Anna Middleton

Anna Middleton
University of Cambridge | Cam · Kavli Centre Ethics Science and the Public

BSc, MSc, PhD

About

154
Publications
26,743
Reads
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4,827
Citations
Introduction
Prof Anna Middleton is Associate Director of Engagement and Society in Wellcome Connecting Science, Wellcome Genome Campus, Cambridge, UK and Director of the Kavli Centre for Ethics, Science and the Public and the University of Cambridge. https://en.wikipedia.org/wiki/Anna_Middleton
Additional affiliations
January 2017 - present
University of Cambridge
Position
  • Module Co-Lead, MSt Genomic Medicine
Description
  • Co-lead on two modules: Counselling for Genomics and ELSi for Genomics
May 2015 - July 2016
Wellcome Sanger Institute
Position
  • Principal Staff Scientist, Ethics Researcher
December 2010 - June 2015
Wellcome Sanger Institute
Position
  • Researcher
Education
September 1996 - January 2000
University of Leeds
Field of study
  • PhD Genetics and Psychology
September 1993 - July 1995
The University of Manchester
Field of study
  • MSc Genetic Counselling
September 1990 - July 1993
Newcastle University
Field of study
  • BSc Genetics

Publications

Publications (154)
Preprint
Background Pediatric disorders include a range of highly genetically heterogeneous conditions that are amenable to genome-wide diagnostic approaches. Finding a molecular diagnosis is challenging but can have profound lifelong benefits. Methods The Deciphering Developmental Disorders (DDD) study recruited >33,500 individuals from families with seve...
Article
Purpose The aim of this study was to determine how attitudes toward the return of genomic research results vary internationally. Methods We analyzed the “Your DNA, Your Say” online survey of public perspectives on genomic data sharing including responses from 36,268 individuals across 22 low-, middle-, and high-income countries, and these were gat...
Article
Full-text available
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 multipl...
Article
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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, unde...
Article
Background: Genomic medicine could improve precise risk stratification, early prevention, and personalised treatment across a broad spectrum of disease. As this reality approaches, questions on the importance of public trust arise. The success of genomic medicine initiatives is influenced by the public’s trust and willingness to engage. Specific so...
Article
Full-text available
Background Public trust is central to the collection of genomic and health data and the sustainability of genomic research. To merit trust, those involved in collecting and sharing data need to demonstrate they are trustworthy. However, it is unclear what measures are most likely to demonstrate this. Methods We analyse the ‘Your DNA, Your Say’ onl...
Article
Full-text available
Background: Genomic medicine could improve precise risk stratification, early prevention, and personalised treatment across a broad spectrum of disease. As this reality approaches, questions on the importance of public trust arise. The success of genomic medicine initiatives is influenced by the public’s trust and willingness to engage. Specific so...
Article
Full-text available
Background Consumer genomic testing for nutrition and wellness, (nutritional genomics), is becoming increasingly popular. Concurrently, health‐care practitioners (HPs) working in private practice (including doctors interested in integrative medicine, private genetic counsellors, pharmacists, dieticians, naturopaths and nutritionists) are involved a...
Article
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Aim: We explore attitudes from the public in Costa Rica regarding willingness to donate DNA data for research. Materials & methods: A total of 224 Costa Rican individuals answered the anonymous online survey ‘Your DNA, Your Say’. It covers attitudes toward DNA and medical data donation, trust in research professionals and concerns about consequence...
Article
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Analyzing genomic data across populations is central to understanding the role of genetic factors in health and disease. Successful data sharing relies on public support, which requires attention to whether people around the world are willing to donate their data that are then subsequently shared with others for research. However, studies of such p...
Article
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Purpose: Nurse leaders driving strategic integration of genomics across nursing need tools and resources to evaluate their environment, guide strategies to address deficits, and benchmark progress. We describe the development and pilot testing of a self-assessment maturity matrix (MM) that enables users to benchmark the current state of nursing ge...
Article
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The legal duty to protect patient confidentiality is common knowledge amongst healthcare professionals. However, what may not be widely known, is that this duty is not always absolute. In the United Kingdom, both the General Medical Council governing the practice of all doctors, as well as many other professional codes of practice recognise that, u...
Article
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This paper reports findings from Germany-based participants in the “Your DNA, Your Say” study, a collaborative effort among researchers in more than 20 countries across the world to explore public attitudes, values and opinions towards willingness to donate genomic and other personal data for use by others. Based on a representative sample of Germa...
Article
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Purpose: The changes needed to accelerate integration of genomics across nursing are complex, with significant challenges faced globally. Common themes lend themselves to a coordinated and collaborative strategic approach to sustained change. We aim to synthesize the outputs of a research program to present a roadmap for nursing leadership to guid...
Article
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Background: Personal genomic testing (PGT) offers individuals genetic information about relationships, wellness, sporting ability, and health. PGT is increasingly accessible online, including in emerging markets such as Australia. Little is known about what consumers expect from these tests and whether their reflections on testing resonate with bio...
Article
Full-text available
Sharing de-identified genetic variant data via custom-built online repositories is essential for the practice of genomic medicine and is demonstrably beneficial to patients. Robust genetic diagnoses that inform medical management cannot be made accurately without reference to genetic test results from other patients, population controls and correla...
