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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.
Insights
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.
Importance:
Genomic newborn screening (gNBS) may optimize the health and well-being of children and families. Screening programs are required to be evidence based, acceptable, and beneficial.
Objectives:
To identify what has been discovered following the reporting of the first gNBS pilot projects and to provide a summary of key points for the design of gNBS.
Evidence Review:
A systematic literature review was performed on April 14, 2021, identifying 36 articles that addressed the following questions: (1) what is the interest in and what would be the uptake of gNBS? (2) what diseases and genes should be included? (3) what is the validity and utility of gNBS? and (4) what are the ethical, legal, and social implications? Articles were only included if they generated new evidence; all opinion pieces were excluded.
Findings:
In the 36 articles included, there was high concordance, except for gene disease inclusion, which was highly variable. Key findings were the need for equitable access, appropriate educational materials, and informed and flexible consent. The process for selecting genes for testing should be transparent and reflect that parents value the certainty of prediction over actionability. Data should be analyzed in a way that minimizes uncertainty and incidental findings. The expansion of traditional newborn screening (tNBS) to identify more life-threatening and treatable diseases needs to be balanced against the complexity of consenting parents of newborns for genomic testing as well as the risk that overall uptake of tNBS may decline. The literature reflected that the right of a child to self-determination should be valued more than the possibility of the whole family benefiting from a newborn genomic test.
Conclusions And Relevance:
The findings of this systematic review suggest that implementing gNBS will require a nuanced approach. There are gaps in our knowledge, such as the views of diverse populations, the capabilities of health systems, and health economic implications. It will be essential to rigorously evaluate outcomes and ensure programs can evolve to maximize benefit.
