Uzair Mohammad, Fatima Rida, Rafiq Shafia, Jabeen Maimoona, Qaiser Hammad, Arshad Muhammad, Bashir Shahid
Department of Bioengineering, King Fahd University of Petroleum and Minerals, Dhahran, 31261, Saudi Arabia.
Department of Biological Sciences, International Islamic University, Islamabad, 44000, Pakistan.
J Community Genet. 2024 Dec;15(6):631-640. doi: 10.1007/s12687-024-00719-6. Epub 2024 Oct 1.
A higher rate of consanguineous marriages is associated with the increasing prevalence of genetic disorders, imposing a significant burden on families, public health, and healthcare systems. Genetic testing facilitates the earlier detection of disease and personalized treatment approaches. Therefore, this study aims to assess knowledge, awareness, attitudes, and concerns regarding genetic testing in the Pakistani population. Participants (n = 494) were asked about factors that influence attitudes toward undergoing genetic testing. Furthermore, the study also investigates the concerns and reservations held by the Pakistani population regarding genetic testing. Participants indicated that consanguineous marriages lead to an increased risk of hereditary disorders and agreed that knowledge of genetic diseases can improve the quality of life. Almost 80% of the respondents know the term, and the majority of them know about genetic testing. 87.7% of respondents agreed to genetic screening before marriage, and 39.9% were willing to undergo genetic testing. More knowledge was significantly associated with a higher likelihood of accepting genetic testing, indicating potential acceptance if integrated into standard procedures. Those with a family history of genetic disorders were more positive in accepting genetic testing. The level of understanding regarding genetic testing also influences the concerns. Cultural or religious beliefs may also affect the decision to accept genetic testing. The survey reveals diverse opinions and knowledge levels regarding genetic testing in Pakistan. While there was generally positive interest, concerns about privacy, accuracy, and cultural factors should be addressed. Education and awareness campaigns could help improve understanding and acceptance.
近亲结婚率的上升与遗传疾病患病率的增加相关，给家庭、公共卫生和医疗保健系统带来了沉重负担。基因检测有助于疾病的早期发现和个性化治疗方法。因此，本研究旨在评估巴基斯坦人群对基因检测的知识、意识、态度和担忧。研究询问了494名参与者影响其接受基因检测态度的因素。此外，该研究还调查了巴基斯坦人群对基因检测的担忧和保留意见。参与者表示近亲结婚会导致遗传疾病风险增加，并认同对遗传疾病的了解可以提高生活质量。近80%的受访者知道这个术语，其中大多数人了解基因检测。87.7%的受访者同意婚前进行基因筛查，39.9%的人愿意接受基因检测。更多的知识与接受基因检测的更高可能性显著相关，这表明如果将其纳入标准程序，可能会被接受。有遗传疾病家族史的人在接受基因检测方面更为积极。对基因检测的理解程度也会影响担忧程度。文化或宗教信仰也可能影响接受基因检测的决定。该调查揭示了巴基斯坦人对基因检测的不同意见和知识水平。虽然总体上有积极的兴趣，但对隐私、准确性和文化因素的担忧应得到解决。开展教育和提高意识的活动有助于增进理解和接受程度。
