Inbreeding is one of the reasons for the rise in recessive genetic diseases in Saudi Arabia


The Saudi Society for Genetic Medicine, represented by the Genetic Awareness and Counseling Committee, organized a symposium on “Healthy Marriage and Genetics between Reality and Expectations”, with the participation of a number of specialists in a number of axes that included genetic diseases and their types, consanguineous marriage and genetic diseases, and genetic guidance for those about to marry, genetic testing and its applications in Prevention of genetic diseases, and a healthy marriage program in the Kingdom.

Dr. Zuhair Rahebini, the association’s official spokesman, said that the symposium emphasized the importance of spreading the culture of healthy marriage among members of society, especially among young people and those who are about to get married, understanding the current reality, standing on the most prominent challenges and providing the best solutions to confront genetic diseases. The symposium also revealed that the most common genetic diseases prevalent in Saudi society include sickle-cell disease and thalassemia, diseases related to intellectual disabilities, and metabolic diseases, in addition to dozens of rare genetic syndromes such as Bardet-Biedl syndrome and Michael Gruber syndrome.

“The human genome,” which is considered to be the genetic material that controls and transmits functional or formal genetic traits over the generations, pointed out that the symposium dealt with the “human genome”. He explained that when this complex substance is disturbed, this leads to what is known as genetic diseases, which are one of the most important causes of disabilities and deaths in children, especially in the Arab world, and revealed that according to the database available in the Arab region, there are approximately (700) genetic recessive diseases in the Kingdom of Saudi Arabia. Saudi Arabia in particular, and despite the spatial, cultural and social convergence between the Kingdom and other Arab countries, there are unique genetic causes that exist in Saudi society without other Arab societies.

For his part, Dr. Issa Fakih, Chairman of the Genetic Awareness and Counseling Committee, in the context of confronting developments in hereditary diseases and determining the genetic basis of these diseases, praised the Saudi Genome Project, which is one of the mega health projects whose central laboratory was launched by Crown Prince Mohammed bin Salman to be one of the strategic projects aimed at upgrading The level of living and public health in the Kingdom by facing these diseases, which have become a burden, as the annual cost of treating genetic diseases in the Kingdom, according to the website of the Saudi Human Genome Program, is estimated at about $ 30 billion. And he considered that the technical progress in genetic medicine with the revolution in DNA sequencing technologies (NGS) has facilitated the diagnosis and recognition of the nature of the genetic disease and the means of its treatment, which reflected positively on raising the quality of life among patients and families of those suffering from genetic diseases. And the possibility of conducting gene tests locally, as there are many techniques for those tests according to the patient’s condition and the nature of the disease, some of which are before marriage, some during pregnancy and many after birth.

Participants in the symposium suggested that “consanguineous marriage” is one of the reasons for the high incidence of recessive genetic diseases in the Kingdom, while genetic studies conducted on patients from the Saudi community with mental and motor disabilities indicate that genetic genetic mutations of the recessive type are the most prevalent compared to other genetic mutations. . They called for expanding the circle of knowledge to include segments of society, especially young people and those intending to marry, with the aim of preventing genetic diseases through a standardized and systematic expansion in conducting comprehensive genetic testing by using gene testing techniques in families as soon as a genetic disease is discovered for an individual and identifying disease carriers in families in which inbreeding is frequent . They emphasized the importance of the important role of specialists in providing genetic counseling to reduce the occurrence of genetic diseases among families, especially when choosing a life partner.

The symposium stressed the importance of genetic examinations in the present age of healthy marriage, especially when determining whether the spouses or one of them carries a genetic mutation that may result in a “genetically” sick child, especially in families with a clear family history. Where these genetic tests can determine the best ways, treatment methods and medical interventions suitable for the couple.

It also shows its importance in the possibility of using it in avoiding or reducing the rate of recurrence of genetic diseases through fetal genetic examination during pregnancy or through newly innovative methods such as cytogenetic examination before implantation. The symposium concluded by reviewing the efforts of the Saudi Society of Genetic Medicine in raising awareness in the community in general and those about to marry in particular, and the importance of the healthy marriage program in the detection of hereditary blood diseases and infectious diseases and limiting their spread.

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