Return of Whole-genome Sequencing Results in Paediatric Research: A Statement of the P3G International Paediatric Platform

Karine Sénécal, Bartha Maria Knoppers, Denise Avard, and Ma’n H Zawati along with the P3G International Paediatrics Platform members

Background: Whole-genome sequencing (WGS) is expected to have a significant impact on the field of human genetics in the near future. The sheer volume of information generated by WGS raises the question of whether or not to return such results. This dilemma is exacerbated in the context of paediatric research as particular issues are raised: the rights of parents to access their child’s genetic information; the best interests of the child; the right (not) to know; the utility of information; consent, and counseling.

Objective:The aim of this research was to develop guidance on how to address the return of WGS results in paediatric research. We worked with the P3G International Paediatric Platform to build a common tool.

Methods: To formulate the Statement, we: (a) reviewed the legal and ethical norms applicable to the European and Canadian research communities and the relevant literature to identify both existing and emerging guidance; (b) conducted a qualitative study of stakeholder groups; (c) developed recommendations; and (d) validated the recommendations through consultations with a large number of stakeholders (e.g. genetic researchers, community-based organizations).

Results: We will present a Statement that addresses the issues of when WGS results: i) should be returned; ii) should not be returned (and identify exceptional circumstances); and iii) described the procedures for the communication of results.

Limitations: Although we did not use a systematic approach to review the academic literature, the strength of these recommendations lies in the meaningful input from numerous stakeholders in the policy development process for an area as complex as genetic information.

Addressing the return of research results requires more than reliance on expert advice. The inclusion of perspectives from parents, community groups, researchers, and various health professionals was invaluable to drafting those Recommendations as it identified emerging issues and highlighted the need for flexibility, transparency and further reflection on the prevailing ethical questions.

Conclusion: These recommendations represent a cautious approach. It is anticipated that the Statement will not only provide a template for paediatric research using WGS, but also guide researchers and ethics committees.