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Re: Cystic Fibrosis and Newborn Screening and the Detection of Carriers

Dear Editor

I read the leading article by Maurice Super with great interest.[1] The inadvertent detection of carriers for cystic fibrosis has been likened by some to a portent of doom. It is therefore reassuring that the article that accompanies the leader from Parsons et al.[2] and the references quoted therein show no long term harm. Maurice Super calls for a positive approach when broaching the diagnosis of carrier status. My own practice is as follows:

Let us suppose that Mr & Mrs Jones have given birth to their second child a son, William, who is found to be a carrier for cystic fibrosis. The conventional approach, if the sweat test is normal as is usually the case, geneticists commonly talk about the diagnosis in terms of “William’s faulty genes” and the “risks of cystic fibrosis” in the offspring of that family and in future generations. This creates anxiety and I take a completely different view. I congratulate Mr & Mrs Jones on the birth of their son and tell them that as far as we can tell, their son has some mysterious advantage in his life to come. I go on to tell them that the best available evidence at present suggests that were there to be a wave of severe virulent bacterial infection of the gut from an epidemic of cholera for example, it is very likely that their son William could be a survivor from such an outbreak compared to a baby who didn’t inherit a single copy of the cystic fibrosis gene carrying the so-called CF defect. I take this line to leave the parents with a positive take home message. I urge others to follow suit and consign to the dustbin of history the idea of “faulty genes” as lucidly enunciated by Weatherall in his review.[3]

In medicine it is common practice to follow the Hippocratic principle of primum non nocere (first do no harm). This constraint is countered by the observation enunciated by the sage of Koningsberg (Immanuel Kant) that to do good is a “categorical imperative”. Thus the practice of Medicine is constrained by the wisest of the wise. I hope that by following a logical positive practice, both Hippocrates and Kant will be able to rest easy.

Reference

(1) Super M. Cystic fibrosis newborn screening and detection of carriers. Arch. Dis. Child. Fetal Neonatal Ed. 2003; 88: F448-F449.

(2) Parsons EP, Clarke AJ, and Bradley DM. Implications of carrier identification in newborn screening for cystic fibrosis. Arch. Dis. Child. Fetal Neonatal Ed. 2003; 88: F467-F471.

(3) New Scientist 22 November 2003 p.44.