Twenty years ago this month a quite revolutionary announcement was made. Scientists confirmed that they had a finished sequence of DNA which covered 99% of the human genome and was 99.99% accurate. Although many (including your author) probably did not pay too much attention at the time, the legacy of the Human Genome Project (or HGP) is both significant and enduring.
In 2003, had any scientific or medical researcher wanted to sequence genomic data, it would have cost $100m and taken almost a week to complete the work for a single run. As in many other fields, the impact of scale economics combined with Moore’s Law mean that today it is possible to sequence DNA for well below $1000. Some of the most advanced sequencing machines available today (made by Oxford Nanopore, for example – whom we are visiting in May) do not even need to break DNA into fragments – as was the case historically – but rather pull entire chromosome strands through a molecular pore just a few nanometres in diameter. The bases of the strand are read as they pass through the pore, yielding results in just minutes.
We first discussed the potential for sequencing over a decade ago. Put simply, think of biology as a data service. Understand the genome and medicine can move from being reactive to pre-emptive. Know your DNA and it could be possible to predict certain future illnesses, hereditary traits and how the body might respond to certain treatments. Genetics will increasingly inform doctors’ decisions. In many countries (such as the UK ), DNA screening is now occurring from birth. Bigger databases imply better outcomes.
No part of biology has remained untouched. If you can sequence human genomes, then why not those of animals or plants too? Given that arguably the largest challenge facing the world is how to allocate scarce resources efficiently in the face of a growing population, understanding how to make crops more resilient could, for example, prove to be a game-changer. With progress, of course, comes consequences. As multiomics (the top-down discipline of looking at the genome) becomes more embedded, considerations about genetic engineering will increasingly come to the fore. Further, as biology becomes much more of a big data exercise, then the data will have to be secured, for otherwise they have no value. Even at twenty, the full significance of the HGP is only just beginning to emerge.
Originally Posted April 26, 2023 – Happy Birthday HGP
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