The Clinical Genetics service was established at Royal Hospital in 1990. Dr. Anna Rajab, MBBCh(Kiev), DCH (Dublin), MRCP, PhD(London) is the Sr. Consultant in charge of the service. Dr Ismail Al Rashdi, Sr. Consultant joined the service after he completed his RCP (London) training in Medical Genetics. The unit is supported by the National Cytogenetic laboratory, which has FISH technology and cancer cytogenetics facility. A separate Clinical and Laboratory Genetics Center is also being constructed at the Bausher Polyclinic campus and will be under the jurisdiction of the Royal Hospital.
Genetics is an important part of tertiary care, as the ability to make precise genetic diagnosis saves health resources by avoiding multiple unnecessary hospitalization, procedures and investigations. It also avoids dissatisfaction because of unclear diagnosis and uncertainty of management.
Major groups of Genetic Diseases registered in Oman are:
Hemoglobinopathies: A national survey showed that genetic blood disorders are common and that 10% of Omanis are gene carriers for sickle cell anemia and 3% for Beta-thalassaemia. There are around 2000 cases of symptomatic sickle cell anemia cases - primarily children - who receive treatment in the hospitals of the Sultanate. Each year there are at least 120 new cases among the newborn. There are also approximately 300 cases of Beta-thalassaemia in Oman with an annual increase of 20 cases. Both these conditions require life-long medical care and lead to disability and death if left untreated.
Chromosomal rearrangements: The national Down's Syndrome register has listed 319 cases so far. 89 of these cases were born in year 2000.
Common single gene disorders observed: inborn errors of metabolism (metabolic endocrinopathies, aminoacidurias, organic acidurias, lysosomal storage diseases, peroxisomal disorders, mitochondrial cytopathies), congenital malformation syndromes, neurodegenerative diseases, congenital myopathies and mucular dystrophies, skeletal dysplasias, genetic forms of blindness and deafness.
The present scope of work includes:
- Clinical genetic consultations on inpatients and outpatient basis.
- Genetic counseling for families with genetic disorders, premarital and pre-conceptional consultations.
- Teaching Clinical Genetics to medical students.
- Keeping and updating Genetic registers.
- Population genetics, epidemiology and prevention of genetic disorders.
