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

Procedural guidelines for disclosure of incidental genomic information are lacking. 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 imbala...

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Bibliographic Details
Published in:Personalized medicine Vol. 13; no. 4; p. 303
Main Authors: Leitsalu, Liis, Alavere, Helene, Jacquemont, Sébastien, Kolk, Anneli, Maillard, Anne M, Reigo, Anu, Nõukas, Margit, Reymond, Alexandre, Männik, Katrin, Ng, Pauline C, Metspalu, Andres
Format: Journal Article
Language:English
Published: England 01.07.2016
Subjects:
return of results
incidental findings
16p11.2 CNV
genomic disorders
population biobank
ISSN:1741-0541, 1744-828X, 1744-828X
Online Access:Get more information
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Summary:Procedural guidelines for disclosure of incidental genomic information are lacking. 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. 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. This approach can be adapted and applied for the return of incidental findings to biobank participants.
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ISSN:1741-0541
1744-828X
1744-828X
DOI:10.2217/pme-2016-0009