Liis Leitsalu1,2, Helene Alavere1, Sébastien Jacquemont3, Anneli Kolk1,4, Anne M Maillard3, Anu Reigo1, Margit Nõukas1,2, Alexandre Reymond5, Katrin Männik1,5, Pauline C Ng1,6, Andres Metspalu1,2. 1. Estonian Genome Center, University of Tartu (EGCUT), Tartu, 51010, Estonia. 2. Institute of Molecular & Cell Biology, University of Tartu, Tartu, 51010, Estonia. 3. Service of Medical Genetics, Lausanne University Hospital, Lausanne, 1011, Switzerland. 4. Department of Neurology, Children's Clinic of Tartu University Hospital, Tartu, 50406, Estonia. 5. Center for Integrative Genomics, University of Lausanne, Lausanne, 1015, Switzerland. 6. Genome Institute of Singapore, Singapore, 138672, Singapore.
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.
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.
Entities:
Keywords:
16p11.2 CNV; genomic disorders; incidental findings; population biobank; return of results
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