Genetic test “screening campaign” may be causing unnecessary alarm, experts warnBMJ 2023; 381 doi: https://doi.org/10.1136/bmj.p1264 (Published 02 June 2023) Cite this as: BMJ 2023;381:p1264
- Elisabeth Mahase,
- Gareth Iacobucci
- The BMJ
The UK National Screening Committee does not recommend screening for haemochromatosis, an inherited condition that causes iron build-up and can damage the liver, joints, pancreas, and heart in adults. It says that although a faulty HFE gene is known to cause iron build-up, “this does not happen to every person with the faulty gene” and warned that screening would identify people who may never experience symptoms. There was “no evidence” to suggest that a screening programme was “the best way of helping people with the condition,” it concluded after a review in 2021.1
But the charity Haemochromatosis UK has been carrying out what it terms “screening programmes” in Northern Ireland since 2021 to see if people have gene mutations associated with the condition, The BMJ has learnt. Haemochromatosis is known to be particularly common in Ireland, Scotland, and Wales.2
The genetic test used by the charity looks to find people who have mutations on the HFE gene. Three of the variations that could be identified—one or two copies of H63D, a single H63D plus a single C282Y variant, or a single C282Y—all point to a low risk of having the condition. The other potential variation—two copies of C282Y—indicates a higher risk of haemochromatosis.
The charity has so far contacted more than 36 000 households in Belfast and Newry to raise awareness of the condition and to offer free genetic testing.3 It has dispatched around 360 test kits to these areas and has also tested just over 200 people in Derry-Londonderry and Carrickfergus through another free testing campaign.4 It told The BMJ that the …