Engaged genomic science produces better and fairer outcomes: an engagement framework for engaging and involving participants, patients and publics in genomics research and healthcare implementation.

Audrey Duncanson,Joel Minion ,Yann Joly,Christine Patch,Richard Milne,Madeleine J Murtagh,Judit Kumuthini,Calvin Wai-Loon Ho ,Clara Gaff ,Kazuto Kato,Jillian Ward ,Amber Johns,Megan Doerr,Stephanie Mulrine,Mogomotsi Matshaba,Rosalyn S Ryan ,F Maleady‐Crowe ,Edward S Dove,Mwenza Blell ,Jantina De Vries,Keiko Katsui,Rachele Hendricks‐Sturrup ,William Viney,Mavis Machirori,Anna Middleton

doi:10.12688/wellcomeopenres.17233.1

Abstract

Genomic science is increasingly central to the provision of health care. Producing and applying robust genomics knowledge is a complex endeavour in which no single individual, profession, discipline or community holds all the answers. Engagement and involvement of diverse stakeholders can support alignment of societal and scientific interests, understandings and perspectives and promises better science and fairer outcomes. In this context we argue for F.A.I.R.E.R. data and data use that is Findable, Accessible, Interoperable, Reproducible, Equitable and Responsible. Yet there is a paucity of international guidance on how to engage publics, patients and participants in genomics. To support meaningful and effective engagement and involvement we developed an Engagement Framework for involving and engaging participants, patients and publics in genomics research and health implementation. The Engagement Framework is intended to support all those working in genomics research, medicine, and healthcare to deliberatively consider approaches to participant, patient and public engagement and involvement in their work. Through a series of questions, the Engagement Framework prompts new ways of thinking about the aims and purposes of engagement, and support reflection on the strengths, limitations, likely outcomes and impacts of choosing different approaches to engagement. To guide genomics activities, we describe four themes and associated questions for deliberative reflection: (i) fairness; (ii) context; (iii) heterogeneity, and (iv) recognising tensions and conflict. The four key components in the Engagement provide a framework to assist those involved in genomics to reflect on decisions they make for their initiatives, including the strategies selected, the participant, patient and public stakeholders engaged, and the anticipated goals. The Engagement Framework is one step in an actively evolving process of building genomics research and implementation cultures which foster responsible leadership and are attentive to objectives which increase equality, diversity and inclusion in participation and outcomes.

Highlights

Genomic1 science is increasingly central to the provision of health care
Producing and applying robust genomics knowledge is a complex endeavour in which no single individual, profession, discipline or community holds all the answers (Murtagh et al, 2011)
Aligning societal and scientific interests, understandings and perspectives of diverse stakeholders promises better science and fairer outcomes (Murtagh et al, 2018; Nunn et al, 2019; Shabani et al, 2021). To achieve this requires responsible leadership which enables collaboration between those working in the area of genomic science and those who choose to contribute their genomic data, or who are impacted by the application of genomics: (1) participants of studies that inform scientific development in genomics, (2) patients who may be directly affected by genomic science and technologies, and (3) members of the public globally

Summary

Introduction

Genomic1 science is increasingly central to the provision of health care. Producing and applying robust genomics knowledge is a complex endeavour in which no single individual, profession, discipline or community holds all the answers (Murtagh et al, 2011). Allowing for continuity and change, engagement and involvement can lead to better long-term insights to support societal alignment and respect for participants, patients and publics over the life course of genomics research and implementation. Quality: Involving participant, patient and public stakeholders in research can improve the relevance and impact of genomics, but the quality and quantity of data collected.

Results

Conclusion