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30-01-2011 | Article

Improving our genetic screening systems

Two interesting reports referring to medical conditions with strong genetic components caught my attention recently. Each raises the issue of screening within families once a specific case has been identified. Thinking of all the scenarios I have personally seen and read about in the past, I have to conclude that organised screening for medical conditions that can run in families is not optimal in the UK.

The first report was an audit of familial hypercholesterolaemia (FH) management in the UK, highlighted in the univadis GP News service (click here). The audit, conducted by the Royal College of Physicians, found that many people with FH are not being diagnosed and concluded that relatives of affected cases are not being offered screening. An important finding highlighted in the original publication (click here) was: "The prevalence of FH in the UK is about 1 in 500 (very similar to Type1 diabetes)." Indeed, an expert commented: "In the UK I estimate that roughly one undiagnosed FH patient a day suffers a coronary event that could be prevented." Of course this statement needs to be backed up by robust evidence, but it is a worrying observation and clearly something that we should be looking into and trying to improve.

The other was an article in the British Medical Journal (BMJ) looking at hereditary haemochromatosis, an autosomal recessive condition that results in excessive intestinal absorption of iron (to read the abstract click here). The authors say that there is insufficient evidence for embarking on population screening for hereditary haemochromatosis, but suggest that screening first-degree relatives of an affected patient is an option for picking up other currently undiagnosed cases within the family.

I am sure there is room for targeting relatives of affected patients with a condition that has a strong genetic susceptibility. Just look at the audit from the Royal College of Physicians and you can see there is certainly more work to be done on this.

Sometimes affected individuals are advised to inform their family that they should attend their own GP for evaluation, and this has happened to me. Often the transmission of information is not great, which can lead to further confusion.

I am sure there are pockets of well organised screening, but this is not being replicated throughout the whole country. It would be nice if we could work all together in a more organised fashion, so that cases that are currently slipping through the net can be detected and managed in a planned and evidence-based fashion.

Best wishes,


Dr Harry Brown, editor-in-chief

By Dr Harry Brown