Widening the lens of actionability: A qualitative study of primary care providers’ views and experiences of managing secondary genomic findings

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作者
Agnes Sebastian
June C. Carroll
Meredith Vanstone
Marc Clausen
Rita Kodida
Emma Reble
Chloe Mighton
Salma Shickh
Melyssa Aronson
Andrea Eisen
Christine Elser
Jordan Lerner-Ellis
Raymond H. Kim
Yvonne Bombard
机构
[1] University of Toronto,
[2] Li Ka Shing Knowledge Institute,undefined
[3] St. Michael’s Hospital,undefined
[4] Mount Sinai Hospital,undefined
[5] Sinai Health,undefined
[6] McMaster University,undefined
[7] Sunnybrook Hospital,undefined
[8] Lunenfeld-Tanenbaum Research Institute,undefined
[9] Sinai Health,undefined
[10] University Health Network,undefined
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摘要
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.
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页码:595 / 603
页数:8
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