| Literature DB >> 33776058 |
Agnes Sebastian1,2, June C Carroll1,3, Meredith Vanstone4, Marc Clausen2, Rita Kodida2, Emma Reble2, Chloe Mighton1,2, Salma Shickh1,2, Melyssa Aronson1,3, Andrea Eisen5, Christine Elser3, Jordan Lerner-Ellis1,3,6, Raymond H Kim3,7, Yvonne Bombard8,9.
Abstract
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.Entities:
Mesh:
Year: 2021 PMID: 33776058 PMCID: PMC9091250 DOI: 10.1038/s41431-021-00876-z
Source DB: PubMed Journal: Eur J Hum Genet ISSN: 1018-4813 Impact factor: 5.351