Position paper on the return of additional genetic findings in minors

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.