Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol

Sebastian Lunke; Sophie E Bouffler; Lilian Downie; Jade Caruana; David J Amor; Alison Archibald; Yvonne Bombard; John Christodoulou; Marc Clausen; Paul De Fazio; Ronda F Greaves; Sebastian Hollizeck; Anaita Kanga-Parabia; Nitzan Lang; Fiona Lynch; Riccarda Peters; Simon Sadedin; Erin Tutty; Stefanie Eggers; Crystle Lee; Meaghan Wall; Alison Yeung; Clara Gaff; Christopher Gyngell; Danya F Vears; Stephanie Best; Ilias Goranitis; Zornitza Stark

doi:10.1136/bmjopen-2023-081426

Article info

PDF

Genetics and genomics

Protocol

Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol

Authors

Sebastian Lunke Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, AustraliaUniversity of Melbourne, Melbourne, Victoria, Australia PubMed articles Google scholar articles
Sophie E Bouffler Australian Genomics Health Alliance, Parkville, Victoria, AustraliaMurdoch Children's Research Institute, Parkville, Victoria, Australia PubMed articles Google scholar articles
Lilian Downie Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, AustraliaUniversity of Melbourne, Melbourne, Victoria, Australia PubMed articles Google scholar articles
Jade Caruana Murdoch Children's Research Institute, Parkville, Victoria, Australia PubMed articles Google scholar articles
David J Amor University of Melbourne, Melbourne, Victoria, AustraliaMurdoch Children's Research Institute, Parkville, Victoria, Australia PubMed articles Google scholar articles
Alison Archibald Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, AustraliaUniversity of Melbourne, Melbourne, Victoria, Australia PubMed articles Google scholar articles
Yvonne Bombard Genomics Health Services Research Program, St Michael's Hospital, Toronto, Ontario, CanadaInstitute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada PubMed articles Google scholar articles
John Christodoulou University of Melbourne, Melbourne, Victoria, AustraliaMurdoch Children's Research Institute, Parkville, Victoria, Australia PubMed articles Google scholar articles
Marc Clausen Genomics Health Services Research Program, St Michael's Hospital, Toronto, Ontario, Canada PubMed articles Google scholar articles
Paul De Fazio Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia PubMed articles Google scholar articles
Ronda F Greaves Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, AustraliaUniversity of Melbourne, Melbourne, Victoria, Australia PubMed articles Google scholar articles
Sebastian Hollizeck Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia PubMed articles Google scholar articles
Anaita Kanga-Parabia University of Melbourne, Melbourne, Victoria, AustraliaMurdoch Children's Research Institute, Parkville, Victoria, Australia PubMed articles Google scholar articles
Nitzan Lang Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia PubMed articles Google scholar articles
Fiona Lynch University of Melbourne, Melbourne, Victoria, Australia PubMed articles Google scholar articles
Riccarda Peters University of Melbourne, Melbourne, Victoria, Australia PubMed articles Google scholar articles
Simon Sadedin Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia PubMed articles Google scholar articles
Erin Tutty University of Melbourne, Melbourne, Victoria, AustraliaMurdoch Children's Research Institute, Parkville, Victoria, Australia PubMed articles Google scholar articles
Stefanie Eggers Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia PubMed articles Google scholar articles
Crystle Lee Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia PubMed articles Google scholar articles
Meaghan Wall Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, AustraliaUniversity of Melbourne, Melbourne, Victoria, Australia PubMed articles Google scholar articles
Alison Yeung Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, AustraliaUniversity of Melbourne, Melbourne, Victoria, Australia PubMed articles Google scholar articles
Clara Gaff University of Melbourne, Melbourne, Victoria, AustraliaMelbourne Genomics Health Alliance, Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia PubMed articles Google scholar articles
Christopher Gyngell University of Melbourne, Melbourne, Victoria, AustraliaMurdoch Children's Research Institute, Parkville, Victoria, Australia PubMed articles Google scholar articles
Danya F Vears University of Melbourne, Melbourne, Victoria, AustraliaMurdoch Children's Research Institute, Parkville, Victoria, Australia PubMed articles Google scholar articles
Stephanie Best Australian Genomics Health Alliance, Parkville, Victoria, AustraliaDepartment of Health Services Research, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia PubMed articles Google scholar articles
Ilias Goranitis University of Melbourne, Melbourne, Victoria, AustraliaAustralian Genomics Health Alliance, Parkville, Victoria, Australia PubMed articles Google scholar articles
Zornitza Stark Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, AustraliaUniversity of Melbourne, Melbourne, Victoria, AustraliaAustralian Genomics Health Alliance, Parkville, Victoria, Australia PubMed articles Google scholar articles

Correspondence to Prof Zornitza Stark; zornitza.stark{at}vcgs.org.au

View Full Text

Citation

Lunke S, Bouffler SE, Downie L, et al

Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol

BMJ Open 2024;14:e081426. doi: 10.1136/bmjopen-2023-081426

Publication history

Received October 27, 2023
Accepted March 26, 2024
First published April 3, 2024.

Online issue publication

April 03, 2024

Previous versions

Review history

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Copyright information

© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

Log in using your username and password

Main menu

Log in using your username and password

You are here

Authors

Citation

Publication history

Request permissions

Copyright information

Read the full text or download the PDF:

Log in using your username and password