The future of genomics

About six years ago, I had my genome sequenced at 30-50x coverage by Veritas. It cost me $200. For an additional $100, I purchased my variant call file, which identified all the differences between my genome sequence and the reference human genome sequence. A friend of mine then built a spreadsheet for me so I can easily search any gene that was annotated at the time for my own variants. I’ve since checked several dozen genes for risk variants using the ClinVar database. So far, it seems I’ve won the genetics lotto.

Now, it looks like every child born in the UK will get their genome sequenced at birth.

“Babies born in the UK already receive the newborn blood spot test (also called the heel prick test), which tests for nine rare conditions. Under the new plan, a blood sample will instead undergo whole genome sequencing, which maps out the entirety of an individual’s DNA and can help to identify genetic diseases, as well as genetic variants that may put someone at an increased risk of developing other particular diseases.

 

“It’s part of a wider shift by the NHS towards personalized medicine, which aims to utilize a whole range of information about a person – including their DNA, but also environmental and lifestyle factors – in order to cater medical care to them as an individual. 

 

“This can help them to receive more suitable, personalized diagnoses and treatments, but there’s also a big focus on predicting and preventing disease in the first place. By testing newborns, the plan aims to stop disease before it happens, or at the very least, intervene much earlier. Theoretically, this should not only help give people healthier lives of higher quality, but also reduce pressure on a healthcare system that’s set to face an increasingly aged population. 

 

“The revolution in medical science means that we can transform the NHS over the coming decade, from a service which diagnoses and treats ill health, to one that predicts and prevents it,” health secretary Wes Streeting told The Telegraph. 

 

“Genomics presents us with the opportunity to leapfrog disease, so we’re in front of it rather than reacting to it […] With the power of this new technology, patients will be able to receive personalised health care to prevent ill health before symptoms begin, reducing the pressure on NHS services and helping people live longer, healthier lives.”

Yes, there are confidentiality issues, but that’s already true of more conventional medical testing data. 

When I was a PhD student in the genetics program at UNC-Chapel Hill, we used to talk about something like this in the distant future. Never thought it would happen in my lifetime.

Brave new world, indeed.


https://www.iflscience.com/uk-to-dna-test-all-newborn-babies-in-plan-to-predict-and-prevent-disease-79727?fbclid=IwY2xjawLH1opleHRuA2FlbQIxMABicmlkETFaU2F5U1pMdjBjeWlRS1JCAR4U6Tkw9YAccD2pgN4seZwk5pABaTw6IRdNJw-g2dkF4M1WgnrqcBh4t_xnLA_aem_JBWErFndpvtRGbAfOp3-0Q

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