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Professionally Responsible Disclosure of Genomic Sequencing Results in Pediatric Practice
Laurence B McCullough1, Kyle B Brothers2, Wendy K Chung3
1Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas; laurence.mccullough@bcm.edu.
Insights
Genomic sequencing in pediatrics presents interpretation challenges. This ethical framework guides responsible disclosure of results to families, ensuring informed decisions and managing uncertainty.
Area of Science:
- Genomic medicine
- Pediatric ethics
- Clinical genetics
Background:
- Genomic sequencing is increasingly used in pediatric care.
- Interpreting complex genomic results poses challenges for clinicians, parents, and patients.
- Professionally responsible disclosure and guidance are crucial.
Purpose of the Study:
- To provide an ethical framework for disclosing genomic sequencing results in pediatric practice.
- To guide and evaluate the responsible communication of complex genetic information.
- To support pediatricians in managing patient and parent understanding of genomic data.
Main Methods:
- Development of an ethical framework based on core pediatric ethics principles.
- Incorporation of the best interests of the child standard.
- Integration of parental surrogate decision-making and pediatric assent.
Main Results:
- The framework emphasizes explaining test scope, complexity, result categories, and incidental findings.
- It mandates obtaining parental informed permission and adolescent assent for sequencing and result return.
- It addresses the management of uncertain genomic data.
Conclusions:
- An ethical framework is essential for responsible genomic sequencing result disclosure in pediatrics.
- Key ethical principles must guide communication and decision-making.
- This framework supports clinicians in navigating the complexities of pediatric genomic medicine.
Abstract:
Genomic sequencing is being rapidly introduced into pediatric clinical practice. The results of sequencing are distinctive for their complexity and subsequent challenges of interpretation for generalist and specialist pediatricians, parents, and patients. Pediatricians therefore need to prepare for the professionally responsible disclosure of sequencing results to parents and patients and guidance of parents and patients in the interpretation and use of these results, including managing uncertain data. This article provides an ethical framework to guide and evaluate the professionally responsible disclosure of the results of genomic sequencing in pediatric practice. The ethical framework comprises 3 core concepts of pediatric ethics: the best interests of the child standard, parental surrogate decision-making, and pediatric assent. When recommending sequencing, pediatricians should explain the nature of the proposed test, its scope and complexity, the categories of results, and the concept of a secondary or incidental finding. Pediatricians should obtain the informed permission of parents and the assent of mature adolescents about the scope of sequencing to be performed and the return of results.
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