Parents should be wary of new genetic screening

The proposed programme would identify genetic mutations responsible for 200 rare inherited conditions – but I would proceed with caution

The Brave New World of genetics, for all its vaunted promises of scientific advance, is a fraught business. And no more so than the ambitious and costly programme launched this week where over the next few years tens of thousands of new born babies will have their “genomes sequenced” – spelling out the genes they have inherited. Parents should be wary. 
The purpose is more than commendable – to identify those mutations that predispose to genetic disorders in anticipation that detected early their consequences may be more readily avoided. But earlier this year in an article in the British Medical Journal five of Britain’s more prominent genetic researchers, significantly one might think, disputed these putative benefits – while drawing attention to the harms that may result. 
To start with, there already is a highly efficient and effective screening programme for detecting the common inherited disorders – sickle cell anaemia, an underactive thyroid, cystic fibrosis and others – diagnosed by  analysing a drop of blood obtained by pricking the baby’s heel soon after birth. The proposed programme aims to elaborate on this by seeking to identify the specific genetic mutations responsible for a further 200 rare inherited conditions. 
This is problematic on two main counts. First, there is prodigious variation in the chemical composition of genes so it is difficult to ascertain whether any abnormality detected is indeed “abnormal”. And even if it were, it is not possible to predict with any certainty whether a baby found to have a mutation will go on to develop the genetic disorder in question.  
The upshot being much distress all round: parents traumatised by learning their seemingly healthy offspring may have some obscure genetic disorder warranting numerous further tests to clarify whether it is really so. And if the verdict is not definitive the children themselves will be adversely affected, growing up with the inevitable anxiety of this Damocles Sword hanging over them. So while parents might initially be attracted by the notion of participating in the programme, it is entirely reasonable when approached to respond “Thanks, but no thanks”. I would.  
The recent comments on the frustration for those afflicted with irritable bowel syndrome of identifying which of the many possible causes might be responsible has prompted several to pass on their own experiences in anticipation this might be useful for others.
First up the characteristic colicky abdominal pains and disturbed bowel function may be a “hidden” side effect of several drugs notably the acid suppressant omeprazole. “My doctors told me there was no downside to continuing taking it indefinitely,” notes a reader from Colorado. But his investigations suggested otherwise as the reduced acidity of the stomach contents allows microorganisms that would otherwise be destroyed to pass on into the large bowel. This can result in the low-grade inflammation known as microscopic colitis. Within a month of discontinuing the omeprazole his symptoms had all resolved.
Next, and sticking with the “wrong sort” of bacteria in the gut, a woman from Berkshire is more than grateful for an article in this paper for alerting her to the cause of her “noxious wind and explosive loose poos”. A couple of months ago Telegraph journalist Alison Taylor wrote of how she discovered her chronic bowel symptoms were due to the fermenting activity of bacteria producing large quantities of hydrogen and methane gases – a condition known as small intestinal bacterial overgrowth (SIBO). “I realised this was me”, the woman writes and with some appropriate dietary restrictions “my life has been transformed”.
Finally psychological states can profoundly influence the functioning of the gut – anxiety induced diarrhoea and the low mood often associated with constipation. Hence, the well documented merits for some of IBS-oriented hypnotherapy. “I did not expect much, but it has made such a difference,” notes another woman. “It probably does not work for everyone but until you try it you don’t know!”
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