The CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings.

IF 1.5 Q4 GENETICS & HEREDITY Journal of Community Genetics Pub Date : 2023-12-01 Epub Date: 2023-10-17 DOI:10.1007/s12687-023-00684-6
Julie A Beans, Susan Brown Trinidad, Aliassa L Shane, Kyle A Wark, Jaedon P Avey, Charlene Apok, Tiffany Guinn, Samantha Kleindienst Robler, Matthew Hirschfeld, David M Koeller, Denise A Dillard
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引用次数: 1

Abstract

Newborn screening in Alaska includes screening for carnitine palmitoyltransferase 1A (CPT1A) deficiency. The CPT1A Arctic variant is a variant highly prevalent among Indigenous peoples in the Arctic. In this study, we sought to elicit Alaska Native (AN) community member and AN-serving healthcare providers' knowledge and perspectives on the CPT1A Arctic variant. Focus groups with community members and healthcare providers were held in two regions of Alaska between October 2018 and January 2019. Thematic analysis was used to identify recurring constructs. Knowledge and understanding about the CPT1A Arctic variant and its health impact varied, and participants were interested in learning more about it. Additional education for healthcare professionals was recommended to improve providers' ability to communicate with family caregivers about the Arctic variant. Engagement with AN community members identified opportunities to improve educational outreach via multiple modalities for providers and caregivers on the Arctic variant, which could help to increase culturally relevant guidance and avoid stigmatization, undue worry, and unnecessary intervention. Education and guidance on the care of infants and children homozygous for the CPT1A Arctic variant could improve care and reduce negative psychosocial effects.

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CPT1A北极变体:阿拉斯加两个部落卫生环境中社区成员和提供者的观点。
阿拉斯加的新生儿筛查包括肉碱棕榈酰转移酶1A(CPT1A)缺乏症的筛查。CPT1A北极变体是一种在北极土著人民中高度流行的变体。在这项研究中,我们试图了解阿拉斯加原住民(AN)社区成员和AN服务的医疗保健提供者对CPT1A北极变种的知识和观点。2018年10月至2019年1月,在阿拉斯加的两个地区举行了由社区成员和医疗保健提供者组成的焦点小组。主题分析用于识别重复出现的结构。对CPT1A北极变种及其健康影响的知识和理解各不相同,参与者有兴趣了解更多关于它的信息。建议对医疗保健专业人员进行额外教育,以提高提供者与家庭护理人员就北极变种进行沟通的能力。与AN社区成员的接触确定了通过北极变体的提供者和照顾者的多种方式来改善教育外展的机会,这有助于增加与文化相关的指导,避免污名化、过度担忧和不必要的干预。对CPT1A北极变体纯合子婴儿和儿童的护理进行教育和指导可以改善护理并减少负面的心理社会影响。
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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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