DNA Testing at Birth
Should the UK become the first country in the world to introduce widespread, even mandatory, DNA testing at birth? We explore some of the pros and cons of routinely recording genetic data for every member of the population.
I’ve reached that age where I wonder more often about the future of my health. As any forty-year-old will tell you, it’s great to be twenty again, but that second twenty brings with it a nagging feeling that better choices might just have to be made. And, of course, “better choices” is a just a euphemism for “supreme sacrifices”. I’m fairly sure that I shouldn’t have pastries at brunch, pizza for lunch and fudge as a mid-afternoon pick-me-up, but do I really need to trade them all in for porridge, quinoa and mackerel? What if I was aware that excessive sugar intake was far more likely to trigger cardiac conditions in my later life than buttery treats, or vice-versa? I’d really like to know, and more to the point I’d like everyone to know.
Sequencing our genomes is getting cheaper all the time
Since the human genome was sequenced in 2000, the cost of building an individual’s genetic map has dropped exponentially. While the NHS struggles with the burden of an ageing population, it devotes vast resources to treating diseases which, if diagnosed earlier, could have been prevented. Around 1 in 17 people develop rare conditions over their lifetime, of which 80 percent have a known genetic cause. Serious disorders of our hearts, eyes and bones are known to have strong genetic components, but diagnosing these conditions can take a long time, and tends to happen only after symptoms appear.
During diagnosis, our approach often requires that we monitor not only the patient but a range of their relatives, not all of whom are medically relevant. Keeping a record of my personal health record and family history creates a very important resource, but combining it with my genetic data would be far more powerful. Going further, what if we adopted Health Secretary Jeremy Hunt’s suggestion of routinely sequencing people’s genomes at birth? It seems obvious that the long-term benefits would far outweigh the short-term costs, so what’s stopping us?
Fears about DNA data storage
There is a fear that storing our genetic data centrally would open that sensitive information up to abuse. What if, for example, health insurance companies ceased their moratorium on using genetic predisposition data and raised premiums for the most at-risk people? Legislation could be introduced to prevent this, but both the government and consumers would need to be vigilant to ensure that unscrupulous companies didn’t circumvent it.
In addition, what should our doctors tell us when there is doubt about risk levels? Certain genes are known to influence each other, while others can be affected by environment and lifestyle. In many cases, a genetic test isn’t going to provide a definitive forecast, but the result may still be valuable to the person and their parents. Clear guidelines for such disclosures are needed, and frameworks already exist to govern what should or shouldn’t be revealed, but are such frameworks appropriate for the genetic age? There’s no doubt that life-altering information comes with an awesome responsibility.
To pursue DNA testing at birth, public opinion would need to be broadly supportive. Figures from a 2014 YouGov survey suggest that a significant portion of the population is already in favour. Although only 19% of British adults believe it is worthwhile to test a child’s DNA to assess their risk of obesity, this number rises to 38% in the case of diabetes, to 53% for identification of a child in case of abduction, and 67% to correctly identify a father. Only 9% believed that there is never a worthwhile reason to test a child’s DNA.
Today, the most challenging obstacle is the complexity of genetic data and the associated cost of analysis, which requires the continuation of coordinated international research. The UK should set a global example by becoming the first country to legislate for the safe and secure DNA sequencing of every child born. We have made a bold first step in the shape of The 100,000 Genomes Project, but we should be thinking even bigger. As for my dietary dilemma, I recently sent my saliva sample to DNAFit and am eagerly, if somewhat apprehensively, awaiting my results – pastry or porridge; it’s a choice no one should have to make!