Journal ArticleDOI
A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system
Melissa Martyn,A Kanga-Parabia,Elly Lynch,Paul A. James,Ivan Macciocca,Alison H. Trainer,Jane Halliday,Louise Keogh,Janney Wale,Ingrid Winship,Michael Bogwitz,Giulia M Valente,Maie Walsh,Lilian Downie,David J. Amor,David J. Amor,Mathew Wallis,Fiona Cunningham,Matthew Burgess,Natasha J Brown,Anna Jarmolowicz,Sebastian Lunke,Ilias Goranitis,Clara Gaff +23 more
TLDR
A novel two‐step model for managing AFs within the healthcare system in Victoria, Australia and the study protocol for its evaluation is presented, which addresses uptake, decision‐making, understanding, counseling challenges, and explores preferences for future models of care.Abstract:
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.read more
Citations
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Journal ArticleDOI
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics
Guido de Wert,Wybo Dondorp,Angus John Clarke,Elisabeth Dequeker,Christophe Cordier,Zandra C. Deans,Carla G. van El,Florence Fellmann,Ros Hastings,Sabine Hentze,Heidi C. Howard,Heidi C. Howard,Milan Macek,Álvaro Mendes,Chris Patch,Emmanuelle Rial-Sebbag,Vigdis Stefansdottir,Martina C. Cornel,Francesca Forzano +18 more
TL;DR: Depending on developing evidence on penetrance, actionability, and available resources, OGS pilots may be justified to generate data for a future, informed, comparative analysis of OGS and its main alternatives, such as cascade testing.
Journal ArticleDOI
Introducing Edna: A trainee chatbot designed to support communication about additional (secondary) genomic findings.
David Ireland,DanaKai Bradford,Emma Szepe,Ella Lynch,Melissa Martyn,Melissa Martyn,David Hansen,Clara Gaff,Clara Gaff +8 more
TL;DR: Edna's successful development represents a movement towards accessible, acceptable and well-supported digital health processes for patients to make informed decisions for additional findings.
Journal ArticleDOI
A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom?
Danya F. Vears,David J. Amor +1 more
TL;DR: A framework is proposed to help guide decision‐making, suggesting a baseline routine analysis with additional layers of analysis that could be offered, according to local laboratory policy, with additional opt‐in consent from the parents.
Journal ArticleDOI
My Research Results: a program to facilitate return of clinically actionable genomic research findings.
Amanda M. Willis,Amanda M. Willis,Bronwyn Terrill,Bronwyn Terrill,Angela Pearce,Alison McEwen,Mandy L. Ballinger,Mandy L. Ballinger,Mary-Anne Young,Mary-Anne Young +9 more
TL;DR: The My Research Results (MyRR) program as mentioned in this paper is an evidence-based two-step model, which has been successfully used in other Australian studies and is available to Human Research Ethics Committee approved studies Australia-wide and comprises genetic counselling services to notify research participants of clinically actionable research findings.
Book ChapterDOI
Implications of secondary findings for clinical contexts
Michael Morrison,Harriet Teare,Harriet Teare,Gabrielle Bertier,James M. Buchanan,Yasmin Bylstra,Clara Gaff,Leigh Jackson,Kazuto Kato,Elke Kaufmann,Susan E. Kelly,Gabriel Lázaro-Muñoz,Liis Leitsalu,Lili Milani,G. Owen Schaefer,Christoph Schickhardt,Mahsa Shabani,Erin Tutty,Eva C. Winkler,Sarah Wordsworth +19 more
TL;DR: Deciding how best to deal with unsought diagnostic or prognostic information provided by NGS techniques is one of the key issues for viable translation of genomics into clinical practice.
References
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Journal ArticleDOI
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