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Genetic disorders in the Arab world

BMJ 2006; 333 doi: https://doi.org/10.1136/bmj.38982.704931.AE (Published 19 October 2006) Cite this as: BMJ 2006;333:831

Genetic disorders-why go down the hard and slow road?

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: No competing interests

27 October 2006
Kawaldip Sehmi
Chairman
Koum-Community Network TW7 7QQ