Genome sequencing technologies have advanced with a remarkable pace over the last two decades. It is said that these technologies have followed, what in computer science is called, the Moore’s Law. Consider this amazing fact:
The first human genome was sequenced with an investment of USD 8 Billion and 13 years of multicenter international work. Today we can sequence an entire genome in a day and we are now looking at the $100 genome.
The intent of human genome sequencing has been to advance our knowledge about diseases and how we can predict effects of medication more accurately. This in turn helps us design more effective medicines at a far lesser cost. Indeed, the science community’s achievements in harnessing genomics have been incredible till date: the efficacy of genomics is now proven.
The remarkable cost-time effectiveness due to cutting-edge genomic sequencing technology is now becoming an enabler to accelerate generation of new knowledge about human health which is directing the design of new medicines.
We are at the cusp of what must perhaps be called a genomics led revolution in human healthcare.
Even as the science community sets out on this revolution, it is helpful to take a birds-eye view of where we stand now.
Shift of focus from sequencing to diversity
The focus at the beginning of the genomics era was, in the first instance, to sequence the genome. However, populations differ not just in genetic variations but also in phenotypic and disease characteristics. Thus, scientists recognize that as we generate new knowledge with genomics, it is imperative to understand these differences as they relate to genetic findings. Therefore, it is essential for progress, to acquire this data on diverse populations along with their medical history. This diversity focus represents a paradigm shift that we are witnessing today.
Data acquisition vs knowledge
Genome sequencing is now a solved problem. However, the understanding of the sequence data is still evolving.
While the genome reflects all the DNA in our cells, much of the work to date has focused on a subset of that DNA, the exome. This is the part of the genome that represents the genes that code for the proteins, enzymes and cellular constituents that make up our cells, organs and body. The exome constitutes only 2% of the genome, the remain in ng 98% has regulatory and other roles that are very poorly, or not at all understood at this time.
Furthermore, despite the fact that we can sequence all the 20,000 or so genes and the focus of most research being on them, we understand the role of less than half of these genes. The rest are largely a mystery.
Therefore, now that sequencing is a solved problem, the focus of the science community is moving towards understanding the sequence data.
In conclusion
Genome sequencing technology has come of age. The efficacy of genomics in the design of medicines has been demonstrated and we stand at the cusp of a genomics-led revolution in healthcare. Over the next few years, the following two themes of efforts will help drive genomics-led medicine discovery:
- Genomic data acquisition from diverse populations enriching the genetic data on disease traits
- New knowledge on disease expression and predispositions from diverse populations with variable susceptibilities and presentations powering correlations