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Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

X-linked adrenoleukodystrophy (ALD) is a devastating metabolic disorder affecting the adrenal glands, brain and spinal cord. Males with ALD are at high risk for developing adrenal insufficiency or progressive cerebral white matter lesions (cerebral ALD) at an early age. If untreated, cerebral ALD is...

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Autores principales: Barendsen, Rinse W., Dijkstra, Inge M. E., Visser, Wouter F., Alders, Mariëlle, Bliek, Jet, Boelen, Anita, Bouva, Marelle J., van der Crabben, Saskia N., Elsinghorst, Ellen, van Gorp, Ankie G. M., Heijboer, Annemieke C., Jansen, Mandy, Jaspers, Yorrick R. J., van Lenthe, Henk, Metgod, Ingrid, Mooij, Christiaan F., van der Sluijs, Elise H. C., van Trotsenburg, A. S. Paul, Verschoof-Puite, Rendelien K., Vaz, Frédéric M., Waterham, Hans R., Wijburg, Frits A., Engelen, Marc, Dekkers, Eugènie, Kemp, Stephan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7311642/
https://www.ncbi.nlm.nih.gov/pubmed/32626714
http://dx.doi.org/10.3389/fcell.2020.00499
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author Barendsen, Rinse W.
Dijkstra, Inge M. E.
Visser, Wouter F.
Alders, Mariëlle
Bliek, Jet
Boelen, Anita
Bouva, Marelle J.
van der Crabben, Saskia N.
Elsinghorst, Ellen
van Gorp, Ankie G. M.
Heijboer, Annemieke C.
Jansen, Mandy
Jaspers, Yorrick R. J.
van Lenthe, Henk
Metgod, Ingrid
Mooij, Christiaan F.
van der Sluijs, Elise H. C.
van Trotsenburg, A. S. Paul
Verschoof-Puite, Rendelien K.
Vaz, Frédéric M.
Waterham, Hans R.
Wijburg, Frits A.
Engelen, Marc
Dekkers, Eugènie
Kemp, Stephan
author_facet Barendsen, Rinse W.
Dijkstra, Inge M. E.
Visser, Wouter F.
Alders, Mariëlle
Bliek, Jet
Boelen, Anita
Bouva, Marelle J.
van der Crabben, Saskia N.
Elsinghorst, Ellen
van Gorp, Ankie G. M.
Heijboer, Annemieke C.
Jansen, Mandy
Jaspers, Yorrick R. J.
van Lenthe, Henk
Metgod, Ingrid
Mooij, Christiaan F.
van der Sluijs, Elise H. C.
van Trotsenburg, A. S. Paul
Verschoof-Puite, Rendelien K.
Vaz, Frédéric M.
Waterham, Hans R.
Wijburg, Frits A.
Engelen, Marc
Dekkers, Eugènie
Kemp, Stephan
author_sort Barendsen, Rinse W.
collection PubMed
description X-linked adrenoleukodystrophy (ALD) is a devastating metabolic disorder affecting the adrenal glands, brain and spinal cord. Males with ALD are at high risk for developing adrenal insufficiency or progressive cerebral white matter lesions (cerebral ALD) at an early age. If untreated, cerebral ALD is often fatal. Women with ALD are not at risk for adrenal insufficiency or cerebral ALD. Newborn screening for ALD in males enables prospective monitoring and timely therapeutic intervention, thereby preventing irreparable damage and saving lives. The Dutch Ministry of Health adopted the advice of the Dutch Health Council to add a boys-only screen for ALD to the newborn screening panel. The recommendation made by the Dutch Health Council to only screen boys, without gathering any unsolicited findings, posed a challenge. We were invited to set up a prospective pilot study that became known as the SCAN study (SCreening for ALD in the Netherlands). The objectives of the SCAN study are: (1) designing a boys-only screening algorithm that identifies males with ALD and without unsolicited findings; (2) integrating this algorithm into the structure of the Dutch newborn screening program without harming the current newborn screening; (3) assessing the practical and ethical implications of screening only boys for ALD; and (4) setting up a comprehensive follow-up that is both patient- and parent-friendly. We successfully developed and validated a screening algorithm that can be integrated into the Dutch newborn screening program. The core of this algorithm is the “X-counter.” The X-counter determines the number of X chromosomes without assessing the presence of a Y chromosome. The X-counter is integrated as second tier in our 4-tier screening algorithm. Furthermore, we ensured that our screening algorithm does not result in unsolicited findings. Finally, we developed a patient- and parent-friendly, multidisciplinary, centralized follow-up protocol. Our boys-only ALD screening algorithm offers a solution for countries that encounter similar ethical considerations, for ALD as well as for other X-linked diseases. For ALD, this alternative boys-only screening algorithm may result in a more rapid inclusion of ALD in newborn screening programs worldwide.
