Literature DB >> 33776058

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

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.
© 2021. The Author(s), under exclusive licence to European Society of Human Genetics.

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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


  1 in total

1.  Patients' views on incidental findings from clinical exome sequencing.

Authors:  Kristin E Clift; Colin M E Halverson; Alexander S Fiksdal; Ashok Kumbamu; Richard R Sharp; Jennifer B McCormick
Journal:  Appl Transl Genom       Date:  2015-02-21
  1 in total
  2 in total

1.  No gene to predict the future?

Authors:  Alisdair McNeill
Journal:  Eur J Hum Genet       Date:  2022-05       Impact factor: 5.351

2.  Validation of the multidimensional impact of Cancer Risk Assessment Questionnaire to assess impact of waiting for genome sequencing results.

Authors:  Megan Best; Christine Napier; Timothy Schlub; Nicci Bartley; Barbara Biesecker; Mandy Ballinger; Phyllis Butow
Journal:  Psychooncology       Date:  2022-03-01       Impact factor: 3.955

  2 in total

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