Ethical and Policy Considerations for Genomic Testing in Pediatric Research: The Path Toward Disclosing Individual Research Results

Abstract

DNA is now commonly collected in clinical research either for immediate genomic analyses or stored for future studies. Many genomic studies were previously designed without awareness of the ethical issues that might arise regarding the disclosure of genomic test results. At the start of the Chronic Kidney Disease in Children (CKiD) Cohort Study in 2004, we did not foresee the advent of genomic technology or the associated ethical issues pertaining to genetic research in children. Recent genomic studies and ancillary proposals using genomic technology stimulated the CKiD investigators to reassess the current ethical and policy environment pertaining to genomic testing and results disclosure. We consider the issues pertaining to next generation sequencing and individual results disclosure that may guide current and future research practices.

Keywords: DNA collection; Genomics; adolescent; children; chronic kidney disease (CKD); disclosure; ethics; genetic disease; human subjects protections; incidental finding; informed consent; pediatric; review.

Copyright © 2019 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

Figures

Figure 1.

Flow chart to guide potential disclosure of individual results. Adapted from the Boston Children’s Hospital Gene Partnership Informed Cohort Oversight Board, as depicted in Holm et al, with permission of Springer Nature. Original flow chart © American College of Medical Genetics and Genomics.

Figure 2.

Disclosure guidelines by participant age. After analytically and clinically valid results are available and reviewed by the designated committee, individual research results are disclosed according to participant preferences by age groups. Adapted from the Boston Children’s Hospital Gene Partnership Informed Cohort Oversight Board, as depicted in Holm et al, with permission of Springer Nature. Original flow chart © American College of Medical Genetics and Genomics.