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Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor. / Barendsen, Rinse W.; Dijkstra, Inge M. E.; Visser, Wouter F. et al.

In: Frontiers in cell and developmental biology, Vol. 8, 499, 17.06.2020.

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Barendsen, Rinse W. ; Dijkstra, Inge M. E. ; Visser, Wouter F. et al. / Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor. In: Frontiers in cell and developmental biology. 2020 ; Vol. 8.

BibTeX

@article{f051974ffeb54785b8b3a534e3e04d9c,
title = "Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor",
abstract = "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.",
keywords = "X chromosome, adrenoleukodystrophy, dried bloodspots, gender, heel prick, neonatal, newborn screening, peroxisomes",
author = "Barendsen, {Rinse W.} and Dijkstra, {Inge M. E.} and Visser, {Wouter F.} and Mari{\"e}lle Alders and Jet Bliek and Anita Boelen and Bouva, {Marelle J.} and {van der Crabben}, {Saskia N.} and Ellen Elsinghorst and {van Gorp}, {Ankie G. M.} and Heijboer, {Annemieke C.} and Mandy Jansen and Jaspers, {Yorrick R. J.} and {van Lenthe}, Henk and Ingrid Metgod and Mooij, {Christiaan F.} and {van der Sluijs}, {Elise H. C.} and {van Trotsenburg}, {A. S. Paul} and Verschoof-Puite, {Rendelien K.} and Vaz, {Fr{\'e}d{\'e}ric M.} and Waterham, {Hans R.} and Wijburg, {Frits A.} and Marc Engelen and Eug{\`e}nie Dekkers and Stephan Kemp",
year = "2020",
month = jun,
day = "17",
doi = "10.3389/fcell.2020.00499",
language = "English",
volume = "8",
journal = "Frontiers in cell and developmental biology",
issn = "2296-634X",
publisher = "Frontiers Media S.A.",

}

RIS

TY - JOUR

T1 - Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

AU - Barendsen, Rinse W.

AU - Dijkstra, Inge M. E.

AU - Visser, Wouter F.

AU - Alders, Mariëlle

AU - Bliek, Jet

AU - Boelen, Anita

AU - Bouva, Marelle J.

AU - van der Crabben, Saskia N.

AU - Elsinghorst, Ellen

AU - van Gorp, Ankie G. M.

AU - Heijboer, Annemieke C.

AU - Jansen, Mandy

AU - Jaspers, Yorrick R. J.

AU - van Lenthe, Henk

AU - Metgod, Ingrid

AU - Mooij, Christiaan F.

AU - van der Sluijs, Elise H. C.

AU - van Trotsenburg, A. S. Paul

AU - Verschoof-Puite, Rendelien K.

AU - Vaz, Frédéric M.

AU - Waterham, Hans R.

AU - Wijburg, Frits A.

AU - Engelen, Marc

AU - Dekkers, Eugènie

AU - Kemp, Stephan

PY - 2020/6/17

Y1 - 2020/6/17

N2 - 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.

AB - 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.

KW - X chromosome

KW - adrenoleukodystrophy

KW - dried bloodspots

KW - gender

KW - heel prick

KW - neonatal

KW - newborn screening

KW - peroxisomes

UR - http://www.scopus.com/inward/record.url?scp=85087143370&partnerID=8YFLogxK

U2 - 10.3389/fcell.2020.00499

DO - 10.3389/fcell.2020.00499

M3 - Article

C2 - 32626714

VL - 8

JO - Frontiers in cell and developmental biology

JF - Frontiers in cell and developmental biology

SN - 2296-634X

M1 - 499

ER -

ID: 12274780