Literature DB >> 29340884

"I would like to discuss it further with an expert": a focus group study of Finnish adults' perspectives on genetic secondary findings.

M Vornanen1, K Aktan-Collan2, N Hallowell3, H Konttinen4, H Kääriäinen5, A Haukkala2.   

Abstract

Lowered costs of genomic sequencing facilitate analyzing large segments of genetic data. Ethical debate has focused on whether and what kind of incidental or secondary findings (SFs) to report, and how to obtain valid informed consent. However, people's support needs after receiving SFs have received less attention. We explored Finnish adults' perspectives on reporting genetic SFs. In this qualitative study which included four focus group discussions (N = 23) we used four vignette letters, each reporting a genetic SF predisposing to a different disease: familial hypercholesterolemia, long QT syndrome, Lynch syndrome, and Li-Fraumeni syndrome. Transcribed focus group discussions were analyzed using inductive thematic analysis. Major themes were immediate shock, dealing with worry and heightened risk, fear of being left alone to deal with SFs, disclosing to family, and identified support needs. Despite their willingness to receive SFs, participants were concerned about being left alone to deal with them. Empathetic expert support and timely access to preventive care were seen as essential to coping with shock and worry, and disclosing SFs to family. Discussion around SFs needs to concern not only which findings to report, but also how healthcare systems need to prepare for providing timely access to preventive care and support for individuals and families.

Entities:  

Keywords:  Focus group; Incidental findings; Public perspective; Qualitative vignette study; Secondary findings; Whole genome sequencing

Year:  2018        PMID: 29340884      PMCID: PMC6002309          DOI: 10.1007/s12687-018-0356-6

Source DB:  PubMed          Journal:  J Community Genet        ISSN: 1868-310X


  35 in total

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Review 2.  Incidental findings from clinical genome-wide sequencing: a review.

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4.  Long-term psychological impact of carrying a BRCA1/2 mutation and prophylactic surgery: a 5-year follow-up study.

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5.  Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

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Journal:  Genet Med       Date:  2016-11-17       Impact factor: 8.822

Review 6.  Defining and managing incidental findings in genetic and genomic practice.

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9.  Research participant interest in primary, secondary, and incidental genomic findings.

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Review 10.  Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies.

Authors:  Michael P Mackley; Benjamin Fletcher; Michael Parker; Hugh Watkins; Elizabeth Ormondroyd
Journal:  Genet Med       Date:  2016-09-01       Impact factor: 8.822

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  1 in total

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