Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing

BibTeX

@article{allodium:10.1016/j.gim.2025.101618,
  title = {Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing},
  author = {Lilian Downie and Julie Yeo and Thomas Minten and Rose Heald and Derek Ansel and Mei Baker and Jorune Balciuniene and Jonathan S. Berg and François Boemer and Wendy K. Chung and Heidi L. Cope and David J. Eckstein and Nicolas Encina and Laurence Faivre and Alessandra Ferlini and Judit García-Villoria and Michael H. Gelb and José Manuel González De Aledo-Castillo and Katie Golden-Grant and Richard B. Parad and Nidhi Shah and Zornitza Stark and Kristen L. Sund and Petros Tsipouras and Meekai To and David Bick and Robert C. Green and Sophia Adelson and Emanuele Agolini and Aljazi Al-Maraghi and Karla Alex and Fowzan Alkuraya and Ammira Alshabeeb Akil and Munira Alshehri and Derek Ansel and Niki Armstrong and Matthew Aujla and Don Bailey and Mei Baker and Jorune Balciuniene and Andrew Barry and Bruce Bennetts and Melissa Berenger and Jonathan Berg and Donna Bernstein and Arindam Bhatatcharjee and Sucheta Bhatt and David Bick and Tracey Bishop and Asaf Bitton and François Boemer and Natasha Bonhomme and George Bowley and Brenna Boyd and Heiko Brennenstuhl and Steven Brenner and Mairead Bresnahan and Thomas Brewster and P.J. Brooks and Katya Broomberg and Amy Brower and Mattia Gentile and Jessica Giordano and Ulrich Glumer Jensen and David Godler and Nina Gold and Aaron Goldenberg and Katie GoldenGrant and Cassie Goldman and José Manuel González de Aledo-Castillo and Daniel Gottlieb and Robert Green and Christopher Greene and Brooke Greenstein and Scott Grosse and Annette Grueters and Gulcin Gumus and Kelly Hagman and Kevin Hall and Aymeric Harmant and Sally Hartmanis and Robin Hayeems and Rose Heald and Madhuri Hegde and Rebecca Heiner-Fokkema and Lidewij Henneman and Becca Hernan and Charlotte Hobbs and Ingrid Holm and Layla Horwitz and Zhanzhi Hu and Maria Iascone and Ken Irvine and Guanjun Jin and Kelsey Kalbfleisch and Mette Nyegaard and Justin O'Sullivan and Jelili Ojodu and Paola Orsini and Andrea Oza and Katrina Paleologos and Richard Parad and Holly Peay and Matthew Pelo and Carolyn Philstrom and Dominique Pichard and Amanda Pichini and Amanda Pichini and Michelle Pirreca and Malgorzata Ponikowska and Amy Ponte and Andreas Posch and Cynthia Powell and Liana Protopsaltis and Yeyson Quevedo and Marianna Raia and Rebecca Reimer and Andy Rohrwasser and Paul Rollier and Lene Rottensten and Irakli Rtskhiladze and Nabihah Sachedina and George Sahyoun and Aditi Satija and Christian Schaaf and Jennifer Schleit and Richard Scott and Lauren Scully and Stacey Seeloff and Gemma Brown and James Buchanan and Caleb Bupp and Candance Cameron and Lauren Capacchione and Diana Carli and Onassis Castillo Ceballo and Kee Chan and Jillian Chance and Georgia Charalambidou and Winnie Chen and Yun-Ru Chen and Wendy Chung and Brian Chung and Megan Clarke and Susan Clasper and F. Sessions Cole and Heidi Cope and Stephanie Coury and Tony Cox and Tamara Dangouloff and Earnest James Paul Daniel and Katrin Eivindardottir Danielsen and Emeline Davoine and Tom Defay and Geethanjali