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Position paper on the return of additional genetic findings in minors

  • Martin Jungkunz (Author)
    National Center for Tumor Diseases (NCT), NCT Heidelberg is a partnership between DKFZ and Heidelberg University Hospital, Germany, German Cancer Research Center (DKFZ)
  • Kai Cornelius (Author)
    Hamburg University
  • Christoph Schickhardt (Author)
    National Center for Tumor Diseases (NCT), NCT Heidelberg is a partnership between DKFZ and Heidelberg University Hospital, Germany, German Cancer Research Center (DKFZ) Heidelberg, Heidelberg University, Medical Faculty Heidelberg, Department of Medical Oncology, Section Translational Medical Ethics
  • Nicola Dikow (Author)
    Heidelberg University, Heidelberg University Hospital
  • Eva Winkler (Author)
    National Center for Tumor Diseases (NCT), NCT Heidelberg is a partnership between DKFZ and Heidelberg University Hospital, Germany, Heidelberg University, Medical Faculty Heidelberg, Department of Medical Oncology, Section Translational Medical Ethics
  • Benedikt Brors (Author)
    German Cancer Research Center (DKFZ) Heidelberg, Germany, Heidelberg University
  • Stefan Fröhling (Author)
    National Center for Tumor Diseases (NCT), NCT Heidelberg is a partnership between DKFZ and Heidelberg University Hospital, Germany, German Cancer Research Center (DKFZ) Heidelberg, Heidelberg University
  • Karin Greulich-Bode (Author)
    German Cancer Research Center (DKFZ) Heidelberg
  • Irina Idler (Author)
    National Center for Tumor Diseases (NCT), NCT Heidelberg, a partnership between DKFZ and Heidelberg University Hospital, Germany, German Cancer Research Center (DKFZ) Heidelberg, Heidelberg University, Medical Faculty Heidelberg, Department of Medical Oncology, Section Translational Medical Ethics (until 2021), Johner Institut GmbH
  • Peter Lichter (Author)
    National Center for Tumor Diseases (NCT), NCT Heidelberg is a partnership between DKFZ and Heidelberg University Hospital, Germany, German Cancer Research Center (DKFZ) Heidelberg, Heidelberg University
  • Till Milde (Author)
    Hopp Children’s Cancer Center (KiTZ), Heidelberg, German Cancer Research Center (DKFZ) Heidelberg, German Cancer Consortium (DKTK), DKFZ, core center Heidelberg, Germany, Heidelberg University, Heidelberg University Hospital, National Center for Tumor Diseases (NCT), NCT Heidelberg, a partnership between DKFZ and Heidelberg University Hospital, Germany.
  • Stefan Pfister (Author)
    Hopp Children’s Cancer Center (KiTZ), Heidelberg, German Cancer Research Center (DKFZ) Heidelberg, German Cancer Consortium (DKTK), DKFZ, core center Heidelberg, Germany, Heidelberg University, Heidelberg University Hospital, National Center for Tumor Diseases (NCT), NCT Heidelberg, a partnership between DKFZ and Heidelberg University Hospital, Germany.
  • Christian Schaaf (Author)
    Heidelberg University, Heidelberg University Hospital
  • Stefan Wiemann (Author)
    German Cancer Research Center (DKFZ) Heidelberg, Germany, Heidelberg University

Identifiers (Article)

Abstract

In modern medicine, particularly in the fields of oncology and rare diseases, genetic diagnostics has become increasingly important in recent years. Steady progress in sequencing technology and consequently decreasing costs now allow exploratory testing using large gene panels and even whole genome sequencing. These methods offer great potential for more refined and faster diagnosis. At the same time, however, the large amount of data generated increases the likelihood that, in addition to the primary health-related information sought (primary findings), other genetic changes relevant to future health will be discovered (additional findings).

Dealing with additional genetic findings always poses a challenge when carrying out the informed consent process prior to genetic testing. This applies, in particular, to additional genetic findings in minors, since in this case the parents or other legal guardians make the decision regarding the handling of additional genetic findings on behalf of those minors. Such proxy decisions pose a particular ethical challenge if the implications of this decision become relevant only in the child's adulthood, e.g., when a predisposition to a late-onset disease is identified.

Thus far, no general recommendations on guidelines for an adequate informed consent process regarding the return of additional genetic findings in minors have been developed. With the present statement, the Heidelberg Group EURAT aims to close this gap and provide recommendations for the handling of additional genetic findings in minors. These recommendations are based on detailed legal and ethical analyses and explicitly address establishing an adequate informed consent process that attempts to minimize the likelihood of potential conflicts when returning additional genetic findings in minors. In addition to the recommendations, the EURAT Group provides an information brochure, as well as text modules for the informed consent process regarding the handling of additional genetic findings in minors.

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Published (Versions)

Language
English
Academic discipline and sub-disciplines
Ethics, Law, Human Genetics, Pediatrics
Keywords
Whole genome sequencing, additional findings, translational medicine, pediatrics, predictive diagnostics, ethics, law