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Tsipouras et al. Rare Dis Orphan Drugs J 2023;2:17 Rare Disease and
DOI: 10.20517/rdodj.2023.15
Orphan Drugs Journal

Opinion Open Access

Could federated data analysis be the catalyst
accelerating the introduction of newborn genome

screening for the detection of genetic disease?

2
2
2
Petros Tsipouras 1 , Maria Chatzou Dunford , Hadley Sheppard , Hannah Gaimster , Theoklis Zaoutis 3,4
1
FirstSteps Greece, Newborn genome screening Initiative, Athens 106 80, Greece.
2
Lifebit Biotech Ltd., London EC2A 2AP, United Kingdom.
3
National Public Health Organization (EODY), Athens 151 23, Greece.
4
The 2nd Department of Pediatrics, National and Kapodistrian University of Athens, ‘P. & A. Kyriakou’ Children's Hospital,
Athens 106 80, Greece.
Correspondence to: Dr. Petros Tsipouras, FirstSteps Greece, Newborn genome screening Initiative, Skoufa 64, Athens 106 80,
Greece. E-mail: petros.tsipouras@beginnings.gr
How to cite this article: Tsipouras P, Dunford MC, Sheppard H, Gaimster H, Zaoutis T. Could federated data analysis be the
catalyst accelerating the introduction of newborn genome screening for the detection of genetic disease? Rare Dis Orphan Drugs J
2023;2:17. https://dx.doi.org/10.20517/rdodj.2023.15

Received: 14 Jun 2023 First Decision: 7 Sep 2023 Revised: 14 Sep 2023 Accepted: 22 Sep 2023 Published: 27 Sep 2023

Academic Editor: Virginie Bros-Facer Copy Editor: Dan Zhang Production Editor: Dan Zhang

Abstract
Data federation intermediated through trusted research environments can help accelerate the adoption and
utilization of newborn genome screening worldwide. Data federation will protect individual datasets from
unauthorized security breaches, allow analysis in situ, and bypass the need for cumbersome data sharing
agreements between parties. Finally, data federation could accelerate the adoption of new therapies for rare
genetic diseases with the use of synthetic clinical trials.

Keywords: Newborn genome screening, data federation, trusted research environment

INTRODUCTION
Worldwide, millions of children are born with a rare genetic disease . Newborn screening (NBS) has been
[1,2]
effective in identifying babies who are at risk of developing a genetic disease and initiating a therapeutic
intervention. The first genetic disease for which NBS was introduced is phenylketonuria (PKU), where early

© The Author(s) 2023. Open Access This article is licensed under a Creative Commons Attribution 4.0
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