Devadoss Gandhi and Joseph Dewulf and Lisa Diller and Pakhi Dixit and Martijn Dolle and Lilian Downie and Erin Drake and Suzanne Drury and Annelotte Duintjer and Bugrahan Duz and David Eckstein and Matthew Ellinwood and Ines Kander and Lucy Kaplun and Dalia Kasperaviciute and Karin Kassahn and Leni Kauko and Riina Kaukonen and Nicole Kelly and Dhayo Khangsar and Jovanka King and Clare Kingsley and Stephen Kingsmore and Brian Kirms and Rachel Klein and Stefan Koelker and Youssef Kousa and Elizaveta Krupoderova and Paul Kruszka and Katherine Langley and Ciara Leckie and Emmanuelle Lecommandeur and David Ledbetter and Pamela Lee and Beomhee Lee and Camille Leve and Celine Lewis and Anna Lewis and Ruby Liu and Mauro Longon and Alberte Lundquist and Sebastian Lunke and Kate MacDuffie and Ankit Malhotra and Lionel Marcelis and Maria Martinez-Fresno and Gert Matthijs and Roberts Melbardis and Jessica Merritt and Laurent Servais and Nidhi Shah and Maija Siitonen and Sikha Singh and Carol Siu and Hadley Smith and Lisa Sniderman King and Neal Sondheimer and Lourdes St George and Zornitza Stark and Robert Steiner and Ulrik Stoltze and Asbjørg Stray-Pedersen and Kristen Sund and Paris Tafas and Polakit Teekakirikul and Dimitrios Thanos and Audrey Thurm and Meekai To and Petros Tsipouras and Alice Tuff-Lacey and Heather Turner and Philip Twiss and Fiona Ulph and Daniel Uribe and Tiina Urv and Cora Vacher and Kris Van Den Bogaert and Mirjam van der Burg and Eva Van Steijvoort and Yiota Veloudi and Elizabeth Vengoechea and Els Voorhoeve and Martin Vu and Melissa Wasserstein and Michael Watson and Bryn Webb and Katarzyna Ellsworth and Katarzyna Ellsworth and Radja Messai Badji and Anna Wedell and Sarah Elsea and Lou Metherell and Thomas Westover and Nicolas Encina and Nanna Balle Mikkelsen and Alexandra Wiedemann and Harriet Etheredge and Laura Milko and Meredith Wright and Laurence Faivre and Nicole Miller and Cindy Wu and Alessandra Ferlini and Thomas Minten and Julie Yeo and Monica Ferrie and Sian Morgan and Nancy Yin-Hsiu Chien and Terri Finkel and Katarzyna Mosiewicz and Shamila Yusuff and Petra Furu and Ulrike Mütze and Tomasz Zemojtel and Jamie Galarza-Cornejo and Sukhvinder Nicklen and Bethany Zettler and Ya Gao and Minna Niemela and Zhengyan Zhao and Judit Garcia-Villoria and Dau-Ming Niu and Joanna Ziff and Liz Gardner and Sarah Norris and Rebekah Zimmerman and Amy Gaviglio and Antonio Novelli and Michela Zuccolo and Michael Gelb and Arwa Nusair and Nina B. Gold},
  year = {2026},
  journal = {Genetics in Medicine},
  doi = {10.1016/j.gim.2025.101618},
  url = {https://doi.org/10.1016/j.gim.2025.101618}
}

RIS

TY  - JOUR
TI  - Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing
AU  - Lilian Downie
AU  - Julie Yeo
AU  - Thomas Minten
AU  - Rose Heald
AU  - Derek Ansel
AU  - Mei Baker
AU  - Jorune Balciuniene
AU  - Jonathan S. Berg
AU  - François Boemer
AU  - Wendy K. Chung
AU  - Heidi L. Cope
AU  - David J. Eckstein
AU  - Nicolas Encina
AU  - Laurence Faivre
AU  - Alessandra Ferlini
AU  - Judit García-Villoria
AU  - Michael H. Gelb
AU  - José Manuel González De Aledo-Castillo
AU  - Katie Golden-Grant
AU  - Richard B. Parad
AU  - Nidhi Shah