Article
Full-text available
Trust may be important in shaping public attitudes to genetics and intentions to participate in genomics research and big data initiatives. As such, we examined trust in data sharing among the general public. A cross-sectional online survey collected responses from representative publics in the USA, Canada, UK and Australia (n = 8967). Participants...
Conference Paper
Background The market for directly purchased personal genomic tests (PGTs) has led to their widespread availability. Their ostensible purposes include ancestry testing; educational or career planning; identifying artistic or athletic aptitudes; physical training and nutritional strategies to support fitness and wellness goals; and dating and buildi...
Article
Full-text available
Trio-based whole-exome sequence (WES) data have established confident genetic diagnoses in ∼40% of previously undiagnosed individuals recruited to the Deciphering Developmental Disorders (DDD) study. Here we aim to use the breadth of phenotypic information recorded in DDD to augment diagnosis and disease variant discovery in probands. Median Euclid...
Article
Full-text available
Public acceptance is critical for sharing of genomic data at scale. This paper examines how acceptance of data sharing pertains to the perceived similarities and differences between DNA and other forms of personal data. It explores the perceptions of representative publics from the USA, Canada, the UK and Australia (n = 8967) towards the donation o...
Article
Full-text available
Trio-based whole-exome sequence (WES) data have established confident genetic diagnoses in ∼40% of previously undiagnosed individuals recruited to the Deciphering Developmental Disorders (DDD) study. Here we aim to use the breadth of phenotypic information recorded in DDD to augment diagnosis and disease variant discovery in probands. Median Euclid...
Article
We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported)....
Article
The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function C...
Article
Full-text available
The highly specialist, hub and spoke model of Clinical Genetics, as described by the Royal College of Physicians in the UK in 1991, is under the spotlight. Whilst this has underpinned the successful delivery of genetics services historically, it may not be able to deliver genomic healthcare on its own, at scale, simply because genomic testing is no...
Article
Full-text available
Sharing de-identified genetic variant data is essential for the practice of genomic medicine and is demonstrably beneficial to patients. Robust genetic diagnoses that inform medical management cannot be made accurately without reference to genetic test results from other patients, as well as population controls. Errors in this process can result in...
Article
Full-text available
Personal genomic tests (PGTs) for multiple purposes are marketed to ostensibly healthy people in Australia. These tests are generally marketed and purchased online commercially or can be ordered through a health professional. There has been minimal engagement with Australians about their interest in and experience with ordering a PGT. As part of a...
Article
Background Genomic sequencing plays an increasing role in genetic research, also in psychiatry. This raises challenges concerning the validity and type of the informed consent and the return of incidental findings. However, no solution currently exists on the best way to obtain the informed consent and deliver findings to research subjects. Aims...
Article
Full-text available
While many people enjoy popular culture, these transactional experiences may not translate into formal or academic learning about a subject. In education and science communication settings popular culture is often presented as a source of inaccurate information about science. Different publics are often positioned as, at best, undiscriminating cons...
Article
Full-text available
Personal genomic testing using direct-to-consumer and consumer-directed models, with or without involvement of healthcare providers, is increasing internationally, including in Australia. This study forms a sub-set of the Genioz study – Genomics: National Insights of Australians. We aimed to explore Australians’ experiences with these types of test...
Article
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With the use of genetic technology, researchers have the potential to inform medical diagnoses and treatment in actionable ways. Accurate variant interpretation is a necessary condition for the utility of genetic technology to unfold. This relies on the ability to access large genomic datasets so that comparisons can be made between variants of int...
Article
Full-text available
We believe that in 2018 there are nearly 7000 genetic counselors globally, in at least 28 countries. Greater than 60% are practicing in North America. As described above, most countries with training programs in genetic counseling have adopted a 2-year Master’s degree approach, although there is variation in methods and requirements for training, c...
Article
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Background: Global genomic literacy of all health professions, including nurses, remains low despite an inundation of genomic information with established clinical and analytic validity and clinical utility. Genomic literacy and competency deficits contribute to lost opportunities to take advantage of the benefits that genomic information provides...
Article
Full-text available
Our international study, 'Your DNA, Your Say', uses film and an online cross-sectional survey to gather public attitudes toward the donation, access and sharing of DNA information. We describe the methodological approach used to create an engaging and bespoke survey, suitable for translation into many different languages. We address some of the par...
Article
Full-text available
Personal genomic testing provides healthy individuals with access to information about their genetic makeup for purposes including ancestry, paternity, sporting ability and health. Such tests are available commercially and globally, with accessibility expected to continue to grow, including in Australia; yet little is known of the views/expectation...
Article
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Background: Genomic technology can now deliver cost effective, targeted diagnosis and treatment for patients. Genetic counselling is a communication process empowering patients and families to make autonomous decisions and effectively use new genetic information. The skills of genetic counselling and expertise of genetic counsellors are integral t...
