years in clinical and scientific Genetics. He is an affiliate at Harvard Medical School. This is his perspective the future of genomics.
With these incredible early successes of genomics and the phenomenal scientific work being done today across the globe, there is great hope for the future. I believe that genomics in drug discovery and development will unfold on myriad dimensions, but all guided by one basic theme: genomics represents a revolution in advancing our knowledge about biology.
Before the advent of genomics, with a few exceptions, treatments were based on the problems that are seen and not the root cause, which was previously invisible to science.
Genomics will keep advancing our knowledge
With new knowledge from genomics, we are now starting to uncover fundamental elements that tell us why one person may have a disorder when another does not. In addition and perhaps more importantly, in understanding these fundamentals, we can develop treatments that act before the cascade of damage.
However, despite years of successful scientific work, we are still in the nascent stages of applying the power of genomics to generate new knowledge of diseases and treatments. That’s because nature, especially humans, are biologically extremely complex. The stunning increase in cost-time efficiency of genome sequencing has accelerated explorations and the world will now keep progressing for a long time to come.
Science will seek genomic data from diverse sources
Our genome is complex. The number of possible variations is greater than the estimated number of atoms in the universe and that does not even take account of the multiplicity of environmental, epigenetic, and other factors that impact the function of genes and other genetic elements within the genome. The challenge may appear insurmountable, fortunately history and society come to our rescue.
With human migration to different environments and the development of cultures that tend to genetically isolate different groups from their neighbors, diversity amongst humans evolved. This diversity, from an evolutionary perspective, favors survivability within a given environment and is driven by genetic mutations. These mutations are often a tradeoff sacrificing some traits to enhance others. As a result, there are differences in disease susceptibility. as well as to the consequences and even to treatments between different people. These differences can be identified, quantified and compared to the genetics, allowing a shortcut past the Gordian complexity of permutations.
As we tease out the pathways highlighted by this diversity, the biological threads that lead away from health towards disease will be laid bare. This serves not just to understand and target for treatment but also as a map of each individual’s disease proclivity. The understanding not only informs the development of targeted treatments but also who would benefit from them.
The pharma sector will accelerate investment in genomics
The major pharma companies already incorporate genomics researchers. Given the initial success in drug discovery as well as development, genomics improves the opportunities for the two primary pharma targets: discovering novel drug classes and reducing failure rate.
But it turns out that we can do more with Genomics:
The ability to determine an individual’s needs and proactively intervene is the realization of personalized medicine. By including diverse populations as discussed earlier, not only will pharma companies resolve many of the roadblocks but they will increase the market size with consumers for the new medicines.
Further, no longer will disease consistently surprise us and no longer will treatment be reactive and generic. The ability to decode risk, anticipate and proactively intervene will result in as profound a paradigm shift in healthcare as anesthesia or antisepsis. Doctors and patients will move from uncertainty to understanding and, with the realization of proactive targeted treatments, medical care will move from feared to anticipated.
There will be far greater private investment in genomics
Obviously, the spectacular evolution of genomics has required massive investments. As typical with science, these investments came largely from the public sector initially, followed by private sector investments. These investments had and continue to have purpose: to help improve human life, especially by combating diseases ever more strongly.
Now that the cost of genomic sequencing has reduced to a small part of the overall costs of R&D, genomics can be incorporated across the research arena, democratizing the opportunity for all. Further, since pharma companies recognize the enormous inherent opportunity, genomics oriented companies can flourish and fuel innovation, with the most novel and innovative funded through venture capital!
In conclusion
The cost of genome sequencing has been revolutionized. The efficacy of genomics in drug discovery and development is proven. The focus has now shifted to diversity of genomic data and increased understanding of the genome itself to fully realize the potential.
The ability of genomics to decode risk, anticipate and proactively intervene will result in a paradigm shift in healthcare that may ultimately be as profound as anesthesia or antisepsis.