AU  - Zornitza Stark
AU  - Kristen L. Sund
AU  - Petros Tsipouras
AU  - Meekai To
AU  - David Bick
AU  - Robert C. Green
AU  - Sophia Adelson
AU  - Emanuele Agolini
AU  - Aljazi Al-Maraghi
AU  - Karla Alex
AU  - Fowzan Alkuraya
AU  - Ammira Alshabeeb Akil
AU  - Munira Alshehri
AU  - Derek Ansel
AU  - Niki Armstrong
AU  - Matthew Aujla
AU  - Don Bailey
AU  - Mei Baker
AU  - Jorune Balciuniene
AU  - Andrew Barry
AU  - Bruce Bennetts
AU  - Melissa Berenger
AU  - Jonathan Berg
AU  - Donna Bernstein
AU  - Arindam Bhatatcharjee
AU  - Sucheta Bhatt
AU  - David Bick
AU  - Tracey Bishop
AU  - Asaf Bitton
AU  - François Boemer
AU  - Natasha Bonhomme
AU  - George Bowley
AU  - Brenna Boyd
AU  - Heiko Brennenstuhl
AU  - Steven Brenner
AU  - Mairead Bresnahan
AU  - Thomas Brewster
AU  - P.J. Brooks
AU  - Katya Broomberg
AU  - Amy Brower
AU  - Mattia Gentile
AU  - Jessica Giordano
AU  - Ulrich Glumer Jensen
AU  - David Godler
AU  - Nina Gold
AU  - Aaron Goldenberg
AU  - Katie GoldenGrant
AU  - Cassie Goldman
AU  - José Manuel González de Aledo-Castillo
AU  - Daniel Gottlieb
AU  - Robert Green
AU  - Christopher Greene
AU  - Brooke Greenstein
AU  - Scott Grosse
AU  - Annette Grueters
AU  - Gulcin Gumus
AU  - Kelly Hagman
AU  - Kevin Hall
AU  - Aymeric Harmant
AU  - Sally Hartmanis
AU  - Robin Hayeems
AU  - Rose Heald
AU  - Madhuri Hegde
AU  - Rebecca Heiner-Fokkema
AU  - Lidewij Henneman
AU  - Becca Hernan
AU  - Charlotte Hobbs
AU  - Ingrid Holm
AU  - Layla Horwitz
AU  - Zhanzhi Hu
AU  - Maria Iascone
AU  - Ken Irvine
AU  - Guanjun Jin
AU  - Kelsey Kalbfleisch
AU  - Mette Nyegaard
AU  - Justin O'Sullivan
AU  - Jelili Ojodu
AU  - Paola Orsini
AU  - Andrea Oza
AU  - Katrina Paleologos
AU  - Richard Parad
AU  - Holly Peay
AU  - Matthew Pelo
AU  - Carolyn Philstrom
AU  - Dominique Pichard
AU  - Amanda Pichini
AU  - Amanda Pichini
AU  - Michelle Pirreca
AU  - Malgorzata Ponikowska
AU  - Amy Ponte
AU  - Andreas Posch
AU  - Cynthia Powell
AU  - Liana Protopsaltis
AU  - Yeyson Quevedo
AU  - Marianna Raia
AU  - Rebecca Reimer
AU  - Andy Rohrwasser
AU  - Paul Rollier
AU  - Lene Rottensten
AU  - Irakli Rtskhiladze
AU  - Nabihah Sachedina
AU  - George Sahyoun
AU  - Aditi Satija
AU  - Christian Schaaf
AU  - Jennifer Schleit
AU  - Richard Scott
AU  - Lauren Scully
AU  - Stacey Seeloff
AU  - Gemma Brown
AU  - James Buchanan
AU  - Caleb Bupp
AU  - Candance Cameron
AU  - Lauren Capacchione
AU  - Diana Carli
AU  - Onassis Castillo Ceballo
AU  - Kee Chan
AU  - Jillian Chance
AU  - Georgia Charalambidou
AU  - Winnie Chen
AU  - Yun-Ru Chen
AU  - Wendy Chung
AU  - Brian Chung
AU  - Megan Clarke
AU  - Susan Clasper
AU  - F. Sessions Cole
AU  - Heidi Cope
AU  - Stephanie Coury
AU  - Tony Cox
AU  - Tamara Dangouloff
AU  - Earnest James Paul Daniel
AU  - Katrin Eivindardottir Danielsen
AU  - Emeline Davoine
AU  - Tom Defay
AU  - Geethanjali Devadoss Gandhi
AU  - Joseph Dewulf
AU  - Lisa Diller
AU  - Pakhi Dixit
AU  - Martijn Dolle
AU  - Lilian Downie
AU  - Erin Drake
AU  - Suzanne Drury
AU  - Annelotte Duintjer
AU  - Bugrahan Duz
AU  - David Eckstein
AU  - Matthew Ellinwood
AU  - Ines Kander
AU  - Lucy Kaplun
AU  - Dalia Kasperaviciute
AU  - Karin Kassahn
AU  - Leni Kauko
AU  - Riina Kaukonen
