New Genetic Test for Premarital Screening to Detect Hard-to-Treat Diseases

Couples in the UAE planning to marry can now opt for a genetic test as part of their mandatory premarital medical examination. This optional test, available free of charge, screens for over 570 genetic mutations linked to hereditary diseases such as cardiomyopathy, genetic epilepsy, spinal muscular atrophy, hearing loss, and cystic fibrosis.

The initiative aims to help couples make informed decisions about marriage and childbearing by identifying potential genetic risks.

Overview of Premarital Medical Screening

Mandatory for all citizens and expatriates, the UAE's premarital medical screening programme includes tests for infectious diseases like HIV, Hepatitis B & C, syphilis and genetic conditions such as Beta-thalassemia and sickle cell anemia. Launched in 2008, this screening also checks for German Measles (Rubella) and is valid for three months.

Optional Genetic Testing

The genetic test, although optional, is a critical addition to the mandatory screening. It examines genetic material for mutations that individuals may carry without symptoms. When both partners carry the same mutation, their children have a higher risk of developing severe, hard-to-treat genetic diseases.

Accessing the Genetic Test

The genetic test is available at three EHS health centres:

• Family Health Promotion Centre in Sharjah
• Julphar Health Centre in Ras Al Khaimah 
• AlFaseel Family Health Promotion Centre in Fujairah

Appointments can be booked through the EHS smart app, call centre, or by visiting the health centres directly. Results are provided within two weeks, and if a shared genetic mutation is detected, specialised consultants offer counseling and suggest options to the couple.

Counseling and Decision-Making

The role of genetic disease consultants in guiding couples is crucial. They provide appropriate counseling, answer questions and offer alternatives to help couples make informed decisions regarding their future marriage and childbearing.

Preventive Measures

The preventive aspect of genetic testing is the identification of inherited disease-causing genes; the test helps calculate the chances of passing these genes to children and offers solutions for couples wishing to proceed with marriage and parenthood. This approach aims to prevent the transmission of genetic diseases to future generations.

Integration with the Genome Programme

The integration of the Genome Programme capabilities into premarital screening reflects the UAE's commitment to a healthier community. This collaboration between the Department of Health (DoH) and Abu Dhabi Health Services Company (SEHA) is a preventive measure to maintain community health and well-being.

The programme aims to identify carriers of recessive genetic diseases and reveal the prospects of passing these conditions to offspring.

Pilot Phase and Future Plans

Currently in its pilot phase, the voluntary genetic screening has enrolled 264 Emirati couples. It examines 570 genes linked to more than 840 severe autosomal recessive diseases, which are relatively common in the UAE due to the high rate of consanguinity. The programme also links couples to reproductive medicine solutions and options.

Procedure and Counseling

Couples are encouraged to undergo genetic testing before marriage to formulate a proactive disease management plan. During their visit to the health centre, a physician provides a comprehensive overview of the testing process, goals, advantages and potential challenges.

If both partners test positive for a particular gene, they are informed of a 25 per cent chance of having offspring with a rare genetic condition. Couples receive full genetic counseling and explore various medical solutions, such as IVF, to minimise the risk of genetic abnormalities in their children.

In summary, the UAE's new genetic test as part of the mandatory premarital screening is a significant step towards preventing hereditary diseases, ensuring informed decision-making and promoting community health.

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