Human Genetics

Genetic disorders in the Middle East and the role of primary healthcare

By Dr Sabah Al-Lawati Geneticist and Healthcare Communications Manager

Genetic disorders are conditions caused by abnormalities in genes or chromosomes. Some genetic disorders are caused by errors occurring in genes or chromosomes during meiosis, the process which produces reproductive cells such as sperm and eggs e.g. Down’s Syndrome or Fragile X Syndrome. Defective genes can also be inherited intact from parents. This can often happen unexpectedly when two healthy carriers of a defective recessive gene reproduce, but can also happen when the defective gene is dominant. Another form of genetic disorders are multifactorial in nature i.e. the defect is influenced by genetic and environmental factors e.g. diabetes or schizophrenia.

Haemoglobin disorders, inherited metabolic diseases, neurogenetic disorders, and birth defects have been identified among the Arab populations. The relative human and economic costs of these diseases are rising because of low awareness combined with limited medical care available to affected individuals. There is a significant unmet need to change attitudes towards these illnesses in order to provide a comprehensive care approach for affected individuals and their families Role of primary care physicians

Primary care practitioners, in particular, can drive comprehensive patient care through incorporation of genetics into their practices. They are the first point of patient contact for all illnesses and therefore, are responsible for overall patient management by assessing their medical and genetic risks. In addition, genetic services are inadequate in the Middle East and do not cover all the population, which puts a significant burden of genetic disease and risk assessment together with patient education among primary care physicians. Primary care practitioners can also reduce the stigma associated with genetic disorders in conservative cultures through patient education. By increasing their skills in case recognition, management and patient education in genetics, they will improve the care of their patients and be able to provide tailored preventive healthcare and drive early referrals for genetic counseling and screening. For example, the majority (49%-90%) of hereditary breast and ovarian cancers are caused by a mutation in the genes, BRCA1 or BRCA2. Identifying women, with these mutations, before the disease occurs gives the primary care physician crucial information for developing cancer prevention strategies.

In order to achieve such preventative and improved care strategies, physicians must be able to identify patients with potential genetic risks; through effective screening of a patients’ medical and family history; inquiring about the presence and degree of consanguinity; improving their knowledge and expertise on common genetic disorders in the Middle East; and incorporating genetic counselors or counseling in primary care practice. Genetic counselors enhance the quality of patient care and serve as advocates and educators for patients as well as educators for the medical and non-medical communities.

Genetic disorders in the Middle East

The high prevalence of certain genetic diseases among Middle Eastern populations can be due to advantages these conditions confer in the heterozygote state. For example, sickle-cell anaemia, though lethal in homozygotes (affected individuals with two copies of the disease gene), protects heterozygotes (carriers of the disease with one normal and one disease gene) from malaria.

Another more common reason for the high prevalence is inter-family marriages or consanguinity, which increases the probability of two carriers marrying and producing affected children, especially when there are many offspring.

Unfortunately, cultural issues in these countries prevent people from seeking pre-marital counseling and testing to discover whether they are carriers of certain genetic disorders and hence, should be careful of their marriage-partner selection. Strategies to tackle disorders such as beta-thalassaemia and sickle cell disease include mandatory premarital screening followed by counseling on the risks of genetic disease, which United Arab Emirates, Bahrain, Saudi Arabia, Qatar and Jordan are implementing. However, experience from Iran and Saudi Arabia shows that many couples have chosen to marry despite a high risk of inherited genetic disease in their offspring.

Education and public-awareness can change matters. School curriculums and the media should be used to improve understanding of genetic diseases among healthcare professionals and the public. An Iranian study published in the British Medical Journal demonstrated that a premarital thalassaemia screening and counseling programme led to the acceptance of prenatal diagnosis and the legalisation of medical abortions, resulting in affected births being reduced by 70% within five years.

Of course, not all marriages between close relatives produce children with genetic disorders. In fact, most do not. However, testing could identify couples who are carriers of serious diseases with poor quality of life and limited lifespan in affected children. Under a fatwa issued by the World Islamic League in 1990, Islam permits abortions up to 120 days after conception if an unborn child tests positive for such a serious disorder.


There is a high prevalence of certain genetic disorders in the Middle East. Genetic services are inadequate and do not cover all the population. Initiatives such as the Centre for Arab Genomic Studies (CAGS) in UAE for identifying genetic disorders among Arabs are a significant step forward, but public awareness regarding these initiatives needs to increase through media and education. A significant responsibility for public awareness lies with primary healthcare practitioners who treat families and young couples on a regular basis. These practitioners should provide information and encourage genetic counseling among families, especially ones with affected members, in order to assess and manage their future risk, reduce social stigma attached to genetic diseases and provide a resource of useful information to improve care of affected individuals.

ate of upload: 25th January 2009

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