突尼斯的基因自我咨询者：健康教育在高中生血红蛋白病预防中的作用。

Genetic self-counselors in Tunisia: the role of health education in hemoglobinopathies prevention among high school students.

作者信息

Maaoui Foued, Moumni Imen, Arboix-Calas France, Safra Ines, Mnif Samia

机构信息

Laboratory of molecular and cellular hematology, Pasteur Institute of Tunis, Tunis, Tunisia.

ISEFC Bardo, Virtual University of Tunis, Tunis, Tunisia.

出版信息

Orphanet J Rare Dis. 2025 Aug 13;20(1):426. doi: 10.1186/s13023-025-03958-z.

DOI:10.1186/s13023-025-03958-z

PMID:40804721

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12344837/

Abstract

BACKGROUND

In Tunisia, the primary prevention of hemoglobinopathies relies on behavioral changes related to screening and genetic counseling. The progression in cognitive and functional literacy in human genetics serves as a crucial aspect of this transformation. In this study, we consider the possibility of genetic self-counseling, checking it in students with scientific or literary backgrounds.

METHODS

To assess potential for genetic self-counseling applied to sickle cell disease (SCD), we designed a questionnaire on SCD knowledge (SCDKA), then recruited 356 students (200 scientific students vs. 165 literary students). Since and there were no previous standards for classifying students according to their SCDKA score, we considered participants with an SCDKA score ≥ 70% correct answers as having a high literacy level. Statistical analysis of the results was carried out using chi-square tests and Fisher's, to compare the demographic and educational characteristics of the participants.

RESULTS

The analysis of responses to the various SCDKA items shows a lack of awareness about the hereditary origin of hemoglobinopathies. 97.8% of respondents did not recognize electrophoresis as a diagnostic technique. In terms of genetic literacy, the autosomal and recessive nature of hemoglobinopathies is not well understood. This explains why 41% and 74% of these students could not answer items on genetic transmission. The perception of controllability of hereditary diseases is higher among science students, as is the intention to inform their partner before procreation (56.5% vs. 24.35%, p < 0.001). Responses reveal that science section respondents have higher proactive preventive intentions compared to literature section students, as they recognize the usefulness of genetic counseling (75.5% vs. 47.43%, p < 0.001), premarital diagnosis (57.5% vs. 18.59%, p < 0.001), and prenatal diagnosis (61.5% vs. 13.46%, p < 0.001).

CONCLUSION

Currently, levels of health literacy and functional genetic literacy do not ensure genetic self-counseling for hemoglobinopathies prevention. The survey shows that having a scientific background was an advantage, but a detailed analysis of these students' results reveals average to low SCDKA scores.

摘要

背景

在突尼斯，血红蛋白病的一级预防依赖于与筛查和遗传咨询相关的行为改变。人类遗传学中认知和功能素养的提升是这一转变的关键方面。在本研究中，我们探讨了遗传自我咨询的可能性，并在有科学或文科背景的学生中进行了检验。

方法

为评估应用于镰状细胞病（SCD）的遗传自我咨询潜力，我们设计了一份关于SCD知识的问卷（SCDKA），然后招募了356名学生（200名理科学生和165名文科学生）。由于此前没有根据SCDKA分数对学生进行分类的标准，我们将SCDKA分数≥70%正确答案的参与者视为具有高素养水平。使用卡方检验和费舍尔检验对结果进行统计分析，以比较参与者的人口统计学和教育特征。

结果

对SCDKA各项问题的回答分析显示，对血红蛋白病遗传起源缺乏认识。97.8%的受访者不认为电泳是一种诊断技术。在遗传素养方面，对血红蛋白病的常染色体和隐性性质理解不足。这解释了为什么这些学生中有41%和74%无法回答关于遗传传递的问题。理科学生对遗传性疾病可控性的认知更高，在生育前告知伴侣的意愿也更高（56.5%对24.35%，p<0.001）。回答显示，与文科学生相比，理科学生的主动预防意愿更高，因为他们认识到遗传咨询（75.5%对47.43%，p<0.001）、婚前诊断（57.5%对18.59%，p<0.001）和产前诊断（61.5%对13.46%，p<0.001）的有用性。