ArticleEuropean journal of human genetics : EJHG2022
Widening the lens of actionability: A qualitative study of primary care providers' views and experiences of managing secondary genomic findings.
Article in European journal of human genetics : EJHG, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- General practitioners' (GPs) experience, attitudes and needs on clinical genetic services: a systematic review.Family medicine and community health · 2022Pooled it
- Findings from comprehensive genome sequencing in the Canadian population: Results from the GENCOV Study.Genetics in medicine open · 2026Article
- How people undergoing genomic sequencing interpret and react to varied secondary findings with limited actionability.Personalized medicine · 2025Article
- Parents' attitudes towards research involving genome sequencing of their healthy children: a qualitative study.European journal of human genetics : EJHG · 2024Article
- "I just wanted more": Hereditary cancer syndromes patients' perspectives on the utility of circulating tumour DNA testing for cancer screening.European journal of human genetics : EJHG · 2024Article
- A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings.Human genetics · 2022Article
- Establishing the Medical Actionability of Genomic Variants.Annual review of genomics and human genetics · 2022Review
- Validation of the multidimensional impact of Cancer Risk Assessment Questionnaire to assess impact of waiting for genome sequencing results.Psycho-oncology · 2022Article
- No gene to predict the future?European journal of human genetics : EJHG · 2022Article
Corrections and comments
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Authors and funding
14 authors at 4 institutions in 2 countries.
Funding
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.