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

• Published in: Journal of Community Genetics
• Main Authors: 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.
• Format: Text
• Language: English
• Published: Springer Berlin Heidelberg 2023
• Subjects: Research; Arctic; Alaska
• Online Access: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10725401/; http://www.ncbi.nlm.nih.gov/pubmed/37847346; https://doi.org/10.1007/s12687-023-00684-6

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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12687-023-00684-6.