Genomic testing; UK’s chief medical officer calls for making it as common as blood tests

The Chief Medical Officer to Her Majesty’s Government, Dame Sally Davies, has today published her annual report. In it, she has outlined the importance of genomic testing, and recommended that it become part of routine NHS care.

Make DNA tests routine, says UK’s chief medical officer 

Coming from the country’s senior most advisor on health, this is an important statement, and acknowledges the importance of the genomic revolution. It is likely to have a significant impact on the management of LSD, for example by facilitating newborn screening; early diagnosis will undoubtedly improve the prognosis for many LSD’s that are currently treatable, but where the diagnosis is often made at an advanced stage, when such treatment is likely to be less effective.

It may also open up new and exciting avenues of research. For example, patients with LSD’s that affect the brain are often diagnosed too late to benefit from clinical trials of newer treatments. By providing earlier diagnosis, patients who previously might have been excluded from such trials may now stand a good chance. It will also surely be an incentive to the industry to develop clinical trials, knowing that there may well be larger numbers of suitable patients.

There are tight regulatory processes in place that ensure good research governance; the Medicines & Healthcare products Regulatory Agency, research ethics committees, and so on.

Of course, there are wider implications for society as a whole. There will also undoubtedly be financial implications for an already cash-strapped NHS. New treatments for LSD’s are invariably expensive. A discussion of these issues, while important, is outside the scope of this post.

At the very least, however, by placing this important item high on the government agenda, and thereby raising public awareness, the CMO has encouraged healthy public debate.  She has done the right thing.





Author: Ashok Vellodi

I have had a lifelong interest in lysosomal storage disorders. Having recently retired I now have time to pursue my passion for teaching and training of young doctors and scientists, and hopefully instil in them the passion for their patients that is so integral to working in this field.

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