Reporting practices for unsolicited and secondary findings from next‐generation sequencing technologies: Perspectives of laboratory personnel Article Swipe
Danya F. Vears
,
Karine Sénécal
,
Pascal Borry
·
YOU?
·
· 2017
· Open Access
·
· DOI: https://doi.org/10.1002/humu.23259
YOU?
·
· 2017
· Open Access
·
· DOI: https://doi.org/10.1002/humu.23259
While next-generation sequencing (NGS) has enormous potential to identify genetic causes of disease, the nature of the technology means that it can also identify additional information about the individual receiving sequencing that is unrelated to the original rationale for testing. Reporting these unsolicited findings (UF) to clinicians, and subsequently to patients, could lead to potentially lifesaving interventions. Most international guidelines provide limited specific recommendations as to whether these UF should be reported. Little research has been conducted exploring which of these variants are reported in practice. Twenty-six interviews were conducted with 27 laboratory personnel, representing 24 laboratories in Europe (12), Canada (five), and Australasia (Seven) to explore their reporting practices. There is considerable variation between laboratories in the reporting of UF. While some limit their reporting to findings that are relevant to the clinical question, others report UF to varying degrees. In addition, most laboratory personnel interviewed said that their laboratories do not actively search for secondary findings in disease-causing genes unrelated to the clinical question, such as those suggested by the American College of Medical Genetics and Genomics. Our study highlights that laboratories are still grappling with decisions about which UF to report from NGS and are calling for more guidance.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/humu.23259
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.23259
- OA Status
- bronze
- Cited By
- 36
- References
- 28
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2615289984
All OpenAlex metadata
Raw OpenAlex JSON
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https://openalex.org/W2615289984Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1002/humu.23259Digital Object Identifier
- Title
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Reporting practices for unsolicited and secondary findings from next‐generation sequencing technologies: Perspectives of laboratory personnelWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2017Year of publication
- Publication date
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2017-05-17Full publication date if available
- Authors
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Danya F. Vears, Karine Sénécal, Pascal BorryList of authors in order
- Landing page
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https://doi.org/10.1002/humu.23259Publisher landing page
- PDF URL
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.23259Direct link to full text PDF
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YesWhether a free full text is available
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bronzeOpen access status per OpenAlex
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.23259Direct OA link when available
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Psychological intervention, Biology, Genomic sequencing, Genetic testing, Medical education, Family medicine, Medicine, Genetics, Genome, Nursing, GeneTop concepts (fields/topics) attached by OpenAlex
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36Total citation count in OpenAlex
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2025: 3, 2024: 3, 2023: 6, 2022: 1, 2021: 2Per-year citation counts (last 5 years)
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28Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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