Article
Full-text available
The genetic counseling profession is continuing to develop globally, with countries in various stages of development. In some, the profession has been in existence for decades and is increasingly recognized as an important provider of allied health, while in others it is just beginning. In this article, we describe the current global landscape of t...
Article
Full-text available
Genomic data offers a goldmine of information for understanding the contribution genetic variation makes to health and disease. The potential of genomic medicine, to predict, diagnose, manage and treat genetic disease, is underpinned by accurate variant interpretation. This in itself hinges on the ability to access large and varied genomic database...
Article
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Background There is a growing support for the stance that patients and research participants should have better and easier access to their raw (uninterpreted) genomic sequence data in both clinical and research contexts. Main bodyWe review legal frameworks and literature on the benefits, risks, and practical barriers of providing individuals access...
Article
Full-text available
The first human genome project, completed in 2003, uncovered the genetic building blocks of humankind. Painstakingly cataloguing the basic constituents of our DNA (‘genome sequencing’) took ten years, over three billion dollars and was a multinational collaboration. Since then, our ability to sequence genomes has been finessed so much that by 2018...
Article
Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are frequently encountered in individuals with developmental disorders. Using a combination of human variation databases and existing animal models, we determine 22 KMTs and KDMs as...
Article
Full-text available
The first human genome project, completed in 2003, uncovered the genetic building blocks of humankind. Painstakingly cataloguing the basic constituents of our DNA (‘genome sequencing’) took ten years, over three billion dollars and was a multinational collaboration. Since then, our ability to sequence genomes has been finessed so much that by 2017...
Presentation
First empirical data to come from the Your DNA Your Say project, sharing < 10,000 English-speaking participant views on genomic data sharing.
Article
Full-text available
With CRISPR/Cas9 and other genome-editing technologies, successful somatic and germline genome editing are becoming feasible. To respond, an American Society of Human Genetics (ASHG) workgroup developed this position statement, which was approved by the ASHG Board in March 2017. The workgroup included representatives from the UK Association of Gene...
Article
Full-text available
Increasingly more psychiatric research studies use whole genome sequencing or whole exome sequencing. Consequently, researchers face difficult questions, such as which genomic findings to return to research participants and how. This study aims to gain more knowledge on the attitudes among potential research participants and health professionals to...
Article
Full-text available
Direct-to-consumer genetic testing for disease ranges from well-validated diagnostic and predictive tests to ‘research’ results conferring increased risks. While being targeted at public curious about their health, they are also marketed for use in reproductive decision-making or management of disease. By virtue of being ‘direct-to-consumer’ much o...
Article
Full-text available
In the United Kingdom, genetic counsellors work together with clinical geneticists and clinical scientist colleagues within specialist genetics services, but they also often work in multidisciplinary teams (MDTs) outside of such services. There, they contribute genetic knowledge together with expert understanding of how to communicate genetic infor...
Article
Full-text available
Despite advances in genomic science stimulating an explosion of literature around returning health-related findings, the possibility of returning entire genome sequences to individual research participants has not been widely considered. Through direct involvement in large-scale translational genomics studies, we have identified a number of logisti...
Article
Full-text available
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here we have sequenced the exomes of 4,293 families containing individuals with developmental disorders, and meta-analysed these data with data from another 3,287 individuals with similar...
Article
Full-text available
Genomic and medical data sharing is pivotal if the promise of genomic medicine is to be fully realised. Social scientists working in the genomics arena ask the public ‘how is the technology working for you?’ Empirical studies on attitudes, values and beliefs are incredibly valuable; they offer a voice from those who are, or will be, directly affect...
Article
This paper uses consumer health informatics as a framework to explore whether and how direct-to-consumer personal genomic testing can be regarded as a form of information which assists consumers to manage their health. It presents findings from qualitative content analysis of web sites that offer testing services, and of transcripts from focus grou...
Research
Full-text available
Video for the public and funders which offers and overview of the Socialsing the Genome project, what we did, how we did it and what the animations looked like.
Conference Paper
Full-text available
Preprint
Full-text available
Individuals with severe, undiagnosed developmental disorders (DDs) are enriched for damaging de novo mutations (DNMs) in developmentally important genes. We exome sequenced 4,293 families with individuals with DDs, and meta-analysed these data with published data on 3,287 individuals with similar disorders. We show that the most significant factors...
Article
Individuals with severe, undiagnosed developmental disorders (DDs) are enriched for damaging de novo mutations (DNMs) in developmentally important genes. We exome sequenced 4,293 families with individuals with DDs, and meta-analysed these data with published data on 3,287 individuals with similar disorders. We show that the most significant factors...
Conference Paper
Full-text available
Research
Full-text available
Live news interview on the Socialising the Genome research project
Article
Full-text available
Health-related results that are discovered in the process of genomic research should only be returned to research participants after being clinically validated and then delivered and followed up within a health service. Returning such results may be difficult for genomic researchers who are limited by resources or unable to access appropriate clini...