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儿童携带者检测:澳大利亚遗传健康专业人员实践探索。

Carrier testing in children: exploration of genetic health professionals' practices in Australia.

机构信息

Centre for Health and Society, Melbourne School of Population and Global Health, University of Melbourne, Parkville, Australia.

1] Children's Bioethics Centre, Royal Children's Hospital, Parkville, Australia [2] School of Health Sciences, University of Melbourne, Parkville, Australia.

出版信息

Genet Med. 2015 May;17(5):380-5. doi: 10.1038/gim.2014.116. Epub 2014 Sep 18.

Abstract

PURPOSE

Despite genetic health professionals routinely providing carrier testing in adults, carrier testing in unaffected children after a sibling is diagnosed with a genetic condition remains controversial. The majority of international guidelines addressing genetic carrier testing in children recommend against providing this testing, yet little is known about current practice. This study aimed to determine whether genetic health professionals receive requests for carrier testing in unaffected children from parents of children with genetic conditions and whether they provide this testing.

METHODS

Semistructured interviews were conducted with 17 Australian genetic counselors and clinical geneticists and analyzed using inductive content analysis.

RESULTS

The genetic health professionals indicated that some parents do request carrier testing in their children, often after the diagnosis of a genetic condition in another child. Although all interviewees stated they initially advise against carrier testing, if the parents persist with their requests, then testing is occasionally provided. They indicated they consider factors such as the maturity of the child, anxiety of the parents, and potential medical benefit to make clinical judgments about when testing is appropriate, rather than relying solely on guidelines.

CONCLUSION

This study sheds light on current practices in carrier testing for children, validating this as an area that still requires attention.

摘要

目的

尽管遗传健康专业人员通常在成人中提供携带者检测,但在兄弟姐妹被诊断出遗传疾病后,对未受影响的儿童进行携带者检测仍然存在争议。大多数针对儿童遗传携带者检测的国际指南都建议不提供这种检测,但目前对实际做法知之甚少。本研究旨在确定遗传健康专业人员是否收到过有遗传疾病儿童的父母要求对其子女进行携带者检测的请求,以及他们是否提供这种检测。

方法

对 17 名澳大利亚遗传咨询师和临床遗传学家进行了半结构化访谈,并采用归纳内容分析法进行分析。

结果

遗传健康专业人员表示,一些父母确实会要求对其子女进行携带者检测,通常是在另一个孩子被诊断出遗传疾病之后。尽管所有受访者最初都表示反对携带者检测,但如果父母坚持要求进行检测,那么检测偶尔会被提供。他们表示,他们会考虑孩子的成熟度、父母的焦虑程度以及潜在的医疗益处等因素,来做出何时进行检测合适的临床判断,而不仅仅是依赖指南。

结论

本研究揭示了目前对儿童进行携带者检测的实践情况,证实了这仍然是一个需要关注的领域。

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