Beans Julie A, Trinidad Susan Brown, Shane Aliassa L, Wark Kyle A, Avey Jaedon P, Apok Charlene, Guinn Tiffany, Robler Samantha Kleindienst, Hirschfeld Matthew, Koeller David M, Dillard Denise A
Research and Data Services Department, Southcentral Foundation, Anchorage, AK, USA.
Department of Bioethics & Humanities, University of Washington, Seattle, WA, USA.
J Community Genet. 2023 Dec;14(6):613-620. doi: 10.1007/s12687-023-00684-6. Epub 2023 Oct 17.
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.
阿拉斯加的新生儿筛查包括对肉碱棕榈酰转移酶1A（CPT1A）缺乏症的筛查。CPT1A北极变体是北极地区原住民中高度流行的一种变体。在本研究中，我们试图了解阿拉斯加原住民（AN）社区成员以及为AN提供服务的医疗保健提供者对CPT1A北极变体的了解和看法。2018年10月至2019年1月期间，在阿拉斯加的两个地区与社区成员和医疗保健提供者举行了焦点小组讨论。采用主题分析法来确定反复出现的概念。对CPT1A北极变体及其健康影响的了解和认识各不相同，参与者有兴趣进一步了解它。建议为医疗保健专业人员提供更多教育，以提高他们与家庭护理人员就北极变体进行沟通的能力。与AN社区成员的接触确定了通过多种方式改善针对提供者和护理人员的北极变体教育推广的机会，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北极变体纯合子的婴幼儿护理进行教育和指导，可以改善护理并减少负面的社会心理影响。
