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Addressing the ethical challenges in genetic testing and sequencing of children
Ellen Wright Clayton1, Laurence B McCullough, Leslie G Biesecker
1a Vanderbilt University.
Insights
The American Academy of Pediatrics and American College of Medical Genetics offer differing recommendations for predictive genetic testing in children. Their ethical approaches to decision-making, risks, and benefits present significant tensions.
Area of Science:
- Medical Ethics
- Pediatric Genetics
- Clinical Decision-Making
Background:
- Two major organizations, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics (ACMG), have issued distinct recommendations regarding predictive genetic testing for children.
- These recommendations address critical operational and ethical considerations for pediatric genetic testing decisions.
Purpose of the Study:
- To compare and analyze the AAP and ACMG recommendations on predictive genetic testing in children.
- To examine how each guideline characterizes decision-making locus, risks, and benefits.
- To identify potential conflicts or compatibilities between the guidelines based on differing testing scenarios.
Main Methods:
- Content analysis of the official statements from the AAP and ACMG.
- Focus on the ethical frameworks and operational aspects of decision-making for pediatric genetic testing.
- Comparison of how risks, benefits, and reporting of results are handled in each recommendation.
Main Results:
- The AAP/ACMG guidelines prioritize the child's best interests, generally advising against testing unless immediate interventions are available, with parents authorizing focused tests.
- The ACMG guidelines consider the interests of the child and family, recommending examination of sequencing results for any variants leading to interventions at any age, with parental consent for additional analysis.
- Significant ethical tensions exist between the two sets of recommendations regarding the scope of testing and reporting of incidental findings.
Conclusions:
- The AAP and ACMG recommendations present ethically divergent approaches to pediatric predictive genetic testing.
- The differing perspectives highlight a tension between a child's best interests and broader family interests, as well as the implications of comprehensive genomic sequencing.
- Further discussion is needed to reconcile these ethical viewpoints for consistent clinical practice.
Abstract:
American Academy of Pediatrics (AAP) and American College of Medical Genetics (ACMG) recently provided two recommendations about predictive genetic testing of children. The Clinical Sequencing Exploratory Research Consortium's Pediatrics Working Group compared these recommendations, focusing on operational and ethical issues specific to decision making for children. Content analysis of the statements addresses two issues: (1) how these recommendations characterize and analyze locus of decision making, as well as the risks and benefits of testing, and (2) whether the guidelines conflict or come to different but compatible conclusions because they consider different testing scenarios. These statements differ in ethically significant ways. AAP/ACMG analyzes risks and benefits using best interests of the child and recommends that, absent ameliorative interventions available during childhood, clinicians should generally decline to order testing. Parents authorize focused tests. ACMG analyzes risks and benefits using the interests of the child and other family members and recommends that sequencing results be examined for additional variants that can lead to ameliorative interventions, regardless of age, which laboratories should report to clinicians who should contextualize the results. Parents must accept additional analysis. The ethical arguments in these statements appear to be in tension with each other.
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