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墨西哥的遗传咨询需求评估。

A genetic counseling needs assessment of Mexico.

作者信息

Bucio Daiana, Ormond Kelly E, Hernandez Daisy, Bustamante Carlos D, Lopez Pineda Arturo

机构信息

Department of Genetics, School of Medicine, Stanford University, Stanford, California.

Department of Clinical Genetics and Genomics, Roy and Patricia Disney Family Cancer Center, Providence Saint Joseph Medical Center, Burbank, California.

出版信息

Mol Genet Genomic Med. 2019 May;7(5):e668. doi: 10.1002/mgg3.668. Epub 2019 Apr 1.

DOI:10.1002/mgg3.668
PMID:30938092
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6503023/
Abstract

BACKGROUND

While genetic counseling has expanded globally, Mexico has not adopted it as a separate profession. Given the rapid expansion of genetic and genomic services, understanding the current genetic counseling landscape in Mexico is crucial to improving healthcare outcomes.

METHODS

Our needs assessment strategy has two components. First, we gathered quantitative data about genetics education and medical geneticists' geographic distribution through an exhaustive compilation of available information across several medical schools and public databases. Second, we conducted semi-structured interviews of 19 key-informants from 10 Mexican states remotely with digital recording and transcription.

RESULTS

Across 32 states, ~54% of enrolled medical students receive no medical genetics training, and only Mexico City averages at least one medical geneticist per 100,000 people. Barriers to genetic counseling services include: geographic distribution of medical geneticists, lack of access to diagnostic tools, patient health literacy and cultural beliefs, and education in medical genetics/genetic counseling. Participants reported generally positive attitudes towards a genetic counseling profession; concerns regarding a current shortage of available jobs for medical geneticists persisted.

CONCLUSION

To create a foundation that can support a genetic counseling profession in Mexico, the clinical significance of medical genetics must be promoted nationwide. Potential approaches include: requiring medical genetics coursework, developing community genetics services, and increasing jobs for medical geneticists.

摘要

背景

虽然遗传咨询在全球范围内已得到扩展,但墨西哥尚未将其作为一个独立的专业领域。鉴于遗传和基因组服务的迅速扩张,了解墨西哥当前的遗传咨询情况对于改善医疗保健结果至关重要。

方法

我们的需求评估策略包括两个部分。首先,我们通过详尽收集几所医学院校和公共数据库中的现有信息,收集了有关遗传学教育和医学遗传学家地理分布的定量数据。其次,我们对来自墨西哥10个州的19名关键信息提供者进行了半结构化访谈,采用数字录音和转录的方式进行远程访谈。

结果

在32个州中,约54%的注册医学生未接受医学遗传学培训,只有墨西哥城平均每10万人中有至少一名医学遗传学家。遗传咨询服务的障碍包括:医学遗传学家的地理分布、缺乏诊断工具、患者的健康素养和文化信仰,以及医学遗传学/遗传咨询方面的教育。参与者普遍对遗传咨询专业持积极态度;对医学遗传学家目前可用工作岗位短缺的担忧仍然存在。

结论

为在墨西哥建立一个能够支持遗传咨询专业的基础,必须在全国范围内提升医学遗传学的临床重要性。潜在的方法包括:要求开设医学遗传学课程、发展社区遗传学服务,以及增加医学遗传学家的工作岗位。

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