Genetic services and testing in the Sultanate of Oman. Sultanate of Oman steps into modern genetics

Abstract

The Sultanate of Oman is a rapidly developing Muslim country with well-organised government-funded health care services, including primary, secondary and tertiary, and rapidly expanding medical genetic facilities. At the present time, the Omani population is characterised by a rapid rate of growth, large family size, consanguineous marriages, and the presence of genetic isolates. The preservation of a tribal structure in the community coupled with traditional isolation has produced unique and favourable circumstances for building genealogical records and the study of genetic disease. Genetic services developed in the Sultanate of Oman in the past decade have become an important component of health care. The recently constructed Genetic Centre in Muscat expects to meet the needs of the Omani population in provision of genetic services and research, in a manner deferential to the cultural and religious traditions of the country.

Congenital and genetic disorders in the Sultanate of Oman. First attempt to assess healthcare needs

“…Many of the population studies have been restricted to subpopulations based on hospital studies rather than community-based or population-based studies (Al 1996;Dawodu et al 2005;Topley and Dawodu 1995;Rajab et al, 2005;Rajab and Patton, 2012) and may not always provide a balanced picture of the frequency or distribution of childhood disability. In Oman, there is a comprehensive provision of government-funded healthcare throughout the country with a network of primary care centres and secondary care hospitals with three major specialist centres for tertiary care (Rajab et al, 2013). This has allowed us to carry out population-based studies on haemoglobinopathies Patton 1997, 1999;, and on consanguinity .…”

“…The more specialised genetic diagnoses were made in the tertiary care hospitals and National Genetic Centre where some specialised genetic testing and diagnostic facilities were provided (Rajab et al, 2013).…”

“…The Omani population is characterised by a rapid rate of growth, a large family size with an average of seven children per family, and a high level of consanguinity (Rajab et al , 2013. Healthcare is provided free of charge to nationals through over 210 primary healthcare institutions, 11 regional secondary care hospitals, and 3 tertiary referral centres (Fig.…”

Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family

“…The family could be expected to benefit from this knowledge through genetic counselling and also through carrier screening of additional family members and/or potential marriage partners. Omani genetic services, which are government funded, have been developed and improved significantly within the healthcare system over the last 10 years [Rajab et al, 2013]. This coincided with a growing understanding of the increased burden of recessive conditions and congenital abnormalities due to consanguinity, with over 50% of marriages in this population being consanguineous [Rajab and Patton, 2000;Rajab et al, 2013].…”

“…Omani genetic services, which are government funded, have been developed and improved significantly within the healthcare system over the last 10 years [Rajab et al, 2013]. This coincided with a growing understanding of the increased burden of recessive conditions and congenital abnormalities due to consanguinity, with over 50% of marriages in this population being consanguineous [Rajab and Patton, 2000;Rajab et al, 2013]. Although consanguinity is rooted in the culture and reflects the preservation of traditions, religion and tribal groups, genetic health education and the culturally-sensitive implementation of technologies such as prenatal screening and pre-implantation genetic diagnosis may offer some hope for the family described in this report.…”