Professor Anna Middleton
Engagement and Society
Professor Anna Middleton, is the Associate Director for Engagement and Society. Anna leads a team with expertise across social sciences methodology, psychology, genetic counselling, education, community engagement, and creative production.
Anna is a qualified genetic counsellor with a PhD in psychology and genetics from the University of Leeds. She is a Professor within the Faculty of Education at the University of Cambridge, and the Director of the Kavli Centre for Ethics, Science and the Public.
Anna is passionate about delivering research that has real practical value to patients.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
The New England journal of medicine 2023;388;17;1559-1571
Pediatric disorders include a range of highly penetrant, genetically heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a molecular diagnosis is challenging but can have profound lifelong benefits.
Public engagement with genomics.
Wellcome open research 2023;8;310
As detailed in its flagship report, Genome UK, the UK government recognises the vital role that broad public engagement across whole populations plays in the field of genomics. However, there is limited evidence about how to do this at scale. Most public audiences do not feel actively connected to science, are oftenunsure of the relevance to their lives and rarely talk to their family and friends about; we term this dis-connection a 'disengaged public audience'. We use a narrative review to explore: (i) UK attitudes towards genetics and genomics and what may influence reluctance to engage with these topics; (ii) innovative public engagement approaches that have been used to bring diverse public audiences into conversations about the technology. Whilst we have found some novel engagement methods that have used participatory arts, film, social media and deliberative methods, there is no clear agreement on best practice. We did not find a consistently used, evidence-based strategy for delivering public engagement about genomics across diverse and broad populations, nor a specific method that is known to encourage engagement from groups that have historically felt (in terms of perception) and been (in reality) excluded from genomic research. We argue there is a need for well-defined, tailor-made engagement strategies that clearly articulate the audience, the purpose and the proposed impact of the engagement intervention. This needs to be coupled with robust evaluation frameworks to build the evidence-base for population-level engagement strategies.
Scope of professional roles for genetic counsellors and clinical geneticists in the United Kingdom : Position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.
European journal of human genetics : EJHG 2023;31;1;9-12
This document is written on behalf of the two professional bodies in the United Kingdom that represent genetic counsellors (the Association of Genetic Nurses and Counsellors) and clinical geneticists (the Clinical Genetics Society) and aims to support multidisciplinary working of these professional groups highlighting within a quick-reference format, areas of shared practice and the distinctions between role profiles for a Consultant Clinical Geneticist, Principal/Consultant Genetic Counsellor and the new support role that we have termed 'Genomic Associate', see AGNC career structure . This builds on published documents that articulate the scope of practice of the clinical genetics workforce  and specifically the genetic counsellor  and clinical geneticist  roles.
The genetic counsellor role in the United Kingdom : Position on behalf of the Association of Genetic Nurses and Counsellors (AGNC), Endorsed by the Genetic Counsellor Registration Board (GCRB) and Academy for Healthcare Science (AHCS).
European journal of human genetics : EJHG 2023;31;1;13-15
What Difference Can Public Engagement in Genome Editing Make, and for Whom?
The American journal of bioethics : AJOB 2023;23;7;58-60
A public backlash towards genomics is a risk all of us working in genomics must share.
The Lancet regional health. Europe 2022;15;100347
Return of genomic results does not motivate intent to participate in research for all: Perspectives across 22 countries.
Genetics in medicine : official journal of the American College of Medical Genetics 2022;24;5;1120-1129
The aim of this study was to determine how attitudes toward the return of genomic research results vary internationally.
Towards equitable and trustworthy genomics research.
The representation of traditionally scientifically underserved groups in genomic research continues to be low despite concerns about equity and social justice and the scientific and clinical need. Among the factors that account for this are a lack of trust in the research community and limited diversity in this community. The success of the multiple initiatives that aim to improve representation relies on the willingness of underrepresented populations to make data and samples available for research and clinical use. In this narrative review, we propose that this requires building trust, and set out four approaches to demonstrating trustworthiness, including increasing diversity in the research workforce, and meaningful engagement with underrepresented communities in a culturally and linguistically appropriate manner. Capacity building globally will ensure that actual and perceived exploitation and 'helicopter' research could be eliminated.
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.
Wellcome open research 2021;6;311
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.