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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
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                                                                      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, UK.
               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, Chatzou Dunford M, 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
                           International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing,
                           adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as
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