To Whom It May Concern: UK National Screening Committee (UK NSC),
I understand what you do. I do understand.
You advise the government and the NHS about all aspects of screening. You look for research evidence and assesses this evidence against a criteria which looks at the condition, the test, the treatment and how effective and acceptable the screening programme is. You also evaluates the cost of the programme with the ultimate goal of ensuring that the programme does more good than harm and at a reasonable cost.
As a Doctor of Medicine, I understand better than most the evidence, the criteria, the effectiveness and acceptability of a screening programme. I can read your expert's opinion, even marking the time spent reading the report as continuing professional development because I can learn from it, reflect, change my practice and teach from it.
The salient points that I take from the report are as follows:
You advise the NHS of the four countries of the UK and therefore your paper should be looking at the evidence for a carrier screening programme for SMA in the UK and not just in England.
SMA is the second most fatal autosomal recessive disease (after cystic fibrosis) and yet few people, and that includes health care professionals, outwith the SMA community know anything about this disease but know much more about CF.
Carrier prevalence estimates are between 1 in 76 and 1 in 111, lower than the 1 in 40-50 I expected.
The clinical progress of SMA is highly variable but with many complications possible, SMA has a significant impact of the quality of life of the child and their family, but also on the NHS and society too.
Overall survival is improving which is wonderful but at the same time this means an increasing burden of care - emotional, physical, financial - on the family and on society.
The genetics of SMA are now better understood, however they are complex and limitations exist when applied to carrier testing. It is also impossible to determine the type of SMA a couple deemed carriers may have, so counselling them with regards to the quality of life and prognosis for their child would be impossible.
There is no treatment or cure for SMA although research is ongoing, specifically in the area of managing the severity of disease, with treatment potentially being possible during the early course of the disease - this in itself, however, suggests that pre-natal or at least ante-natal testing would be necessary if such a therapy comes to fruition.
There is no evidence of sufficient hierarchy to support that a screening programme for SMA would reduce mortality or morbidity.
That you have not taken into account any of Dr Felicity Boardman's work on the psychological impact of carrier screening seems to be rather a large oversight on your behalf.
This review should not have been aimed at ante-natal carrier screening (CVS or amniocentesis) but at women contemplating pregnancy who, through the improved education and subsequent awareness of the general public about SMA, should be allowed to make an informed decision regarding pre-natal screening of themselves and subsequently, if their status is positive, their partner.
The conclusion that I draw, that is screaming out from within the lines of the report, obvious to me and probably to many others, is this:
At this time a screening programme for SMA is not recommended, however, increasing the public's knowledge and awareness of this genetic disease is paramount, enabling further resources to be made available and directed towards the research of the complex genetics of SMA; the development and implementation of a sensitive and specific carrier genetic screening test; and the advancement of an evidence-based effective treatment.
A pre-natal screening programme should be considered in light of ongoing research into treatment which can manage the severity of disease (and, perhaps slow the progress of disease?) so as to not discriminate those with the more severe forms of SMA, allowing treatment to begin early.
The burden of SMA - physical, psychological, and financial - on individuals, families, communities and society should also be considered when evaluating the cost-effectiveness of screening: to do this a period of transparent public consultation must be considered.
To finish; I understand what you do, UK NSC. I understand the conclusions that you draw. I understand as a Doctor, but I also understand as a mother to a child who has SMA 2 and this is the bottom line:
The SMA community needs a louder, more dominant public voice; we need to be heard. We need to increase the public's understanding of what SMA is and how it affects lives. And above all we need more money and resources injected into the research of the genetics and treatment of SMA.
A doctor and a mummy