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Attitudes towards Genetic Information Delivered by High-Throughput Sequencing among Molecular Geneticists, Genetic Counselors, Medical Advisors and Students in France.
European Journal of Medical Genetics ( IF 1.9 ) Pub Date : 2019-09-16 , DOI: 10.1016/j.ejmg.2019.103770
Vlad Titerlea 1 , Doulaye Dembélé 2 , Jean-Louis Mandel 2 , Jocelyn Laporte 2
Affiliation  

High-throughput sequencing technologies performed in the clinical setting have the potential to reveal diverse genetic information. Whether it is initially targeted or unsolicited, strictly medical or not, or even information on a carrier status as part of preconception screening, access to genetic information needs to be managed. The aim of the current study was to gather potential attitudes of various stakeholders towards the sharing of genetic information from next-generation sequencing, and more specifically towards incidental findings, predictive findings, non-medical information and carrier status. Answers from a total number of 1631 individuals belonging to four different groups (45 molecular geneticists, 65 genetic counselors, 56 medical advisors to the state insurance plan, and 1465 university students) were collected through online questionnaires. Overall, the study reflects preferences towards the return of health risks related to serious diseases when effective treatment is available and information on reproductive risks. The importance of the perceived medical utility, both for disease prevention and treatment, was the main distinguishing feature. Attitudes from genetic health professionals were found more reluctant to receive a wide range of information. Hands-on experience with the practice of genetic testing is likely to influence perception of the utility of the genetic information that should be delivered. At the same time, perceptions of preconception genetic carrier screening brought out less differences between participants. Better understanding of the underlying interest in genomic information and thorough education on its value and usage are key elements to the adoption of future guidelines and policy that respect bioethical principles.



中文翻译:

法国分子遗传学家,遗传顾问,医学顾问和学生对通过高通量测序的遗传信息的态度。

在临床环境中进行的高通量测序技术具有揭示多种遗传信息的潜力。无论是最初的针对性还是未经请求的,严格的医疗条件与否,或者甚至作为先孕筛查的一部分,有关携带者状况的信息,都需要管理对遗传信息的获取。当前研究的目的是收集各种利益相关者对下一代测序的遗传信息共享的潜在态度,更具体地说,是对偶然发现,预测发现,非医学信息和携带者状况的态度。来自四个不同类别的总共1631名个人的答案(45位分子遗传学家,65位遗传顾问,56位国家保险计划的医学顾问,和1465名大学生)通过在线问卷收集。总体而言,该研究反映了在可获得有效治疗的情况下,人们倾向于重返与严重疾病相关的健康风险,以及有关生殖风险的信息。主要的医学特征是对疾病预防和治疗的感知医学效用的重要性。发现遗传卫生专业人员的态度更不愿接受广泛的信息。进行基因测试的实践经验可能会影响对应该传递的遗传信息效用的看法。同时,对受孕前遗传载体筛选的认识减少了参与者之间的差异。

更新日期:2019-09-16
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