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探索遗传咨询师在为患有神经发育疾病的儿科患者进行过渡性护理讨论中的兴趣和作用。

Exploring genetic counselors' interest and role in transitional care discussions for pediatric patients with neurodevelopmental conditions.

作者信息

Lombard Molly, Wetherill Leah, Ivanovich Jennifer, Hamby Deborah, Neidlinger Trisha

机构信息

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.

Indiana University Health Physicians, Indianapolis, Indiana, USA.

出版信息

J Genet Couns. 2025 Jun;34(3):e1992. doi: 10.1002/jgc4.1992. Epub 2024 Nov 14.

Abstract

Previous studies have examined the perspectives of healthcare providers regarding their role in the transition process of pediatric patients with neurodevelopmental conditions (NDCs), but the perspective of a genetic counselor has yet to be considered. This study explored genetic counselors' current practices and attitudes regarding care for pediatric patients with NDCs as they transition into adult care. Genetic counselors (GCs) currently seeing patients with NDCs were recruited through a cross-sectional online survey. Questions included demographics, current practices with patients aged 0-15 years vs. patients 16-22 years, self-confidence, attitudes, and barriers regarding a genetic counselor's role in medical transition. A total of 51 surveys were included in the analysis. The majority (76.7%) of GCs were interested in playing a role in the transition process. Furthermore, all participants perceived transition planning for pediatric genetic patients with NDCs as somewhat important or important. Most GCs (70.0%) discussed topics of transition with patients over 18 years of age. These results demonstrate GCs' interest in assisting patients and families with the transition of individuals. Incorporating a genetic counselor skill set into transition discussions with patients with NDCs could improve the transition process and help to meet the standards of care called for by the American Academy of Pediatrics.

摘要

以往的研究探讨了医疗服务提供者对于他们在患有神经发育疾病(NDCs)的儿科患者转诊过程中所扮演角色的看法,但尚未考虑遗传咨询师的观点。本研究探讨了遗传咨询师在患有NDCs的儿科患者向成人护理过渡时对其护理的当前实践和态度。通过横断面在线调查招募了目前正在为患有NDCs的患者提供咨询的遗传咨询师(GCs)。问题包括人口统计学信息、针对0至15岁患者与16至22岁患者的当前实践、自信程度、态度以及遗传咨询师在医疗转诊中所扮演角色的障碍。分析共纳入了51份调查问卷。大多数(76.7%)的遗传咨询师有兴趣在转诊过程中发挥作用。此外,所有参与者都认为为患有NDCs的儿科遗传患者制定转诊计划有些重要或非常重要。大多数遗传咨询师(70.0%)与18岁以上的患者讨论过转诊话题。这些结果表明遗传咨询师有兴趣协助患者及其家庭进行个体转诊。将遗传咨询师的技能组合纳入与患有NDCs的患者的转诊讨论中,可能会改善转诊过程,并有助于达到美国儿科学会所要求的护理标准。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6811/12041836/fb27b4c6b4ec/JGC4-34-0-g002.jpg

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