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Qatar tribune

Tribune News network

Doha

As Qatar advances in improving the health of its population, tackling genetic disorders prevalent in consanguineous marriages has been a national health priority.

Tasnim Fadl, a genetic counsellor at Qatar Foundation’s (QF) Qatar Precision Health Institute (QPHI), explained the importance of premarital screening and how they are an extension of precision health.

“Consanguineous marriages increase the risk of certain genetic disorders. 54% of Qatari marriages are consanguineous, which increases the likelihood of certain genetic disorders up to 20 times,” said Fadl.

To address this challenge, Qatar launched a mandatory premarital screening program in 2009. The program includes a comprehensive range of screenings for infectious diseases, haemoglobin disorders such as anaemia, and genetic conditions like cystic fibrosis and spinal muscular atrophy.

Fadl explained: “These blood sample-based tests represent a preventive approach aimed at safeguarding the health of couples and their future children.”

One key goal of integrating precision medicine into the mandatory screening program is mapping the prevalence of genetic diseases among Qatar’s population. Fadl noted that such data not only enhances the screening process but also supports the development of broader health initiatives.

“Precision medicine provides a deeper understanding of genetic variations within the population, enabling us to improve and expand the scope of premarital screenings while offering more comprehensive genetic counselling to couples,” said Fadl.

She explained that by identifying genetic susceptibility to diseases, precision medicine empowers couples to make informed reproductive decisions. Rare genetic disorders such as Fragile X syndrome — a condition associated with cognitive and behavioural challenges— can be identified early on and avoided.

Fadl also highlighted the program’s cost-effectiveness, “By reducing the prevalence of genetic conditions, we alleviate long-term financial burden on the healthcare system.”

Discussing the challenges, Fadl noted that integrating genetic testing into mainstream healthcare is hindered by logistical obstacles and social stigma, particularly for women who might be at risk for certain conditions.

She said: “Ethical considerations also pose significant challenges. Determining which tests to include and how to communicate sensitive results requires a thoughtful approach tailored to local cultural contexts.

“As Qatar continues to advance in precision medicine, genetic premarital screening programs emerges as a promising pathway to a healthier society. However, achieving widespread adoption of precision medicine will take time and effort. Nevertheless, the long-term benefits of this approach are invaluable.”

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01/01/2025
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