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A novel approach to offering additional genomic findings—A protocol to test a two‐step approach in the healthcare system
Author(s) -
Martyn Melissa,
KangaParabia Anaita,
Lynch Elly,
James Paul A.,
Macciocca Ivan,
Trainer Alison H.,
Halliday Jane,
Keogh Louise,
Wale Janney,
Winship Ingrid,
Bogwitz Michael,
Valente Giulia,
Walsh Maie,
Downie Lilian,
Amor David,
Wallis Mathew,
Cunningham Fiona,
Burgess Matthew,
Brown Natasha J.,
Jarmolowicz Anna,
Lunke Sebastian,
Goranitis Ilias,
Gaff Clara L.
Publication year - 2019
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1002/jgc4.1102
Subject(s) - protocol (science) , test (biology) , health care , genetic counseling , medicine , diagnostic test , genetic testing , genomic sequencing , public health , family medicine , medical education , nursing , alternative medicine , pathology , pediatrics , genome , biology , paleontology , genetics , gene , economics , economic growth , biochemistry
Internationally, the practice of offering additional findings (AFs) when undertaking a clinically indicated genomic test differs. In the USA, the recommendation is to include analysis for AFs alongside diagnostic analysis, unless a patient opts‐out, whereas European and Canadian guidelines recommend opt‐in models. These guidelines all consider the offer of AFs as an activity concurrent with the offer of diagnostic testing. This paper describes a novel two‐step model for managing AFs within the healthcare system in Victoria, Australia and presents the study protocol for its evaluation. Adults who have received results of diagnostic whole exome sequencing undertaken within the healthcare system are invited to attend a genetic counseling appointment to consider reanalysis of their stored genomic data for AFs. The evaluation protocol addresses uptake, decision‐making, understanding, counseling challenges, and explores preferences for future models of care. Recruitment commenced in November 2017 and will cease when 200 participants have been approached. When the study is concluded, the evaluation results will contribute to the evidence base guiding approaches to counseling and models of care for AFs.