. 2026 Jan;28(1):101618.

doi: 10.1016/j.gim.2025.101618. Epub 2025 Oct 24.

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

Lilian Downie¹, Julie Yeo², Thomas Minten³, Rose Heald⁴, Derek Ansel⁵, Mei Baker⁶, Jorune Balciuniene⁷, Jonathan S Berg⁸, François Boemer⁹, Wendy K Chung¹⁰, Heidi L Cope¹¹, David J Eckstein¹², Nicolas Encina¹³, Laurence Faivre¹⁴, Alessandra Ferlini¹⁵, Judit García-Villoria¹⁶, Michael H Gelb¹⁷, José Manuel González De Aledo-Castillo¹⁸, Katie Golden-Grant¹⁹, Richard B Parad²⁰, Nidhi Shah²¹, Zornitza Stark¹, Kristen L Sund²², Petros Tsipouras²³, Meekai To²⁴, David Bick²⁴, Robert C Green²⁵; International Consortium on Newborn Sequencing; Nina B Gold²⁶

Collaborators, Affiliations

Collaborators

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

Affiliations

¹ Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Department of Pediatrics, University of Melbourne, Melbourne, Australia.
² Division of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, MA.
³ KU Leuven, Leuven, Belgium.
⁴ Division of Genetics, Department of Medicine, Mass General Brigham, Boston, MA; Ariadne Labs, Boston, MA.
⁵ Worldwide Clinical Trials, Research Triangle Park, NC.
⁶ Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI.
⁷ Revvity Omics, Waltham, MA.
⁸ The University of North Carolina at Chapel Hill, Chapel Hill, NC.
⁹ CHU Liège, University of Liège, Liège, Belgium.
¹⁰ Department of Pediatrics, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA.
¹¹ RTI International GenOmics and Translational Research Center, Research Triangle Park, NC.
¹² Office of Clinical Research Education and Collaboration Outreach, Office of the Director, NIH, Bethesda, MD.
¹³ Ariadne Labs, Boston, MA; Harvard T.H. Chan School of Public Health, Boston, MA.
¹⁴ Genetics Center, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UMR1231 INSERM, GAD team, Bourgogne University, Dijon, France.
¹⁵ Medical Genetics Unit, Department of Medical Genetics, University of Ferrara, Ferrara, Italy.
¹⁶ Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, Barcelona, Spain; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
¹⁷ Departments of Chemistry and Biochemistry, University of Washington, Seattle, WA.
¹⁸ Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, Barcelona, Spain.
¹⁹ Rady Children's Institute for Genomic Medicine, San Diego, CA.
²⁰ Harvard Medical School, Boston, MA; Department of Pediatrics, Brigham and Women's Hospital, Boston, MA.
²¹ Dartmouth Health Children's, Lebanon, NH; Geisel School of Medicine, Hanover, NH.
²² Nurture Genomics, Cambridge, MA.
²³ FirstSteps, National gNBS Initiative, Greece.
²⁴ Genomics England Limited, London, England, United Kingdom.
²⁵ Ariadne Labs, Boston, MA; Harvard Medical School, Boston, MA; Mass General Brigham, Boston, MA; Broad Institute, Boston, MA.
²⁶ Division of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA. Electronic address: ngold@mgh.harvard.edu.

PMID: 41765866
PMCID: PMC12950953 (available on 2026-10-24)
DOI: 10.1016/j.gim.2025.101618

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

Lilian Downie et al. Genet Med. 2026 Jan.

. 2026 Jan;28(1):101618.

doi: 10.1016/j.gim.2025.101618. Epub 2025 Oct 24.

