SELECTED STUDIES
SELECTED STUDIES
Development
of Community 
Genetic Services in
Arab
Countries
Arab countries encounter major impediments in providing comprehensive
and up-to-date medical services in a rapidly advancing field such as genetics. The low priority given to
community genetic services in
Arab countries may be related to:
¨
Paucity of resources
¨
Prescence of other competing priorites, as for example, communicable
diseases and non-communicable chronic disorders as cardiovascular diseases,
cancer, and diabetes.
¨
Insufficient numbers of trained health
professionals in the area of medical genetics
¨
Inadequacy of data on the real magnitude and
health and economic burden of genetic disorders
¨
Misconceptions that the control of common genetic
disorders is too expensive and always linked with sophisticated high technology,
limiting its introduction to the general public
¨
Low education levels, specifically in the field of
human genetics
¨
Lack of awareness among the public about genetic
risks and possibilities for prevention of genetic disorders
¨
Cultural, social and religious limitations, for example, families with
genetic diseases do not want to be stigmatized.
The limited epidemiological studies published indicate that congenital
and genetically determined disorders occur among Arabs in rates similar to or
exceed those in more industrialised countries. There is a high frequency of
hemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in many Arab
countries, a high rate of consanguineous marriages, a relatively high percentage
of mothers over 35 years of age, large family size, and a generally low
awareness related to genetics among the public and health professionals (1,2).
Community genetic services
can be feasibly integrated into primary health care programs already present in
many Arab counties. Presently, the need to introduce community genetic services
in Arab countries is emerging due to the following:
Ø
Declining morbidity and mortality from infectious
diseases, and declining infant mortality rates
Ø
Good coverage of reproductive primary health care
programs in most Arab countries
Ø
Need for better understanding of the advantages
and disadvantages of consanguinity
Ø
Prevention of hemoglobinopathies is cost-effective
Ø
Public is becoming more aware of issues like
genetic testing and risk assessment and will soon demand genetic services
Ø
Genetics becoming an essential integral of most
medical specialties
The published data on genetic services in Arab countries are quite
scanty. An idea about the facilities provided can be obtained from research
papers published in local or international journals. Genetic services, currently
available in Arab countries, generally comprise referral centres that offer
genetic counselling and diagnostic facilities. Some countries have initiated
newborn screening programmes for the diagnosis of phenylketonuria and congenital
hypothyroidism. Premarital screening programmes for carriers of thalassemia are
being implemented in some countries on limited basis or as pilot studies The
Arab League Technical Committee published in 1998 a document entitled
‘Directory for human genetic services in Arab countries’ (3).
The document provides information on genetic services in some Arab countries
presented in the form of computerised tabulation of the centres and personnel
available in each country, together with coded lists of the different services
offered in each centre. Not all countries are included and not all services are
listed, because the directory was based on information individually or
nationally provided in response to questionnaires sent by the Committee. The
responses were not inclusive of all available services. The document, however,
is a good attempt that provides valuable information. It indicated the
availability of some genetic service facilities in many Arab countries. The size
of the service facilities could be predicted from the number and specialities of
personnel attached to the facility. Some service facilities were linked to
Ministries of Health outpatient clinics or hospitals; others were linked to
medical schools or teaching hospitals.
Special issues that need to be addressed in Arab countries while
introducing community genetic services include:
Ø
Counseling on consanguinity in absence of an
autosomal recessive condition in the family
Ø
Criteria to define conditions where therapeutic
abortion is ethically and culturally permissible
Ø
How to reach at risk family members in an extended
family while maintaining confidentiality at the same time
Ø
Premarital screening for common recessive
disorders. For example the possibility of testing only one partner, if carrier,
test the other.