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spelling pubmed-73116422020-07-02 Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor Barendsen, Rinse W. Dijkstra, Inge M. E. Visser, Wouter F. Alders, Mariëlle Bliek, Jet Boelen, Anita Bouva, Marelle J. van der Crabben, Saskia N. Elsinghorst, Ellen van Gorp, Ankie G. M. Heijboer, Annemieke C. Jansen, Mandy Jaspers, Yorrick R. J. van Lenthe, Henk Metgod, Ingrid Mooij, Christiaan F. van der Sluijs, Elise H. C. van Trotsenburg, A. S. Paul Verschoof-Puite, Rendelien K. Vaz, Frédéric M. Waterham, Hans R. Wijburg, Frits A. Engelen, Marc Dekkers, Eugènie Kemp, Stephan Front Cell Dev Biol Cell and Developmental Biology X-linked adrenoleukodystrophy (ALD) is a devastating metabolic disorder affecting the adrenal glands, brain and spinal cord. Males with ALD are at high risk for developing adrenal insufficiency or progressive cerebral white matter lesions (cerebral ALD) at an early age. If untreated, cerebral ALD is often fatal. Women with ALD are not at risk for adrenal insufficiency or cerebral ALD. Newborn screening for ALD in males enables prospective monitoring and timely therapeutic intervention, thereby preventing irreparable damage and saving lives. The Dutch Ministry of Health adopted the advice of the Dutch Health Council to add a boys-only screen for ALD to the newborn screening panel. The recommendation made by the Dutch Health Council to only screen boys, without gathering any unsolicited findings, posed a challenge. We were invited to set up a prospective pilot study that became known as the SCAN study (SCreening for ALD in the Netherlands). The objectives of the SCAN study are: (1) designing a boys-only screening algorithm that identifies males with ALD and without unsolicited findings; (2) integrating this algorithm into the structure of the Dutch newborn screening program without harming the current newborn screening; (3) assessing the practical and ethical implications of screening only boys for ALD; and (4) setting up a comprehensive follow-up that is both patient- and parent-friendly. We successfully developed and validated a screening algorithm that can be integrated into the Dutch newborn screening program. The core of this algorithm is the “X-counter.” The X-counter determines the number of X chromosomes without assessing the presence of a Y chromosome. The X-counter is integrated as second tier in our 4-tier screening algorithm. Furthermore, we ensured that our screening algorithm does not result in unsolicited findings. Finally, we developed a patient- and parent-friendly, multidisciplinary, centralized follow-up protocol. Our boys-only ALD screening algorithm offers a solution for countries that encounter similar ethical considerations, for ALD as well as for other X-linked diseases. For ALD, this alternative boys-only screening algorithm may result in a more rapid inclusion of ALD in newborn screening programs worldwide. Frontiers Media S.A. 2020-06-17 /pmc/articles/PMC7311642/ /pubmed/32626714 http://dx.doi.org/10.3389/fcell.2020.00499 Text en Copyright © 2020 Barendsen, Dijkstra, Visser, Alders, Bliek, Boelen, Bouva, van der Crabben, Elsinghorst, van Gorp, Heijboer, Jansen, Jaspers, van Lenthe, Metgod, Mooij, van der Sluijs, van Trotsenburg, Verschoof-Puite, Vaz, Waterham, Wijburg, Engelen, Dekkers and Kemp. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Cell and Developmental Biology
Barendsen, Rinse W.
Dijkstra, Inge M. E.
Visser, Wouter F.
Alders, Mariëlle
Bliek, Jet
Boelen, Anita
Bouva, Marelle J.
van der Crabben, Saskia N.
Elsinghorst, Ellen
van Gorp, Ankie G. M.
Heijboer, Annemieke C.
Jansen, Mandy
Jaspers, Yorrick R. J.
van Lenthe, Henk
Metgod, Ingrid
Mooij, Christiaan F.
van der Sluijs, Elise H. C.
van Trotsenburg, A. S. Paul
Verschoof-Puite, Rendelien K.
Vaz, Frédéric M.
Waterham, Hans R.
Wijburg, Frits A.
Engelen, Marc
Dekkers, Eugènie
Kemp, Stephan
Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor
title Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor
title_full Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor
title_fullStr Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor
title_full_unstemmed Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor
title_short Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor
title_sort adrenoleukodystrophy newborn screening in the netherlands (scan study): the x-factor
topic Cell and Developmental Biology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7311642/
https://www.ncbi.nlm.nih.gov/pubmed/32626714
http://dx.doi.org/10.3389/fcell.2020.00499
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