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Genomic newborn screening: public health policy considerations and recommendations
Jan M Friedman1,2, Martina C Cornel3,4, Aaron J Goldenberg5
1Department of Medical Genetics, University of British Columbia, Vancouver, Canada. jan.friedman@ubc.ca.
Insights
Genome-wide sequencing for newborn screening can detect more early-onset health conditions. Implementing this requires demonstrating clinical utility, cost-effectiveness, and resolving ethical issues for children's best interests.
Area of Science:
- Genomics
- Medical Genetics
- Public Health
Background:
- Genome-wide sequencing (whole genome or exome) offers potential for expanded population-based newborn screening.
- This technology could enable detection and prevention of numerous serious early-onset health conditions.
Purpose of the Study:
- To review current understanding and concerns regarding genomic technologies in newborn screening.
- To develop consensus-based recommendations for implementing genomic newborn screening.
Main Methods:
- The Paediatric Task Team of the Global Alliance for Genomics and Health's Regulatory and Ethics Working Group conducted a review.
- Consensus was reached on eight recommendations for clinicians, scientists, and policymakers.
Main Results:
- Clinical utility and cost-effectiveness must be proven before implementation.
- Distinguishing disease-causing from benign variants is essential.
- Ethical and policy issues, including incidental findings and data management, require resolution.
Conclusions:
- All decisions on genomic newborn screening must prioritize the best interests of children.
- Successful implementation hinges on addressing technical, ethical, and policy challenges.
Background:
The use of genome-wide (whole genome or exome) sequencing for population-based newborn screening presents an opportunity to detect and treat or prevent many more serious early-onset health conditions than is possible today.
Methods:
The Paediatric Task Team of the Global Alliance for Genomics and Health's Regulatory and Ethics Working Group reviewed current understanding and concerns regarding the use of genomic technologies for population-based newborn screening and developed, by consensus, eight recommendations for clinicians, clinical laboratory scientists, and policy makers.
Results:
Before genome-wide sequencing can be implemented in newborn screening programs, its clinical utility and cost-effectiveness must be demonstrated, and the ability to distinguish disease-causing and benign variants of all genes screened must be established. In addition, each jurisdiction needs to resolve ethical and policy issues regarding the disclosure of incidental or secondary findings to families and ownership, appropriate storage and sharing of genomic data.
Conclusion:
The best interests of children should be the basis for all decisions regarding the implementation of genomic newborn screening.
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