Responses

Download PDFPDF

Next-generation sequencing in childhood disorders
Compose Response

Plain text

  • No HTML tags allowed.
  • Web page addresses and e-mail addresses turn into links automatically.
  • Lines and paragraphs break automatically.
Author Information
First or given name, e.g. 'Peter'.
Your last, or family, name, e.g. 'MacMoody'.
Your email address, e.g. higgs-boson@gmail.com
Your role and/or occupation, e.g. 'Orthopedic Surgeon'.
Your organization or institution (if applicable), e.g. 'Royal Free Hospital'.
Statement of Competing Interests

PLEASE NOTE:

  • Responses are moderated before posting and publication is at the absolute discretion of BMJ, however they are not peer-reviewed
  • Once published, you will not have the right to remove or edit your response. Removal or editing of responses is at BMJ's absolute discretion
  • If patients could recognise themselves, or anyone else could recognise a patient from your description, please obtain the patient's written consent to publication and send them to the editorial office before submitting your response [Patient consent forms]
  • By submitting this response you are agreeing to our full [Response terms and requirements]

Vertical Tabs

Other responses

Jump to comment:

  • Published on:
    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...

    Show More
    Conflict of Interest:
    None declared.
  • Published on:
    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...

    Show More
    Conflict of Interest:
    None declared.