AU  - Nicole Kelly
AU  - Dhayo Khangsar
AU  - Jovanka King
AU  - Clare Kingsley
AU  - Stephen Kingsmore
AU  - Brian Kirms
AU  - Rachel Klein
AU  - Stefan Koelker
AU  - Youssef Kousa
AU  - Elizaveta Krupoderova
AU  - Paul Kruszka
AU  - Katherine Langley
AU  - Ciara Leckie
AU  - Emmanuelle Lecommandeur
AU  - David Ledbetter
AU  - Pamela Lee
AU  - Beomhee Lee
AU  - Camille Leve
AU  - Celine Lewis
AU  - Anna Lewis
AU  - Ruby Liu
AU  - Mauro Longon
AU  - Alberte Lundquist
AU  - Sebastian Lunke
AU  - Kate MacDuffie
AU  - Ankit Malhotra
AU  - Lionel Marcelis
AU  - Maria Martinez-Fresno
AU  - Gert Matthijs
AU  - Roberts Melbardis
AU  - Jessica Merritt
AU  - Laurent Servais
AU  - Nidhi Shah
AU  - Maija Siitonen
AU  - Sikha Singh
AU  - Carol Siu
AU  - Hadley Smith
AU  - Lisa Sniderman King
AU  - Neal Sondheimer
AU  - Lourdes St George
AU  - Zornitza Stark
AU  - Robert Steiner
AU  - Ulrik Stoltze
AU  - Asbjørg Stray-Pedersen
AU  - Kristen Sund
AU  - Paris Tafas
AU  - Polakit Teekakirikul
AU  - Dimitrios Thanos
AU  - Audrey Thurm
AU  - Meekai To
AU  - Petros Tsipouras
AU  - Alice Tuff-Lacey
AU  - Heather Turner
AU  - Philip Twiss
AU  - Fiona Ulph
AU  - Daniel Uribe
AU  - Tiina Urv
AU  - Cora Vacher
AU  - Kris Van Den Bogaert
AU  - Mirjam van der Burg
AU  - Eva Van Steijvoort
AU  - Yiota Veloudi
AU  - Elizabeth Vengoechea
AU  - Els Voorhoeve
AU  - Martin Vu
AU  - Melissa Wasserstein
AU  - Michael Watson
AU  - Bryn Webb
AU  - Katarzyna Ellsworth
AU  - Katarzyna Ellsworth
AU  - Radja Messai Badji
AU  - Anna Wedell
AU  - Sarah Elsea
AU  - Lou Metherell
AU  - Thomas Westover
AU  - Nicolas Encina
AU  - Nanna Balle Mikkelsen
AU  - Alexandra Wiedemann
AU  - Harriet Etheredge
AU  - Laura Milko
AU  - Meredith Wright
AU  - Laurence Faivre
AU  - Nicole Miller
AU  - Cindy Wu
AU  - Alessandra Ferlini
AU  - Thomas Minten
AU  - Julie Yeo
AU  - Monica Ferrie
AU  - Sian Morgan
AU  - Nancy Yin-Hsiu Chien
AU  - Terri Finkel
AU  - Katarzyna Mosiewicz
AU  - Shamila Yusuff
AU  - Petra Furu
AU  - Ulrike Mütze
AU  - Tomasz Zemojtel
AU  - Jamie Galarza-Cornejo
AU  - Sukhvinder Nicklen
AU  - Bethany Zettler
AU  - Ya Gao
AU  - Minna Niemela
AU  - Zhengyan Zhao
AU  - Judit Garcia-Villoria
AU  - Dau-Ming Niu
AU  - Joanna Ziff
AU  - Liz Gardner
AU  - Sarah Norris
AU  - Rebekah Zimmerman
AU  - Amy Gaviglio
AU  - Antonio Novelli
AU  - Michela Zuccolo
AU  - Michael Gelb
AU  - Arwa Nusair
AU  - Nina B. Gold
PY  - 2026
JO  - Genetics in Medicine
DO  - 10.1016/j.gim.2025.101618
UR  - https://doi.org/10.1016/j.gim.2025.101618
ER  - 

APA

Downie, L., Yeo, J., Minten, T., Heald, R., Ansel, D., Baker, M., Balciuniene, J., Berg, J. S., Boemer, F., Chung, W. K., Cope, H. L., Eckstein, D. J., Encina, N., Faivre, L., Ferlini, A., García-Villoria, J., Gelb, M. H., Aledo-Castillo, J. M. G. D., Golden-Grant, K., Parad, R. B., Shah, N., Stark, Z., Sund, K. L., Tsipouras, P., To, M., Bick, D., Green, R. C., Adelson, S., Agolini, E., Al-Maraghi, A., Alex, K., Alkuraya, F., Akil, A. A., Alshehri, M., Ansel, D., Armstrong, N., Aujla, M., Bailey, D., Baker, M., Balciuniene, J., Barry, A., Bennetts, B., Berenger, M., Berg, J., Bernstein, D., Bhatatcharjee, A., Bhatt, S., Bick, D., Bishop, T., Bitton