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Incidental Findings from Clinical Genome-Wide Sequencing: A Review.

There are several unresolved challenges associated with the clinical application of genome-wide sequencing technologies. One of the most discussed issues is incidental findings (IF), which are defined as discoveries made as a result of genetic testing that are unrelated to the indication for the tes...

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Publicado en:Journal of Genetic Counseling Vol. 23; no. 4; pp. 463 - 474
Autores principales: Lohn, Z., Adam, S., Birch, P., Friedman, J.
Formato: Journal Article
Publicado: Wiley-Blackwell Aug2014
Acceso en línea:Ver este registro en EBSCOhost
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      dt: Aug2014
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      pub: Wiley-Blackwell
      place: Malden, Massachusetts
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        atl: Incidental Findings from Clinical Genome-Wide Sequencing: A Review.
      aug:
        au:
          Lohn, Z.
          Adam, S.
          Birch, P.
          Friedman, J.
        affil: Department of Medical Genetics, University of British Columbia, Vancouver Canada
      sug:
        subj:
          Sequence Analysis
          Genomics
          Genetic Screening
          Genetic Counseling
          Professional Practice
          Systematic Review
          Human
          Medline
          Professional-Client Relations
          Truth Disclosure
          Research, Medical
          Data Analysis
          Patient Autonomy
          Consent
      ab: There are several unresolved challenges associated with the clinical application of genome-wide sequencing technologies. One of the most discussed issues is incidental findings (IF), which are defined as discoveries made as a result of genetic testing that are unrelated to the indication for the test. The discussion surrounding IF began in the context of research, which we have used to frame consideration of IF in the clinical context. There is growing consensus that analytically valid and medically actionable IF should be offered to patients, but whether and to what extent clinicians should disclose other kinds of IF is debated. While others have systematically reviewed the literature concerning genetic IF, previous reviews focus on ethical and research-related issues and do not consider the implications for the genetic counseling profession specifically. This review discusses the practical considerations, ethical concerns and genetic counseling issues related to IF, with a particular focus on clinical genome-wide sequencing. To date, the bulk of the literature with respect to IF in the clinical context consists of commentaries, reviews and case reports. There is a need for more empirical studies to provide a foundation for institutional protocols and evidence-based clinical practice standards.
      pubtype: Academic Journal
      doctype: Journal Article
      ougenre: Article
    language: English
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