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Principles of Genomic Newborn Screening Programs: A Systematic Review
Lilian Downie1,2, Jane Halliday1,2, Sharon Lewis1,2
1Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
JAMA Network Open
|July 20, 2021
Summary
Genomic newborn screening (gNBS) offers benefits but requires careful design. Key considerations include equitable access, informed consent, and transparent gene selection, balancing individual rights with family well-being.
Area of Science:
- Genomics
- Public Health
- Bioethics
Background:
- Genomic newborn screening (gNBS) presents an opportunity to enhance child and family health.
- Screening programs must be evidence-based, acceptable, and beneficial.
Purpose of the Study:
- To review discoveries from early genomic newborn screening (gNBS) pilot projects.
- To summarize key considerations for designing effective gNBS programs.
Main Methods:
- A systematic literature review was conducted on April 14, 2021.
- 36 articles generating new evidence on gNBS were analyzed, excluding opinion pieces.
Main Results:
- High concordance exists on gNBS implementation needs, except for gene-disease inclusion variability.
- Essential findings include the need for equitable access, education, informed consent, transparent gene selection, and minimized uncertainty in data analysis.
- Balancing expanded screening with parental consent complexity and potential decline in traditional newborn screening (tNBS) uptake is crucial.
Conclusions:
- Implementing gNBS necessitates a nuanced approach, addressing knowledge gaps in diverse populations, health system capabilities, and economic implications.
- Rigorous outcome evaluation and adaptable program evolution are essential for maximizing benefits.
- Prioritizing a child's right to self-determination over potential family-wide benefits is a key ethical consideration.