Ø
How to deliver scientifically sound information to
the public
Ø
Programs for the diagnosis of institutionalized handicapped children with
training courses to health and social workers and family oriented counseling
Ø
Defining conditions that are preventable in absence of prenatal
diagnosis and selective abortion
Ø
Define criteria that influence the success of screening programmes and
genetic testing
Prof. Hanan Hamamy with Prof. Mohsen Al-Hazmi in Muscat,
Sultanate of Oman during the January 2000 genetics conference
Strategies
for
the prevention of genetic and congenital disorders in Arab countries may differ
from one country to another according to local needs, resources and priorities,
yet they can share some or all of the following main strategies:
q
Integration of community genetic services into
existing health care systems can be feasibly implemented in all countries,
irrespective of the level of resources available. To initiate interventions for the control of genetic and
congenital disorders at the national level, the establishment of a vertical
programme for genetics is not necessary. Integration
of public health approaches into the existing health care system such as into
reproductive health programmes is probably the most appropriate way of achieving
this objective. Although some
additional training and resources will be required, the potential benefits are
considerable. An example of the integration of community genetic services into
primary health care programmes is the inclusion of preconception counselling and
screening in reproductive health clinics.
The approach includes preconception information (nutrition, maternal
infections, Rh status, parental age, maternal disease, teratogenic drugs and
chemicals,), referral of couples at high risk to specialised centres, carrier
screening, and newborn screening programmes (4). Community genetic services
could also concentrate on providing family oriented services such as genetic
counselling. The implication is that genetic counselling has a particular
potential for providing help to families with genetic diseases due to the high
rate of consanguinity and the large family size in most Arab countries.
q
Education
of the public is a definite priority since ignorance and misconceptions could be
barriers to the implementation of community genetic programs. Mass media
educational campaigns must be scientifically based and appropriately delivered.
. These campaigns must respect local cultural and religious beliefs and avoid
controversial issues and convincing messages.
School curricula on current human genetic issues and prevention
guidelines could be revised and updated. Premarital genetic counselling could be
the best educational tool if made accessible to each couple. Education is a
prerequisite to screening programmes, since a well-informed individual can take
responsible decisions.
q
Strengthening
human resources through training and education of the health sector will provide the
main body needed to implement community genetic programs. Rennnovating medical
and nursing college curricula related to the practice of human genetics would on
the long run supply the manpower required for the prevention programmes. More
emphasis could be placed on practical guidelines of how to approach genetic and
congenital disorders at the primary health care level. Priorities in teaching
could be given to diseases common in the country. Strengthening the continuing
education programs and their dissemination throughout the country would provide
essential information and training for all health personnel. There is also the
need for special training courses for laboratory skills development.
Arab countries in general do not have enough specialists in human
genetics and there is a need to increase manpower resources in human genetics in
all specialties. The experts in human genetics in the area are mostly pioneers
who have established referral service centers for genetic and congenital
disorders in their countries. There is a need to encourage these experts to
expand their interests and efforts in order to integrate their activities into
health systems. Primary health care workers need training for acquiring the
necessary skills in first level counselling, so that they can be involved in
providing premarital and preconception counselling, and counselling prior to
newborn and carrier screening. Genetic
counselling for individuals or families at high risk or those with unfavorable
test results is given provided by specialists in the field. Guidelines regarding
consanguinity in genetic counseling settings and educational material need to be
clarified according to evidence based criteria. Consanguinity is a sensitive
issue in communities where half of all marriages are consanguineous, and the
social benefits of consanguinity may outweigh the adverse health effects. There
is a need to revert the current misleading conception in some Arab countries
considering that consanguinity is the sole factor to blame for the occurrence of
genetic and congenital disorders.
q
Commitment
of policy makers and the availability of political will is needed for funding, planning
and managing the prevention programmes. There is a need for increasing the
awareness of policy makers regarding genetic and congenital disease.
Epidemiological studies on frequency of the disorders can give sound evidence of
the health burden imposed by the number of affecteds and the cost of management.
Decisions should be made on whether genetic services should be comprehensive or
start with specific priorities dictated by local needs and available resources.