, A., Boemer, F., Bonhomme, N., Bowley, G., Boyd, B., Brennenstuhl, H., Brenner, S., Bresnahan, M., Brewster, T., Brooks, P., Broomberg, K., Brower, A., Gentile, M., Giordano, J., Jensen, U. G., Godler, D., Gold, N., Goldenberg, A., GoldenGrant, K., Goldman, C., Aledo-Castillo, J. M. G. D., Gottlieb, D., Green, R., Greene, C., Greenstein, B., Grosse, S., Grueters, A., Gumus, G., Hagman, K., Hall, K., Harmant, A., Hartmanis, S., Hayeems, R., Heald, R., Hegde, M., Heiner-Fokkema, R., Henneman, L., Hernan, B., Hobbs, C., Holm, I., Horwitz, L., Hu, Z., Iascone, M., Irvine, K., Jin, G., Kalbfleisch, K., Nyegaard, M., O'Sullivan, J., Ojodu, J., Orsini, P., Oza, A., Paleologos, K., Parad, R., Peay, H., Pelo, M., Philstrom, C., Pichard, D., Pichini, A., Pichini, A., Pirreca, M., Ponikowska, M., Ponte, A., Posch, A., Powell, C., Protopsaltis, L., Quevedo, Y., Raia, M., Reimer, R., Rohrwasser, A., Rollier, P., Rottensten, L., Rtskhiladze, I., Sachedina, N., Sahyoun, G., Satija, A., Schaaf, C., Schleit, J., Scott, R., Scully, L., Seeloff, S., Brown, G., Buchanan, J., Bupp, C., Cameron, C., Capacchione, L., Carli, D., Ceballo, O. C., Chan, K., Chance, J., Charalambidou, G., Chen, W., Chen, Y., Chung, W., Chung, B., Clarke, M., Clasper, S., Cole, F. S., Cope, H., Coury, S., Cox, T., Dangouloff, T., Daniel, E. J. P., Danielsen, K. E., Davoine, E., Defay, T., Gandhi, G. D., Dewulf, J., Diller, L., Dixit, P., Dolle, M., Downie, L., Drake, E., Drury, S., Duintjer, A., Duz, B., Eckstein, D., Ellinwood, M., Kander, I., Kaplun, L., Kasperaviciute, D., Kassahn, K., Kauko, L., Kaukonen, R., Kelly, N., Khangsar, D., King, J., Kingsley, C., Kingsmore, S., Kirms, B., Klein, R., Koelker, S., Kousa, Y., Krupoderova, E., Kruszka, P., Langley, K., Leckie, C., Lecommandeur, E., Ledbetter, D., Lee, P., Lee, B., Leve, C., Lewis, C., Lewis, A., Liu, R., Longon, M., Lundquist, A., Lunke, S., MacDuffie, K., Malhotra, A., Marcelis, L., Martinez-Fresno, M., Matthijs, G., Melbardis, R., Merritt, J., Servais, L., Shah, N., Siitonen, M., Singh, S., Siu, C., Smith, H., King, L. S., Sondheimer, N., George, L. S., Stark, Z., Steiner, R., Stoltze, U., Stray-Pedersen, A., Sund, K., Tafas, P., Teekakirikul, P., Thanos, D., Thurm, A., To, M., Tsipouras, P., Tuff-Lacey, A., Turner, H., Twiss, P., Ulph, F., Uribe, D., Urv, T., Vacher, C., Bogaert, K. V. D., Burg, M. V. D., Steijvoort, E. V., Veloudi, Y., Vengoechea, E., Voorhoeve, E., Vu, M., Wasserstein, M., Watson, M., Webb, B., Ellsworth, K., Ellsworth, K., Badji, R. M., Wedell, A., Elsea, S., Metherell, L., Westover, T., Encina, N., Mikkelsen, N. B., Wiedemann, A., Etheredge, H., Milko, L., Wright, M., Faivre, L., Miller, N., Wu, C., Ferlini, A., Minten, T., Yeo, J., Ferrie, M., Morgan, S., Chien, N. Y., Finkel, T., Mosiewicz, K., Yusuff, S., Furu, P., Mütze, U., Zemojtel, T., Galarza-Cornejo, J., Nicklen, S., Zettler, B., Gao, Y., Niemela, M., Zhao, Z., Garcia-Villoria, J., Niu, D., Ziff, J., Gardner, L., Norris, S., Zimmerman, R., Gaviglio, A., Novelli, A., Zuccolo, M., Gelb, M., Nusair, A., & Gold, N. B. (2026). Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing. Genetics in Medicine. https://doi.org/10.1016/j.gim.2025.101618