Genomics England wants to sequence five million human genomes
bomb convinced politicians that physics, though not readily comprehensible, was important, and that physicists should be given free rein. In the post-war years, particle accelerators grew from the size of squash courts to the size of cities, particle detectors from the scale of the table top to that of the family home. Many scientists in other disciplines looked askance at the money devoted to this “big science” and the vast, impersonal collaborations that it brought into being.
Such hype was always going to be hard to live up to, and for a long time the genome project failed comprehensively, prompting a certainamong those who had wanted biology kept small. The role of genetics in the assessment of people’s medical futures continued to be largely limited to testing for specific defects, such as themutations which, in the early 1990s, had been found to be responsible for some of the breast cancers that run in families.
The most notorious of the genes with obvious impacts on health were already known before the genome was sequenced. Thus there were already tests for cystic fibrosis and Huntington’s disease. The role of genes in common diseases turned out to be a lot more involved than many had naively assumed. This made genomics harder to turn into useful insight.
Polygenic risk scores can be applied to everyone. They tell anyone how much more or less likely they are, on average, to develop a genetically linked condition. A recently developedfor a specific form of breast cancer looks at 313 different ways that genomes vary; those with the highest scores are four times more likely to develop the cancer than the average.
Genes are not everything. Controls on their expression—epigentics, in the jargon—and the effects of the environment need to be considered, too; the kitchen can have a distinctive effect on the way a recipe turns out. That is why “biobanks” are being funded by governments in Britain, America, China, Finland, Canada, Austria and Qatar.
At present, because of privacy concerns, the fortunes of these direct-to-consumer companies are not looking great. 23andMe laid off 14% of its staff in January; Veritas, which pioneered the cheap sequencing of customers’ whole genomes, stopped operating in America last year. But as health records become electronic, and health advice becomes more personalised, having validatedscores for diabetes or cardiovascular disease could become more useful.
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