Two-step offer and return of multiple types of additional genomic findings to families after ultrara...
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
About this item
Full title
Author / Creator
Bouffler, Sophie E , Lee, Ling , Lynch, Fiona , Martyn, Melissa , Lynch, Elly , Macciocca, Ivan , Curnow, Lisette , McCorkell, Giulia , Lunke, Sebastian , Chong, Belinda , Marum, Justine E , Delatycki, Martin , Downie, Lilian , Goranitis, Ilias , Vears, Danya F , Best, Stephanie , Clausen, Marc , Bombard, Yvonne , Stark, Zornitza and Gaff, Clara L
Publisher
England: British Medical Journal Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: British Medical Journal Publishing Group
Subjects
More information
Scope and Contents
Contents
IntroductionAs routine genomic testing expands, so too does the opportunity to look for additional health information unrelated to the original reason for testing, termed additional findings (AF). Analysis for many different types of AF may be available, particularly to families undergoing trio genomic testing. The optimal model for service deliver...
Alternative Titles
Full title
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, Artists and Contributors
Author / Creator
Lee, Ling
Lynch, Fiona
Martyn, Melissa
Lynch, Elly
Macciocca, Ivan
Curnow, Lisette
McCorkell, Giulia
Lunke, Sebastian
Chong, Belinda
Marum, Justine E
Delatycki, Martin
Downie, Lilian
Goranitis, Ilias
Vears, Danya F
Best, Stephanie
Clausen, Marc
Bombard, Yvonne
Stark, Zornitza
Gaff, Clara L
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_7b9c2441a5ce4fef80e3d9c1afb28803
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7b9c2441a5ce4fef80e3d9c1afb28803
Other Identifiers
ISSN
2044-6055
E-ISSN
2044-6055
DOI
10.1136/bmjopen-2023-072999