The odyssey of diagnosing genetic disorders in evolving health services

Salih, Mustafa A.; Swar, Mohammed Osman

doi:10.24911/sjp.106-1557046594

Cited by 3 publications

(1 citation statement)

References 24 publications

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“…On the other hand, it is widely accepted that consanguineous marriages have been shown to increase the risk of genetic disorders, including inherited metabolic disorders and recessive genetic disorders. In Sudan, the prevalence of consanguineous marriages is among the highest, with rates ranging from 40% to 60% in some regions of the country ( Elamin W, 2017). This high rate of consanguinity is believed to contribute to the high prevalence of genetic disorders in Sudan.…”

Section: Discussionmentioning

confidence: 99%

Methylation of alpha-synuclein in a Sudanese cohort

Bakhit

Schmitt

Hamed

et al. 2022

Parkinsonism & Related Disorders

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Section: Discussionmentioning

confidence: 99%

Methylation of alpha-synuclein in a Sudanese cohort

Bakhit

Schmitt

Hamed

et al. 2022

Parkinsonism & Related Disorders

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Consanguinity and willingness to perform premarital genetic screening in Sudan

Elhadi,

Alrawa,

Alfadul

et al. 2023

Eur J Hum Genet

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Consanguineous marriage is prevalent in certain world regions due to cultural, economic, and social reasons. However, it can lead to negative consequences including an increased risk of genetic disorders in offspring. Premarital genetic screening (PMGS) is an important tool to identify and manage these risks before marriage. This study aimed to assess the magnitude of consanguineous marriage, knowledge of genetic diseases and PMGS, and attitudes and willingness to perform PMGS in Sudan. A national household survey was conducted using a multistage sampling technique, with a sample size of 2272 participants. Data were collected from December 2022 to March 2023 using an interviewer-administered questionnaire. A significant proportion of respondents (364/850, 42.8%) were married to consanguineal partners, with various types of relatedness. Moreover, 32.1% (242/755) of single respondents were planning to marry a close relative, signifying the likely persistence of consanguineous marriages in Sudan. The level of knowledge regarding genetic diseases and PMGS was relatively low in many states of Sudan, indicating the need for increased awareness interventions. A significant number of participants (85.2%) agreed that premarital screening is effective in reducing genetic diseases, whereas 71.2% supported the introduction of a mandatory PMGS program. Excluding married participants, 82.3% (1265/1537) of respondents were willing to perform PMGS, if implemented. These findings reflect the public positive attitude towards introducing the PMGS program and policies in Sudan and underscore the importance of addressing the knowledge gap of PMGS before such a potential implementation.

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