You are here

  • Home
  • Archive
  • Volume 13, Issue 6
  • Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol

Article info

Article menu

Download PDFPDF

Genetics and genomics
Protocol
Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol

Authors

  • Sophie E Bouffler Australian Genomics Health Alliance, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Ling Lee Melbourne Genomics Health Alliance, Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, AustraliaMurdoch Children’s Research Institute, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Fiona Lynch Murdoch Children’s Research Institute, Parkville, Victoria, AustraliaDepartment of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Melissa Martyn Melbourne Genomics Health Alliance, Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, AustraliaMurdoch Children’s Research Institute, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Elly Lynch Melbourne Genomics Health Alliance, Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, AustraliaVictorian Clinical Genetics Services, Murdoch Children’s Research Institute, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Ivan Macciocca Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, Victoria, AustraliaVictorian Clinical Genetics Services, Murdoch Children’s Research Institute, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Lisette Curnow Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Giulia McCorkell Australian Genomics Health Alliance, Parkville, Victoria, AustraliaDepartment of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Sebastian Lunke Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, Victoria, AustraliaVictorian Clinical Genetics Services, Murdoch Children’s Research Institute, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Belinda Chong Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Justine E Marum Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Martin Delatycki Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, Victoria, AustraliaVictorian Clinical Genetics Services, Murdoch Children’s Research Institute, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Lilian Downie Murdoch Children’s Research Institute, Parkville, Victoria, AustraliaVictorian Clinical Genetics Services, Murdoch Children’s Research Institute, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Ilias Goranitis Australian Genomics Health Alliance, Parkville, Victoria, AustraliaHealth Economics Unit, Centre for Health Policy, Melbourne Schoold of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Danya F Vears Murdoch Children’s Research Institute, Parkville, Victoria, AustraliaDepartment of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Stephanie Best Australian Genomics Health Alliance, Parkville, Victoria, AustraliaDepartment of Health Services Research, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Marc Clausen Genomics Health Services Research Program, St. Michael’s Hospital, Unity Health Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Yvonne Bombard Genomics Health Services Research Program, St. Michael’s Hospital, Unity Health Toronto, Toronto, Ontario, CanadaInstitute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Zornitza Stark Australian Genomics Health Alliance, Parkville, Victoria, AustraliaVictorian Clinical Genetics Services, Murdoch Children’s Research Institute, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Clara L Gaff Melbourne Genomics Health Alliance, Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, AustraliaMurdoch Children’s Research Institute, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Clara L Gaff; clara.gaff{at}melbournegenomics.org.au
View Full Text

Citation

Bouffler SE, Lee L, Lynch F, et al
Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol
BMJ Open 2023;13:e072999. doi: 10.1136/bmjopen-2023-072999

Publication history

  • Received February 20, 2023
  • Accepted May 20, 2023
  • First published June 2, 2023.
Online issue publication 
June 02, 2023
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)) 2023. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.