Widening the lens of actionability: A qualitative study of primary care providers' views and experiences of managing secondary genomic findings.
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
05 2022
05 2022
Historique:
received:
10
12
2020
accepted:
16
03
2021
revised:
10
03
2021
pubmed:
30
3
2021
medline:
14
5
2022
entrez:
29
3
2021
Statut:
ppublish
Résumé
Most secondary genomic findings (SFs) fall in the scope of primary care practice. However, primary care providers' (PCPs) capacity to manage these findings is not well understood. We explored PCPs' views and experiences of managing SFs through a qualitative study. PCPs participated in semi-structured interviews about SFs from a patient in their practice or a hypothetical patient. The interpretive descriptive methodology was used to analyze transcripts thematically through constant comparison. Fifteen family physicians from Ontario, Canada participated (ten females; 6-40 years in practice across community and academic settings). PCPs made sense of SFs through the lens of actionability: they actively looked for clinical relevance by considering a wide range of immediate and future actions, including referrals, genetic testing, screening, lifestyle changes, counseling about family planning, informing family members, future medication choice, increased vigilance/surveillance, and managing results in the electronic medical record. PCPs saw clinical actionability as the main benefit mitigating the potential harms of learning SFs, namely patient anxiety and unnecessary investigations. PCPs conceptualized actionability more broadly than it is traditionally defined in medical genetics. Further research will be needed to determine if PCPs' emphasis on actionability conflicts with patients' expectations of SFs and if it leads to overutilization of healthcare resources.
Identifiants
pubmed: 33776058
doi: 10.1038/s41431-021-00876-z
pii: 10.1038/s41431-021-00876-z
pmc: PMC9091250
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
595-603Subventions
Organisme : CIHR
Pays : Canada
Informations de copyright
© 2021. The Author(s), under exclusive licence to European Society of Human Genetics.
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