Genetics and genomics

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Linking genetic counseling communication skills to patient outcomes and experiences using a community-engagement and provider-engagement approach: research protocol for the GC-PRO mixed methods sequential explanatory study

Elena R Fisher, Deborah Cragun, Robert F Dedrick, Crystal Y Lumpkins, Mariana Ramírez, Kimberly A Kaphingst, Ashley Petersen, Ian M MacFarlane, Krista Redlinger-Grosse, Abdirashid Shire, Kathleen A Culhane-Pera, Heather A Zierhut

17 April 2024

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 LynchSee the full list of authors

3 April 2024

Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study

Alissa M D'Gama, Sonia Hills, Jessica Douglas, Vanessa Young, Casie A Genetti, Monica H Wojcik, Henry A Feldman, Timothy W Yu, Margaret G Parker, Pankaj B Agrawal, , VIGOR Network, Pankaj Agrawal, Tyler Allcroft, Vineet BhandariSee the full list of authors

6 February 2024

Development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in Australia

Dylan A Mordaunt, Zornitza Stark, Francisco Santos Gonzalez, Kim Dalziel, Ilias Goranitis

29 November 2023

Swedish multimodal cohort of patients with anxiety or depression treated with internet-delivered psychotherapy (MULTI-PSYCH)

Julia Boberg, Viktor Kaldo, David Mataix-Cols, James J Crowley, Bjorn Roelstraete, Matthew Halvorsen, Erik Forsell, Nils H Isacsson, Patrick F Sullivan, Cecilia Svanborg, Evelyn H Andersson, Nils Lindefors, Olly Kravchenko, Manuel Mattheisen, Hilda B DanielsdottirSee the full list of authors

4 October 2023

Development of a person-centred digital platform for the long-term support of people living with an adult-onset genetic disease predisposition: a mixed-methods study protocol

Stephanie Best, Abdullah Al Mahmud, Shivani Tyagi, Jack C W Wheeler, Abdur Rahim Mohammad Forkan, Alexandra Lewis, Nadeem Shuakat, Rohit Kaul, Aisha Ward, Nilmini Wickramasinghe, Prem Prakash Jayaraman, Alison H Trainer

30 July 2023

Randomised double-blind controlled trial of non-invasive preimplantation genetic testing for aneuploidy in in vitro fertilisation: a protocol paper

Hiu Yee Heidi Cheng, Judy F C Chow, Kevin K W Lam, Shui Fan Lai, William Shu Biu Yeung, Ernest H Y Ng

27 July 2023

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

Sophie E Bouffler, Ling Lee, Fiona Lynch, Melissa Martyn, Elly Lynch, Ivan Macciocca, Lisette Curnow, Giulia McCorkell, Sebastian Lunke, Belinda Chong, Justine E Marum, Martin Delatycki, Lilian Downie, Ilias Goranitis, Danya F VearsSee the full list of authors

2 June 2023

Protocol for a comprehensive prospective cohort study of trio-based whole-genome sequencing for underlying cancer predisposition in paediatric and adolescent patients newly diagnosed with cancer: the PREDICT study

Noemi Auxiliadora Fuentes Bolanos, Bhavna Padhye, Macabe Daley, Jacqueline Hunter, Kate Hetherington, Meera Warby, Eliza Courtney, Judy Kirk, Sarah Josephi-Taylor, Yuyan Chen, Frank Alvaro, Kristine Barlow-Stewart, Marie Wong-Erasmus, Paulette Barahona, Pamela AjuyahSee the full list of authors

30 May 2023

Implementation of a culturally competent APOL1 genetic testing programme into living donor evaluation: A two-site, non-randomised, pre–post trial design

Justin D Smith, Akansha Agrawal, Catherine Wicklund, Debra Duquette, John Friedewald, Luke V Rasmussen, Jessica Gacki-Smith, S. Darius Tandon, Lutfiyya N Muhammad, Clyde W Yancy, Siyuan Dong, Matthew Cooper, Alexander Gilbert, Aneesha Shetty, Elisa J Gordon

15 May 2023

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