Vol 41 # 3 September 2009 - Kma.org.kw

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Population Health Genomics in Member Countries of the Cooperation Council for the Arab...
research of genetic diseases in the Arab world was
established six years ago in the United Arab Emirates
with the aim of improving research and the exchange
of information among researchers [109,117] . Recently,
Saudi Arabia launched a genetic research project
that includes a biological bank with the capacity to
accommodate a large number of biological samples
and thus to encourage genetic research in the
kingdom, especially the investigation of gene-disease
associations and gene-environment interactions [118] .
Although there is great variation in the types and
rates of genetic diseases in the Arab world, the GCC
population tends to have similarities in this regard
as a result of common demographic, cultural, social
and health characteristics [1] .
Differences among screening programs for
newborns in the GCC countries are similar to those
observed in Europe. Several countries, e.g., Austria
and Germany, have included a large number of
genetic diseases in their screening programs,
whereas others, e.g., Great Britain and Switzerland,
include very few diseases for reasons such as costeffectiveness
[119] . Some European countries have not
introduced any newborn screening programs for a
variety of reasons such as the economic impact of
such programs on health care resources [119] .
The detection of diseases through newborn
screening programs at present will increase
awareness and knowledge and this would be
expected to lead to improvements in health care
management protocols, especially if there is
collaboration across jurisdictions. Genetic disorders
that are untreatable today may be manageable and
even preventable in the future, and this argues
for the importance of implementing screening
programs in any country, establishing infrastructure
first for conditions for which there is evidence that
benefits are greater than harm and which can then
be extended as evidence for other conditions as
resources becomes available [119] .
In the GCC countries, reported obstacles to the
implementation of newborn screening programs
include underdeveloped health systems and
problems with the referral process, particularly in
remote and rural areas. Other challenges include
the provision of adequate education and training
for medical staff to diagnose and manage genetic
diseases, economic burden, public awareness,
processes for collection and transportation of samples
and reporting of results and the development of an
efficient information system. Finally, the inclusion of
appropriate screening tests for a specific population
requires detailed research and investigation to
evaluate cost-effectiveness and increase the public’s
acceptance of screening programs [6,9,19,26,47,49,112] .
The number and nature of genetic diseases
included in screening programs should be based on
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local community experiences, reported surveillance
data, and the results of previous research on the
balance of benefits and harm. In circumstances
where evidence to support a broadly based
screening program is lacking or insufficient, the
implementation of a pilot program targeted toward
a subcategory of the population is recommended
to investigate its impact and cost-effectiveness and
potentially to encourage health policy-makers to
implement the program at a national level [112] .
In our review of the available data we found
similarities between the GCC countries with respect
to genetic disease prevalence (with rates that were
high in comparison with those reported in Europe
and North America) and with respect to the
contribution of consanguineous marriage to those
high rates. These similarities may be considered an
advantage insofar as they provide a rationale for
the GCC countries to collaborate with each other
in disease surveillance and research and to adopt
similar screening programs. A common screening
program involving the total GCC population
would also have a particular benefit for individual
countries in that some of the monitored diseases
are considered to be rare; thus, the pooling of data
from different countries will enable faster progress
in research. Effective population health genomics
requires a multidisciplinary approach in which
knowledge and experiences related to population
health genomics are exchanged between the
different sectors in each county [112] .
Public understanding of genetic diseases has
been shown to be correlated with educational level
in the GCC countries [11,120] . Although parents of
affected children may react with either denial or
resignation to their situation, providing a scientific
explanation can reduce feelings of guilt [120] . Health
promotion activities regarding genetic diseases
should be encouraged among the public at all levels,
especially for younger people [12,25,28,31,46,120] .
There has been an emphasis on the use of
non-invasive methods such as ultrasound to
detect congenital abnormalities in the prenatal
period, since they do not cause discomfort when
administered and are more readily accepted than
invasive techniques [121] . However, pre-implantation
genetic diagnosis (PGD) has the advantage of
enabling therapeutic abortion to be avoided, since
it is performed very early after fertilization in
vitro [27,30,122] . This procedure seems to be acceptable
among the GCC countries despite its high cost, but
it is not widely available due to technology and
economic barriers [12,122,123] . Because the diagnosis is
made before implantation, the technique presents
fewer ethical and religious concerns [122,123] and
can reduce pregnancy terminations for high-risk
couples [123] . Despite these advantages it requires