PMID- 37847346
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20231219
IS  - 1868-310X (Print)
IS  - 1868-6001 (Electronic)
IS  - 1868-310X (Linking)
VI  - 14
IP  - 6
DP  - 2023 Dec
TI  - The CPT1A Arctic variant: perspectives of community members and providers in two 
      Alaska tribal health settings.
PG  - 613-620
LID - 10.1007/s12687-023-00684-6 [doi]
AB  - 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.
CI  - (c) 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, 
      part of Springer Nature.
FAU - Beans, Julie A
AU  - Beans JA
AD  - Research and Data Services Department, Southcentral Foundation, Anchorage, AK, 
      USA. jbeans@scf.cc.
FAU - Trinidad, Susan Brown
AU  - Trinidad SB
AD  - Department of Bioethics & Humanities, University of Washington, Seattle, WA, USA.
FAU - Shane, Aliassa L
AU  - Shane AL
AD  - Research and Data Services Department, Southcentral Foundation, Anchorage, AK, 
      USA.
FAU - Wark, Kyle A
AU  - Wark KA
AD  - Research and Data Services Department, Southcentral Foundation, Anchorage, AK, 
      USA.
FAU - Avey, Jaedon P
AU  - Avey JP
AD  - Research and Data Services Department, Southcentral Foundation, Anchorage, AK, 
      USA.
FAU - Apok, Charlene
AU  - Apok C
AD  - Cloudberry Consulting, Anchorage, AK, USA.
FAU - Guinn, Tiffany
AU  - Guinn T
AD  - Research and Data Services Department, Southcentral Foundation, Anchorage, AK, 
      USA.
FAU - Robler, Samantha Kleindienst
AU  - Robler SK
AD  - Norton Sound Health Corporation, Nome, AK, USA.
FAU - Hirschfeld, Matthew
AU  - Hirschfeld M
AD  - Maternal Child Health Services, Alaska Native Medical Center, Anchorage, AK, USA.
FAU - Koeller, David M
AU  - Koeller DM
AD  - Department of Molecular & Medical Genetics, Oregon Health & Science University, 
      Portland, OR, USA.
FAU - Dillard, Denise A
AU  - Dillard DA
AD  - Research and Data Services Department, Southcentral Foundation, Anchorage, AK, 
      USA.
LA  - eng
GR  - R01 HD089951/HD/NICHD NIH HHS/United States
GR  - S06 GM142122/GM/NIGMS NIH HHS/United States
PT  - Journal Article
DEP - 20231017
PL  - Germany
TA  - J Community Genet
JT  - Journal of community genetics
JID - 101551501
PMC - PMC10725401
OTO - NOTNLM
OT  - Alaska Native
OT  - Arctic variant
OT  - Carnitine palmitoyltransferase 1A (CPT1A)
OT  - Health education
OT  - Newborn screening
COIS- The authors declare no competing interests.
EDAT- 2023/10/17 12:42
MHDA- 2023/10/17 12:43
PMCR- 2023/12/01
CRDT- 2023/10/17 11:11
PHST- 2023/02/04 00:00 [received]
PHST- 2023/10/06 00:00 [accepted]
PHST- 2023/10/17 12:43 [medline]
PHST- 2023/10/17 12:42 [pubmed]
PHST- 2023/10/17 11:11 [entrez]
PHST- 2023/12/01 00:00 [pmc-release]
AID - 10.1007/s12687-023-00684-6 [pii]
AID - 684 [pii]
AID - 10.1007/s12687-023-00684-6 [doi]
PST - ppublish
SO  - J Community Genet. 2023 Dec;14(6):613-620. doi: 10.1007/s12687-023-00684-6. Epub 
      2023 Oct 17.