从来没有“完全准备好”:支持小组帮助家庭为患有遗传疾病的孩子做准备。

IF 1.5 Q4 GENETICS & HEREDITY
Kaitlynn P Craig, Kirsten A Riggan, Sabina Rubeck, Stephanie H Meredith, Megan A Allyse, Marsha Michie
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引用次数: 1

摘要

产前遗传筛查和检测的范围和广度迅速增加,导致接受这种遗传信息的家庭对产前支持的需求不断扩大。作为一项大型研究的一部分,我们调查了患有遗传疾病的儿童的产前准备,我们采访了患者倡导团体(PAGs)的代表,他们在诊断后支持父母。支持唐氏综合症家庭的团体往往是地方性或区域性的,而其他团体往往是全国性或国际性的。在做出继续怀孕的决定之前,小组的意愿或能力各不相同,参与者反映了他们通过个人咨询和转诊来解决这些需求的方式,如果需要的话。与会者描述了向父母提供有关家庭条件和一系列生活经历的信息,同时将家庭转介给医疗保健专业人员以解决技术问题和额外的医疗需求。PAGs还优先考虑将经历新诊断的父母与其他家庭联系起来,以获得同伴支持和社区建设,无论是当面还是在社交媒体上。与会者讨论了一些限制,例如缺乏种族一致的支持,提供非英语语言资源的能力,以及缺乏资金来满足家庭在诊断后表达的需求。总的来说,与会者强调,无论基因诊断如何,每个孩子的养育经历都是独一无二的,父母永远不可能“完全准备好”。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Never "totally prepared": Support groups on helping families prepare for a child with a genetic condition.

A rapid increase in the reach and breadth of prenatal genetic screening and testing has led to an expanding need for prenatal support of families receiving this genetic information. As part of a larger study investigating prenatal preparation for a child with a genetic condition, we interviewed representatives of patient advocacy groups (PAGs) who support parents post-diagnosis. Groups supporting families with Down syndrome were often local or regional, while other groups were often national or international in scope. Groups varied in their willingness or ability to support families prior to making a pregnancy continuation decision, and participants reflected on ways they addressed these needs with individual counseling and referrals, if needed. Participants described supporting parents with information about conditions and a range of lived experiences for families, while referring families to healthcare professionals for technical questions and additional medical needs. PAGs also prioritized connecting parents experiencing a new diagnosis with other families for peer support and community-building, both in person and on social media. Participants discussed limitations, such as a lack of racially-concordant support, ability to offer resources in languages other than English, and a lack of funding to meet the expressed needs of families post-diagnosis. Overall, participants emphasized that the parenting experience of each child is unique, irrespective of a genetic diagnosis, an experience for which parents can never be "totally prepared."

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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
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