Abstract
Nearly 33 years ago, we started out on a voyage to solve a huge genomic puzzle, 13 years later we had the first three billion lettered draft of the human genome. This was a laudable feat, deserving of the recognition the scientific and political community bestowed upon those that contributed to its completion. The promises of how this would unlock a raft of incurable genetic diseases unfortunately didn't materialize. Fast forward to this year, nearly two decades on, we have managed to fill in the gaps and create a complete genomic operating manual of human life.
We had certainly underestimated the complexity of the genome, the volumes of data that would flow from it, and how we were going to figure out the interpretation, storage, and accessibility in an equitable and ethical manner for patients, clinicians, and researchers. Unresolved issues of genomic diversity still need to be tackled and we're only really beginning to grapple with the realization that genomics, albeit foundational, is only one of many omics that will need to be interrogated at depth to elicit a better understanding of disease etiology.
Today we can now sequence a genome in a smidgen over five hours. This is transformative and combined with huge reductions in cost (only recently we've heard declarations from the commercial sequencing fraternity of a $100 genome). In addition, with the rise of rapid neonatal sequencing and with whole genome and exome sequencing helping diagnose adult and pediatric diseases in ways that were unimaginable only a few years ago, we're certainly marching forward in transformative and positive ways.
But that march is still very slow in terms of clinical implementation and success stories are limited. It is estimated that 30 million people have had their genomes sequenced—but for many it hasn't been particularly illuminating. Attempting to boil the genomic ocean isn't paramount. There are some key areas we could be addressing more. Wide scale use of polygenic risk scores is yet to evolve for a range of common conditions and we need more investment in developing the infrastructure to accommodate PGx networks in clinics and pharmacies.
Large scale sequencing projects will continue to create repositories of useful information, but genomes need to be paired with phenotypic data, with much still to unravel within the proteome, transcriptome, microbiome, epigenome, and indeed, exposome. The throughput of sequencing technologies will continue to improve flexibility and speed, the computational power of data analysis will continue to increase, and in the passage of time these systems will inevitably become more affordable and democratized.
I hope this issue stimulates some thought around how far we've come and the ongoing path we need to follow. Educating as many as we can along the way will be one of our biggest challenges.
Damian Doherty
Editor in Chief
