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中东地区的遗传咨询:医疗服务提供者对患者态度及文化挑战的看法

Genetic counseling in the Middle East: provider perspectives of patient attitudes and cultural challenges.

作者信息

Shenbagam Shruti, Taylor Alan, Jain Ruchi, Fakhro Khalid, Alkuraya Fowzan, Abou Tayoun Ahmad

机构信息

Dubai Health Genomic Medicine Center, Dubai Health, Dubai , United Arab Emirates.

Department of Human Genetics, Sidra Medicine, Doha, Qatar.

出版信息

Hum Genomics. 2025 May 20;19(1):59. doi: 10.1186/s40246-025-00770-5.

Abstract

Genomic advancements have led to increased utilization of genetic testing in clinical care, yet barriers to accessing genetic counseling and genomics services remain, particularly in the Middle East where inherited diseases are highly prevalent due to consanguinity. Limited knowledge of healthcare professionals' experiences in genetic counseling in the Middle East necessitates understanding their perspectives for better service improvement in the region. As a pilot, a survey of 32 healthcare professionals providing genetic counseling services in the Middle East explored provider experiences, patient attitudes and cultural/psychosocial factors related to genetic testing. Among the participants, 21 providers (65.6%), caring for patients of multiple ethnicities, including Arabs, recognised that there are unique challenges to counseling between these patient groups. Thematic data analysis identified that higher levels of consanguinity and stoic nature of the people are unique cultural considerations in the region. Language barriers and limited resources were identified as genetic counseling challenges. Overall, patients demonstrated good coping abilities with a genetic diagnosis. Eighteen responses (56%) highlighted an overall positive attitude, with increasing awareness and acceptance towards genetic testing. This study highlights the need for further research and interventions to address the unique challenges and improve genetic counseling services in the Middle East.

摘要

基因组学的进步使得基因检测在临床护理中的应用日益增加,但获取遗传咨询和基因组学服务仍存在障碍,尤其是在中东地区,由于近亲结婚,遗传性疾病非常普遍。由于对中东地区医疗保健专业人员在遗传咨询方面的经验了解有限,因此有必要了解他们的观点,以便更好地改善该地区的服务。作为一项试点,对32名在中东提供遗传咨询服务的医疗保健专业人员进行的一项调查,探讨了提供者的经验、患者的态度以及与基因检测相关的文化/心理社会因素。在参与者中,21名提供者(65.6%)照顾包括阿拉伯人在内的多个种族的患者,他们认识到在这些患者群体之间进行咨询存在独特的挑战。主题数据分析表明,较高的近亲结婚率和人们坚忍的性格是该地区独特的文化因素。语言障碍和资源有限被确定为遗传咨询面临的挑战。总体而言,患者对基因诊断表现出良好的应对能力。18份回复(56%)强调了总体上积极的态度,对基因检测的认识和接受程度不断提高。这项研究强调需要进一步开展研究和干预措施,以应对独特的挑战并改善中东地区的遗传咨询服务。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dab1/12093788/b54451c66d7b/40246_2025_770_Fig1_HTML.jpg

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