Knowledge, attitudes and practises toward premarital genetic testing for rare genetic disorders among Omani families at Sultan Qaboos University Hospital
type: CreativeWork
description: In the Sultanate of Oman, the pronounced prevalence of consanguineous unions is associated with an elevated occurrence of rare autosomal recessive disorders. Presently, at the national level, the existing premarital screening (PMS) initiative primarily targets hemoglobinopathies, which are particularly prevalent within the country and not necessarily associated with consanguineous marriages. Conversely, there is an absence of a comprehensive national premarital screening programme to identify individuals at risk of rare genetic disorders. Premarital genetic testing (PMT) is currently provided at the two national genetic centres exclusively for family members deemed to be at risk, a strategy implemented as part of a familial-centred approach following the diagnosis. One of these two centres is the Genetics and Developmental Medicine Clinic (GDMC) at Sultan Qaboos University Hospital (SQUH) which provides this service following every newly diagnosed family for at-risk family members. Aim: To explore the knowledge, attitudes, and practices toward premarital genetic testing targeting familial mutation for rare genetic disorders. Methods: This cross-sectional quantitative study utilised a snowball sampling approach targeting the Omani families who were followed up by the GDMC at SQUH between 2012 and 2020 and had a confirmed diagnosis. The data were collected via an online Google questionnaire from 1118 participants who were officially registered in the records of the GDMC. The participants were invited to participate and were grouped into four categories based on their marital status, the number of offspring, and their children's health status: Group 1 (G1) were single or engaged individuals; Group 2 (G2) consisted of individuals who were married, divorced, or widowed without any children; Group 3 (G3) included individuals who were married, divorced, or widowed with healthy offspring; and finally, Group 4 (G4) were individuals who were married, divorced, or widowed and …
abstract: In the Sultanate of Oman, the pronounced prevalence of consanguineous unions is associated with an elevated occurrence of rare autosomal recessive disorders. Presently, at the national level, the existing premarital screening (PMS) initiative primarily targets hemoglobinopathies, which are particularly prevalent within the country and not necessarily associated with consanguineous marriages. Conversely, there is an absence of a comprehensive national premarital screening programme to identify individuals at risk of rare genetic disorders. Premarital genetic testing (PMT) is currently provided at the two national genetic centres exclusively for family members deemed to be at risk, a strategy implemented as part of a familial-centred approach following the diagnosis. One of these two centres is the Genetics and Developmental Medicine Clinic (GDMC) at Sultan Qaboos University Hospital (SQUH) which provides this service following every newly diagnosed family for at-risk family members. Aim: To explore the knowledge, attitudes, and practices toward premarital genetic testing targeting familial mutation for rare genetic disorders. Methods: This cross-sectional quantitative study utilised a snowball sampling approach targeting the Omani families who were followed up by the GDMC at SQUH between 2012 and 2020 and had a confirmed diagnosis. The data were collected via an online Google questionnaire from 1118 participants who were officially registered in the records of the GDMC. The participants were invited to participate and were grouped into four categories based on their marital status, the number of offspring, and their children's health status: Group 1 (G1) were single or engaged individuals; Group 2 (G2) consisted of individuals who were married, divorced, or widowed without any children; Group 3 (G3) included individuals who were married, divorced, or widowed with healthy offspring; and finally, Group 4 (G4) were individuals who were married, divorced, or widowed and …
author: Al, Fori Amel
keywords: Pathology
date published: 2025
date modified: 2026-07-22T22:23:30Z
provider: University of Cape Town
publisher: Networked Digital Library of Theses and Dissertations
type: WebPage
source organization: Department of Pathology

PropertyValue
property ID: Handle
value: http://hdl.handle.net/11427/41504