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Next-generation sequencing in childhood disorders
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  • Published on: 22 March 2016
    Re: NGS : ethical and social considerations

    To the Editor,

    We are very pleased to see the comment from Dr Burke regarding the ethical and social considerations of Next Generation Sequencing, in response to our review.

    As we noted in our original article, the field is very complex, with a major issue being the interpretation of sequencing data, such that without follow up investigations many variants cannot be confidently assigned as either beni...

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    Conflict of Interest:
    None declared.
  • Published on: 22 March 2016
    NGS : ethical and social considerations

    The new paradigm in which children undergo genetic investigations acknowledges that genetic information belongs to families, as well as individuals. Recent ACMG guidance [1] requires clinical laboratories in the USA to 'screen' genomes for 56 highly penetrant mutations with 24 disease associations when undertaking next generation sequencing (NGS), regardless of the indication, the age of the patient, and their preferenc...

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    Conflict of Interest:
    None declared.