domingo, 20 de octubre de 2013

Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing : Genetics in Medicine : Nature Publishing Group

Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing : Genetics in Medicine : Nature Publishing Group

Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing

Journal name:
Genetics in Medicine
(2013)
DOI:
doi:10.1038/gim.2013.153
Received
Accepted
Published online

Abstract

Purpose:

Exome sequencing of a single individual for a clinical indication may result in the identification of incidental deleterious variants unrelated to the indication for testing (secondary findings). Given the recent availability of clinical exome testing, there is a limited knowledge regarding the disclosure preferences and impact of secondary findings in a clinical diagnostic setting. In this article, we provide preliminary data regarding the preferences for secondary findings results disclosure based on the first 200 families referred to Ambry Genetics for diagnostic exome sequencing.

Methods:

Secondary findings were categorized into four groups in the diagnostic exome sequencing consent: carrier status of recessive disorders, predisposition to later-onset disease, predisposition to increased cancer risk, and early-onset disease. In this study, we performed a retrospective analysis of patient responses regarding the preferences for secondary findings disclosure.

Results:

The majority of patients (187/200; 93.5%) chose to receive secondary results for one or more available categories. Adult probands were more likely than children to opt for blinding of secondary data (16 vs. 4%, respectively). Among responses for blinding, preferences were evenly scattered among categories.

Conclusion:

These data represent the unprecedented results of a large reference laboratory providing clinical exome sequencing. We report, for the first time, the preferences of patients and families for the receipt of secondary findings based on clinical genome sequencing. Overwhelmingly, families undergoing exome sequencing opt for the disclosure of secondary findings. The data may have implications regarding the development of guidelines for secondary findings reporting among patients with severe and/or life-threatening disease undergoing clinical genomic sequencing.
Genet Med advance online publication 10 October 2013
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Keywords:

clinical exome sequencing; genetic testing in minors; incidental findings; return of results; secondary findings

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Author information

Affiliations

  1. Ambry Genetics, Aliso Viejo, California, USA

    • Layla Shahmirzadi,
    • Elizabeth C. Chao,
    • Erika Palmaer,
    • Melissa C. Parra,
    • Sha Tang &
    • Kelly D. Farwell Gonzalez

  2. Division of Genetics and Metabolism, Department of Pediatrics, University of California, Irvine, California, USA

    • Elizabeth C. Chao

  3. Department of Pathology and Laboratory Medicine, University of California, Irvine, California, USA

    • Elizabeth C. Chao

Corresponding author

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  1. Supplementary Table S1 (36 KB)

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