Page 26 - Read Online

Tsipouras et al. Rare Dis Orphan Drugs J 2023;2:17 https://dx.doi.org/10.20517/rdodj.2023.15 Page 5 of 6

Figure 1. An overview of how federated data analysis can be incorporated into an undiagnosed disease program targeting newborns to
help enable secure data access across research laboratories and clinics worldwide. (A) The steps involved in diagnosing a rare disease
in an affected newborn; (B) A summary of how federated data analysis is performed and the benefits that can be gained.

these all be considered and addressed as federated approaches continue to be developed.

CONCLUSION
Newborn genome screening is a promising approach to early disease detection with considerable
advantages compared to traditional approaches, but the integration into clinical care comes with complex
technical challenges, which must be meaningfully explored to ensure effective and equitable impact.
Standardized data federation could provide part of a crucial solution as a collaboration framework for the
various newborn genome screening initiatives underway worldwide. Such efforts to facilitate secure joint
data access and analysis to information among relevant stakeholders will accelerate the existing momentum
of collaboration between global newborn sequencing initiatives, ultimately improving outcomes for
patients.

DECLARATIONS
Authors’ contributions
Wrote the paper: Tsipouras P, Sheppard H, Gaimster H
Reviewed the paper: Chatzou Dunford M, Zaoutis T

Availability of data and materials
Not applicable.

Financial support and sponsorship
None.

Conflicts of interest
All authors declared that there are no conflicts of interest.

Ethical approval and consent to participate
Not applicable.