Genetic disorders in the Arab world
Cite this as: BMJ 2006;333:831
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Having led a South Asian Awareness Campaign on Thalasaemia in the UK, I can add to this article (1) that you can tackle this Everest of an issue by either going up the most difficult and dangerous path of tackling consanguinity and traditions first, the north face of Everest, or through much easier southern ridge routes of using technological advancement in mass media, public education and screening. Even in the Americas and Europe, pockets of consanguinity remains (Irish Travellers in UK) despite centuries of public education and the Church’s efforts to end it! (2)
Another stark choice faced in promoting genetic screening is one of either going through the governments (the push strategy), or down the pull route and let the individual inform and educate themselves via mass media and then pull these services from private or state suppliers.
The problems with push strategies is that the disparity between developed and underdeveloped countries can be easily assessed in their national strategic 5 and 10-year public health plans. At the recent World Tobacco Conference in Washington (July 2006) food security was placed very high up on the agenda of delegates from developing countries, next to clean water and malaria. In sharp contrast, these items were missing all together from North American and Northern European presentations on public health where tobacco control and obesity was very high up. We must keep this in mind when looking at a population approach to genetic screening in the developing world as their public health ministries and governments have other public health priorities.
If you then try to go around this and use the pull strategy of engaging the national media in the debate, you are now faced with the second obstacle of the individual’s informed choice. This was reviewed in the BMJ and it summarised that “some medical and screening decisions are complex because the evidence on outcomes is uncertain or the options have different risk-benefit profiles that patients value differently” (3)
You have genetic disorders and then you have Genetic Disorders!
There must be a distinction between recessive gene disorders that do not affect the carriers (are asymptomatic) and have a 25% (1 in 4) chance of affecting the pregnancy and dominant gene disorders that will have a certain devastating effect upon the person being screened. Individuals with the former can be counselled to screen themselves or at least have one partner screened to eliminate risk (in context of developing countries the burden usually falls upon the females to proactively screen themselves!). People suspected of having the latter have no incentive, inclination and motivation to know of their pending devastation. The burden of Cassandra!
This article is heavily focussed on haemoglobinopathies , a majority of the references are to the thalassaemias, where we know that non-DNA based tests like haemoglobin electrophoresis can quickly and cheaply identify the carriers. There is no need to climb the northern face of this Everest by trying to affect traditions, consanguinity and other cultural interventions to tackle rare and dominant gene disorders first as this will take years if not centuries to change. Let us tackle the thalassaemias with screening and counselling in the Arab world first. The rest can follow as a spin off.
1. Lihadh Al-Gazali, Hanan Hamamy, and Shaikha Al-Arrayad Genetic disorders in the Arab world BMJ 2006; 333: 831-834
2. Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease Geoffrey Woods et al The American Journal of Human Genetics, volume 78 (2006), pages 889–896
3.Decision aids for patients facing health treatment or screening decisions: systematic review Annette M O'Connor et al BMJ 1999;319:731-734 ( 18 September )
Competing interests: None declared
Competing interests: None declared
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