Enriching healthcare by empowering patients with genetic knowledge
Written By: Sonika Sachanandani-Phulwani (Genetic Counselor)

THE MIDDLE EASTERN POPULATION & GENETIC DISORDERS

There are a number of factors contributing to the high rate of genetic disorders in the Middle Eastern population. These include; High fertility rates (1.7-6.4 children born/woman), Extremely high rates of birth defects (63-82/1000 live births), High rates of consanguinity (inter-family marriages), Isolated Populations (E.g. Armenians, Bedouins, Jews etc.), Child bearing at either very early or old maternal ages and the lack of public health measures or awareness.

Several groups of genetic disorders have reached epidemic values and occur at extremely high annual rates of >100 cases/100,000 live births among these individuals. This group encompasses all hemoglobin disorders (thalassemias, SCA, hemoglobin variants), G6PD deficiency, Down Syndrome, cancers (breast, ovarian, cervical, lung).

The overwhelming distribution of these diseases in the Middle Eastern population could be due to the exposure of these countries to common environmental factors that encouraged natural selection of these disorders and consanguineous marriages in the case of many autosomal recessive disorders (when both the parents are silent carriers (asymptomatic) of a condition, there is a 25% chance that their child would be born affected by that condition).

STATISTICS
Recent estimates indicate that there may be more than 400 genetic diseases in the UAE, among which 60% are of the autosomal recessive type. Congenital malformations (birth defects) are the second leading cause of infant deaths. To date, more than 7,000 different birth defects of genetic or partially genetic origin have been identified and 70% of birth defects can be prevented. The mounting burden of genetic disease could be reduced through promoting the implementation and practice of genetic testing and counseling. 

WHAT IS GENETIC COUNSELING?
Genetic counseling is an educational process of providing information and support to individuals and families who have members with birth defects, genetic disorders, or are at risk for a variety of medical disorders based on their family history or prenatal screening tests.

WHO IS A GENETIC COUNSELOR?
Genetic counselors are healthcare professionals with unique specialized graduate degrees and experience in the areas of both medical genetics and counseling. Genetic counselors work as members of a healthcare team; providing risk assessment, education and support to individuals and families at risk for, or diagnosed with an inherited condition and provides testing options. They also assist in interpreting the genetic test results, provide supportive counseling, suggest reproductive options and serve as patient advocates.

The steady advancements in genetic technology have led to increasing complexity in the available test options, interpretation of results and reproductive decisions. It is thus becoming increasingly important to incorporate qualified genetic counselors, in collaboration with doctors and medical specialists to ensure that the patient receives the best, multidisciplinary healthcare service.

Who should see a genetic counselor?
People who commonly come for genetic counseling are individuals or couples who:

• •  Are 35 years or older at the time of delivery and want to learn more about prenatal screening and diagnostic testing options
• •  Have experienced multiple miscarriages
• •  Have a positive maternal serum screening result (2^nd trimester screening) or have a concern identified on an ultrasound examination
• •  Are carriers of a genetic disease such as thalassemia or sickle cell anemia
• •  Consanguineous couples – couples who are related; share the same blood relation
• •  Family history of an inherited condition such as cancer, blood disorders, neurogenic conditions, cystic fibrosis, hypertrophic cardiomyopathy, or muscular dystrophy with questions about genetic testing
• •  A family history of one individual diagnosed with a common condition but at a young age, such as a sister with breast cancer under age 50
• •  Have a child affected with a genetic condition
• •  Are concerned that their lifestyles, jobs or medical history may pose a risk to pregnancy, including exposure to drugs, radiation, chemicals, infection or medication
• •  Ethnicity based carrier testing – Would like more information about genetic diseases that occur more frequently in their ethnic group

A genetic counselor would always be happy to discuss referrals with a physician before they are made.