Reporting incidental findings of genomic disorder-associated copy number variants to unselected biobank participants

Details

Serval ID
serval:BIB_3FBCEB3A9F4A
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Reporting incidental findings of genomic disorder-associated copy number variants to unselected biobank participants
Journal
Personalized Medicine
Author(s)
Leitsalu L., Alavere H., Jacquemont S., Kolk A., Maillard A.M., Reigo A., Noukas M., Reymond A., Mannik K., Ng P.C., Metspalu A.
ISSN
1744-828X
ISSN-L
1741-0541
Publication state
Published
Issued date
2016
Volume
13
Number
4
Pages
303-314
Language
english
Abstract
Background: Procedural guidelines for disclosure of incidental genomic information are lacking. Methods: We introduce a method and evaluated the impact of returning results to population biobank participants with 16p11.2 copy number variants, which are commonly associated with neurodevelopmental disorders and BMI imbalance. Of the 7877 participants, 11 carriers were detected. Eight participants were informed of their carrier status and surveyed 11-17 months later. Results: All participants demonstrated preference for disclosure. Although two participants experienced worry, all five survey respondents rated receiving this information favorably. One participant reported modifications in treatment and three felt that their treatment/condition had since improved. Conclusion: This approach can be adapted and applied for the return of incidental findings to biobank participants.
Keywords
16p11.2 CNV, genomic disorders, incidental findings, population biobank, return of results
Web of science
Create date
16/08/2016 12:58
Last modification date
20/08/2019 14:37
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