Literature DB >> 33722276

Involving people affected by a rare condition in shaping future genomic research.

Jack S Nunn1,2, Kylie Gwynne3,4, Sarah Gray4, Paul Lacaze5.   

Abstract

BACKGROUND: There is evidence that involving potential participants and the public in co-designing research can improve the quality of the study design, recruitment and acceptability of the research, but appropriate methodologies for doing this are not always clear. In this study we co-designed a way of involving people affected by a rare genomic disease in shaping future genomic research about the condition. The aim was to report the process, experiences and outcomes of involving people in genomic research in a standardised way, in order to inform future methods of involvement in research co-production.
METHOD: Participants were recruited from an online community hosted by an Australian-based rare disease charity and were over the age 18 years. Once people gave consent, we shared learning resources with participants and invited them to complete an online survey before joining a two-week facilitated online discussion, followed by a second online survey. We used the novel tool 'Standardised Data on Initiatives - Alpha Version 0.1' (STARDIT) to map preferences, plan involvement and report any outcomes from the process, with quantitative data analysed descriptively and qualitative data thematically analysed.
RESULTS: Of the 26 people who gave consent and completed the initial survey, 15 participated in the online discussion and 12 completed the follow-up survey. STARDIT was used to report six outcomes from the process, including 60% of participants' responses showing a change towards 'widening' their view of who should be involved in research to include more people. Outcomes also included an improved understanding of research and how to be involved. Participants enjoyed online discussions, found learning resources useful and asked to stay involved in the research process. The partner organisation reported that a similar online discussion will be used in future research prioritisation processes.
CONCLUSION: Involving people in co-designing the process improved the study design, ensuring it met the needs of participants. Whilst the study includes participants from only one disease group, using STARDIT allowed us to map people's preferences and report the methods and outcomes from involving people, providing a way for learning from this case study to inform future research studies beyond the discipline of public health genomics.

Entities:  

Keywords:  COVID-19; Case study; Co-design; Gastrointestinal; Genomics; Online; Participatory; Rare disease; Standardised data on initiatives

Year:  2021        PMID: 33722276      PMCID: PMC7958104          DOI: 10.1186/s40900-021-00256-3

Source DB:  PubMed          Journal:  Res Involv Engagem        ISSN: 2056-7529


  19 in total

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Authors:  H Burton; M Adams; R Bunton; P Schröder-Bäck
Journal:  Public Health Genomics       Date:  2008-09-03       Impact factor: 2.000

2.  Involvement in research without compromising research quality.

Authors:  Ruth Stewart; Kristin Liabo
Journal:  J Health Serv Res Policy       Date:  2012-07-19

3.  Stakeholder participation in comparative effectiveness research: defining a framework for effective engagement.

Authors:  Patricia A Deverka; Danielle C Lavallee; Priyanka J Desai; Laura C Esmail; Scott D Ramsey; David L Veenstra; Sean R Tunis
Journal:  J Comp Eff Res       Date:  2012-03       Impact factor: 1.744

4.  Influence of race and gender on the presentation of eosinophilic esophagitis.

Authors:  Sarah Lw Sperry; John T Woosley; Nicholas J Shaheen; Evan S Dellon
Journal:  Am J Gastroenterol       Date:  2011-10-04       Impact factor: 10.864

5.  From genetics to treatment of eosinophilic esophagitis.

Authors:  Antonella Cianferoni; Jonathan M Spergel
Journal:  Curr Opin Allergy Clin Immunol       Date:  2015-10

6.  Patients', clinicians' and the research communities' priorities for treatment research: there is an important mismatch.

Authors:  Sally Crowe; Mark Fenton; Matthew Hall; Katherine Cowan; Iain Chalmers
Journal:  Res Involv Engagem       Date:  2015-06-25

7.  A framework for public involvement at the design stage of NHS health and social care research: time to develop ethically conscious standards.

Authors:  Raksha Pandya-Wood; Duncan S Barron; Jim Elliott
Journal:  Res Involv Engagem       Date:  2017-04-04

8.  Selecting, refining and identifying priority Cochrane Reviews in health communication and participation in partnership with consumers and other stakeholders.

Authors:  Anneliese J Synnot; Allison Tong; Peter Bragge; Dianne Lowe; Jack S Nunn; Molly O'Sullivan; Lidia Horvat; Debra Kay; Davina Ghersi; Steve McDonald; Naomi Poole; Noni Bourke; Natasha A Lannin; Danny Vadasz; Sandy Oliver; Karen Carey; Sophie J Hill
Journal:  Health Res Policy Syst       Date:  2019-04-29

9.  GRIPP2 reporting checklists: tools to improve reporting of patient and public involvement in research.

Authors:  S Staniszewska; J Brett; I Simera; K Seers; C Mockford; S Goodlad; D G Altman; D Moher; R Barber; S Denegri; A Entwistle; P Littlejohns; C Morris; R Suleman; V Thomas; C Tysall
Journal:  Res Involv Engagem       Date:  2017-08-02

10.  Australians' views and experience of personal genomic testing: survey findings from the Genioz study.

Authors:  Jacqueline Savard; Chriselle Hickerton; Rigan Tytherleigh; Bronwyn Terrill; Erin Turbitt; Ainsley J Newson; Brenda Wilson; Kathleen Gray; Clara Gaff; Anna Middleton; Elaine Stackpoole; Sylvia A Metcalfe
Journal:  Eur J Hum Genet       Date:  2019-01-21       Impact factor: 4.246

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  3 in total

1.  Standardised data on initiatives-STARDIT: Beta version.

Authors:  Jack S Nunn; Thomas Shafee; Steven Chang; Richard Stephens; Jim Elliott; Sandy Oliver; Denny John; Maureen Smith; Neil Orr; Jennifer Preston; Josephine Borthwick; Thijs van Vlijmen; James Ansell; Francois Houyez; Maria Sharmila Alina de Sousa; Roan D Plotz; Jessica L Oliver; Yaela Golumbic; Rona Macniven; Samuel Wines; Ann Borda; Håkon da Silva Hyldmo; Pen-Yuan Hsing; Lena Denis; Carolyn Thompson
Journal:  Res Involv Engagem       Date:  2022-07-19

2.  Patient involvement in rare diseases research: a scoping review of the literature and mixed method evaluation of Norwegian researchers' experiences and perceptions.

Authors:  Gry Velvin; Thale Hartman; Trine Bathen
Journal:  Orphanet J Rare Dis       Date:  2022-05-31       Impact factor: 4.303

3.  Co-designing genomics research with a large group of donor-conceived siblings.

Authors:  Jack S Nunn; Marilyn Crawshaw; Paul Lacaze
Journal:  Res Involv Engagem       Date:  2021-12-16
  3 in total

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