Prevention programmes planned, besides being cost effective, should take into
consideration local beliefs and social attitudes. For example, premarital
screening and preconception counselling as preventive measures are more
acceptable than therapeutic abortion in Arab countries as compared to some
European countries.
q
Introducing new technology that shapes the diagnostic and
therapeutic facilities of present day genetics is recommended. A national centre
for the control of genetic and congenital disorders must be established in each
country. The centre should aim at introducing new technical facilities according
to the available resources with the ambition of increasing these facilities in
the future. The national genetic center is also responsible for the
dissemination of information and for advising on community genetic services.
Research in the field of genetics in each country is essential to define
local issues, to indicate priorities and to solve emerging problems. There is a
need to study the already existing experiences regarding genetic services in the
area and the reaction of the public to these services. Genetic testing is
currently a major issue in preventive medicine; the possibilities for including
genetic testing in community genetic programs in the Arab countries could be
investigated.
q
Defining ethical standards must be a component of any community
genetics programme. In medical genetics, progress and new discoveries are
running ahead of ethical formulations. The public in general, religious leaders,
many politicians and some health professionals do not feel comfortable with the
very rapid advance in the science of genetics and molecular biology. The media
highlights special issues in genetics such as reproductive cloning and germ cell
therapy. These issues arouse fear and distrust among the public and stigmatise
genetic services. It is important to alleviate these fears, so that community
genetic services become widely acceptable and sought. Generally the
main ethical standards that need to be addressed involve the following
issues:
-
Genetic services should reach all those in need
-
Education of the public
-
Services should not contradict cultural and
religious beliefs
-
Definition of guidelines for therapeutic abortion
-
Definition of guidelines for premarital counseling
-
Definition of guidelines for counseling and media
messages on consanguinity
There
might be some problems encountered with implementation of genetic services in
Arab countries, examples include:
·
Families with an autosomal recessive condition
that has no possible or available carrier screening may not adhere to the advise
of ‘no further intermarriages’ because of cultural restraints and fear of
stigmatizing daughters
·
Media may be involved in addressing messages that
are not scientifically sound, for example: premarital tests can prevent all
genetic diseases, consanguinity is the cause of all congenital malformations..
·
Public wants more than can be offered, especially
as regards management possibilities
·
Some diagnostic tests may prove too expensive to
be offered to all the population, as for example prenatal cytogenetic testing
for chromosome anomalies. Consequently such tests will not be included in
community services resulting in inequity among different population classes
In conclusion, the
considerable challenge posed by genetic disorders and congenital abnormalities
calls for the development of prevention programmes through the establishment of
community genetics services. The strategies proposed in this article do not
necessarily require sophisticated technical facilities but are primarily based
on strengthening the training of health professionals and public education.
However, the molecular revolution that characterized the last two decades has
introduced into medical practice many procedures that aid in the diagnosis and
prevention of genetic diseases and it is important for countries of the region
to take account of these developments. Such
technology can be introduced gradually into national prevention programmes.
1.
Alwan A . & Modell B. Community
Control of Genetic and Congenital Disorders, EMRO Technical Publications 24,
World Health Organization, 1997
2.
Teebi A and Farag T. (eds.) Genetic Disorders Among Arab Populations,
Oxford Monographs on Medical Genetics No.30. NY: Oxford University Press, 1997.
3.
The Arab League Technical
Committee. Directory of Human Genetic Services in Arab Countries. Part one.
First edition, 1998
4.
Hamamy H and alwan A. Genetic disorders and congenital abnormalities:
strategies for reducing the burden in the Region, Eastern Mediterranean Health
Journal, 1997, 3(1): 123-132.
Dr. Hanan Hamamy, MSc(Edin), MD is a professor of medical
genetics with more than
30
published papers. She recently joined the National Center for Diabetes, Endocrinology and Genetics, Amman Jordan.