Authors

Collaborators

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

Affiliations

¹ Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Department of Pediatrics, University of Melbourne, Melbourne, Australia.
² Division of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, MA.
³ KU Leuven, Leuven, Belgium.
⁴ Division of Genetics, Department of Medicine, Mass General Brigham, Boston, MA; Ariadne Labs, Boston, MA.
⁵ Worldwide Clinical Trials, Research Triangle Park, NC.
⁶ Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI.
⁷ Revvity Omics, Waltham, MA.
⁸ The University of North Carolina at Chapel Hill, Chapel Hill, NC.
⁹ CHU Liège, University of Liège, Liège, Belgium.
¹⁰ Department of Pediatrics, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA.
¹¹ RTI International GenOmics and Translational Research Center, Research Triangle Park, NC.
¹² Office of Clinical Research Education and Collaboration Outreach, Office of the Director, NIH, Bethesda, MD.
¹³ Ariadne Labs, Boston, MA; Harvard T.H. Chan School of Public Health, Boston, MA.
¹⁴ Genetics Center, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UMR1231 INSERM, GAD team, Bourgogne University, Dijon, France.
¹⁵ Medical Genetics Unit, Department of Medical Genetics, University of Ferrara, Ferrara, Italy.
¹⁶ Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, Barcelona, Spain; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
¹⁷ Departments of Chemistry and Biochemistry, University of Washington, Seattle, WA.
¹⁸ Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, Barcelona, Spain.
¹⁹ Rady Children's Institute for Genomic Medicine, San Diego, CA.
²⁰ Harvard Medical School, Boston, MA; Department of Pediatrics, Brigham and Women's Hospital, Boston, MA.
²¹ Dartmouth Health Children's, Lebanon, NH; Geisel School of Medicine, Hanover, NH.
²² Nurture Genomics, Cambridge, MA.
²³ FirstSteps, National gNBS Initiative, Greece.
²⁴ Genomics England Limited, London, England, United Kingdom.
²⁵ Ariadne Labs, Boston, MA; Harvard Medical School, Boston, MA; Mass General Brigham, Boston, MA; Broad Institute, Boston, MA.
²⁶ Division of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA. Electronic address: ngold@mgh.harvard.edu.

PMID: 41765866
PMCID: PMC12950953 (available on 2026-10-24)
DOI: 10.1016/j.gim.2025.101618

Abstract

Purpose: For decades, the selection of disorders included in newborn screening (NBS) programs has been guided by principles published by Wilson and Jungner in 1968. As research explores the expansion of conditions included in NBS through genomic sequencing, there is a critical need for updated recommendations to address the opportunities and complexities of genomic data.

Methods: The International Consortium on Newborn Sequencing includes leaders from over 16 research projects investigating genomic NBS across the United Kingdom, Europe, United States, and Oceania. Consortium members were invited to participate in a modified Delphi study, aggregating opinion on the selection of conditions for genomic NBS through 3 rounds of online questionnaires, with feedback provided to participants between rounds.

Results: In round 1, 94 participants completed the questionnaire, and 10 of 43 statements reached consensus. In round 2, 81 participants completed the questionnaire, and 14 of 27 statements reached consensus. In round 3, 68 participants completed the questionnaire, and all 10 statements reached 72% or more consensus.

Conclusion: The 10 consensus recommendations developed in this study can guide future research and public health programs performing genomic NBS. This process also identified key areas of participant discordance, highlighting important topics for future research.

Keywords: Delphi technique; Gene selection; Genomic sequencing; Newborn screening.

Published by Elsevier Inc.

PubMed Disclaimer

Conflict of interest statement

Conflict of Interest Derek Ansel is a board member for Gene People. Wendy K. Chung is on the board of directors for Prime Medicine. Robert C. Green receives compensation for advising the following companies: Allelica, Atria, Fabric, Genomic Life, and Juniper Genomics; and is a cofounder of Genome Medical and Nurture Genomics. Kristen L. Sund is a consultant at Nurture Genomics. Petros Tsipouras is on the board of directors for PlumCare RWE, Inc. All other authors declare no conflicts of interest.

References

1. Stark Z, Scott RH. Genomic newborn screening for rare diseases. Nat Rev Genet. 2023;24(11):755–766. - PubMed
1. Wilson JMG, Jungner G. Principles and Practice of Screening for Diseases. World Health Organization; 1968.
1. Recommended Uniform Screening Panel. Accessed January 3, 2025. https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp
1. Bick D, Bick SL, Dimmock DP, Fowler TA, Caulfield MJ, Scott RH. An online compendium of treatable genetic disorders. Am J Med Genet C Semin Med Genet. 2021;187(1):48–54. - PMC - PubMed
1. Kemper Alex R., Ream Margie A., Lam KK. Review of Newborn Screening Implementation for Spinal Muscular Atrophy Final Report. The Health Resources and Services Administration (HRSA). 2020. Accessed December 9, 2024. https://www.hrsa.gov/sites/default/files/hrsa/advisory-committees/herita...

Publication types

Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Grants and funding

K08 HG012811/HG/NHGRI NIH HHS/United States

LinkOut - more resources

Full Text Sources
- Elsevier Science
Medical
- MedlinePlus Health Information
Research Materials
- NCI CPTC Antibody Characterization Program
Miscellaneous
- NCI CPTAC Assay Portal

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

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

Collaborators

Affiliations

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

Authors

Collaborators

Affiliations

Abstract

Conflict of interest statement

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Medical

Research Materials

Miscellaneous