Emma TonkinUniversity of South Wales · Faculty of Life Sciences and Education
Emma Tonkin
PhD (Aberdeen)
About
64
Publications
8,050
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1,468
Citations
Citations since 2017
Introduction
Senior Research Fellow within the Genomics Policy Unit.
I am undertaking research around genetics/genomics applied to healthcare practice (particularly within nursing and midwifery) and I am actively involved in the expansion and development of the free online teaching and learning resource Telling Stories, understanding Real Life Genetics www.tellingstories.nhs.uk
Skills and Expertise
Additional affiliations
May 2005 - January 2011
NHS National Genetics Education and Development Centre
Position
- Education Development Officer
March 2005 - present
September 1998 - April 2005
Position
- PostDoc Position
Description
- Identified the first gene known to be altered in Cornelia de Lange syndrome. Translocation breakpoint mapping; positional cloning, gene identification, mutation analysis
Publications
Publications (64)
Background:
Cardiovascular disease is a leading cause of death worldwide and genetic risk factors play a role in nearly all such cases. In the UK, health service capacity to meet either current or future estimated needs of people affected by inherited cardiac conditions (ICCs) is inadequate. In 2008 the British Heart Foundation funded nine three-y...
To report a review of a genetics education framework using a consensus approach to agree on a contemporary and comprehensive revised framework.
Advances in genomic health care have been significant since the first genetics education framework for nurses was developed in 2003. These, coupled with developments in policy and international efforts to p...
The increasing recognition regarding the relevance of genomics across the scope of nursing healthcare practice has resulted in the drive to integrate appropriate genomic knowledge and skills into nurse education and training. In this final article of the series Genetics-Genomics and Nursing Education, we will look at genetic and genomic education r...
The aim of this article is to explore the interaction between the integration of genetics-genomics competencies into nursing curricula and regulatory standards. By taking a global perspective of activity in this field, we aim to develop a framework that can inform strategic planning in relation to international genetics-genomics and nursing educati...
Cornelia de Lange syndrome (CdLS) is a multiple malformation disorder characterized by dysmorphic facial features, mental retardation, growth delay and limb reduction defects. We indentified and characterized a new gene, NIPBL, that is mutated in individuals with CdLS and determined its structure and the structures of mouse, rat and zebrafish homol...
As genomics moves into mainstream services, this chapter considers the role of the nurse in providing care that is informed by genomic tests and information. Most nurses and nurse educators have limited knowledge, skills, and behaviors in genomics which is discussed before the authors set out a number of areas that need to be taken into account whe...
Purpose:
Widespread, quality genomics education for health professionals is required to create a competent genomic workforce. A lack of standards for reporting genomics education and evaluation limits the evidence base for replication and comparison. We therefore undertook a consensus process to develop a recommended minimum set of information to...
Aim:
To evaluate the effects of a novel, immersive digital story intervention on empathy.
Design:
A randomized trial with three phases.
Results:
A total of 238 2nd year nursing students were recruited between May 2018 and December 2019. At baseline, no significant differences in empathy between the groups were found (p = .760). However, at pos...
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...
Genomic knowledge and technology have developed rapidly over the last decade and increased our capabilities to diagnose and manage rare diseases. However, current genomic datasets lack ethnic diversity as many genomic studies have focused on participants of white European ancestry. Studies, such as the Deciphering Developmental Disorders study, hav...
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...
This is the fourth in a series of papers. The previous papers inform midwifery practice by providing insight into whether, to what extent and how cognitive status influences understanding of Down syndrome screening information, the importance of tailoring information, and highlighting areas of communication that are effective in facilitating unders...
Aim
To establish whether women's cognitive status influenced their understanding of Down syndrome screening information, and to determine whether midwives offer the same oral explanation of Down syndrome screening to all women or if information was tailored to each woman based on their cognitive status.
Methods
Midwives (n=16) and women (n=100) we...
Aim
To analyse how midwives communicate Down syndrome screening information and explore whether women's understanding of this information is influenced by midwives' communicative style.
Methods
Midwives (n=16) and women (n=100) were recruited from a regional NHS unit in the UK. A mixed-methods design encompassed two components; audio-recorded ante...
Aim
To identify factors that could influence women's understanding of Down syndrome (DS) screening information presented by midwives.
Methods
Current literature was scrutinised. Components that could influence women's understanding were identified and a new framework was developed and refined. Measures were selected and developed to create a tool...
This paper details a competency framework to help address the need for structured guidance around genetic and genomic education and training for midwives.
A one-day expert panel consensus meeting was convened to review and revise a previously published joint framework for nurses, midwives and health visitors. Fifteen midwives from practice, managem...
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...
There is long-standing acknowledgement that primary care has a pivotal role in ensuring patients benefit from the rapid advances in genetic science and technologies and subsequent emergence of genomic medicine as an integral part of mainstream healthcare. However, significant deficits in knowledge and skills in genetics and genomics have been found...
Genomics is an ever increasing aspect of nursing practice, with focus being directed towards improving health. The authors present an implementation strategy for the incorporation of genomics into nursing practice within the UK, based on three behaviour change theories and the identification of individuals who are likely to provide support for chan...
In 2008 the British Heart Foundation launched an initiative to fund nine Cardiac Genetic Nurse (CGN) posts across England (n=8) and Wales (n=1) for three years in order to enhance the care and services delivered to patients and their families affected by an inherited cardiac condition (ICC). The nine CGNs were trained cardiac nurses who then had ad...
Genomics is undoubtedly a complex field, because of its scientific and technological underpinnings, and because of the psychological, social and ethical implications for individuals and families. Promoting understanding and engagement of the public is crucial to maximising the opportunities offered by its advances. The Let’s Talk About Genes projec...
AimTo identify the characteristics of nurses opinion leaders in the context of genetics in health care and consider the findings for the integration of genetics in nursing practice.Background
Nurses need a basic understanding of the role genetics plays in their practice and about how best to support patients using genetic knowledge. Opinion leaders...
This is the fifth in a series of articles on genetics. This article focuses on the science that informs health care and explains how genetics (the study of inheritance and variation) and genomics (the study of the structure and function of the genome and its interactions with the environment) relate to health, illness and care provision. This artic...
To identify the characteristics of nurses who are using genetics in practice and consider the implications of the findings for optimizing its wider uptake.
Nurses are crucial in realizing the benefits from advances in genetic and genomic health care. Although many recognize genetics as an important component of disease, most feel unprepared to enga...
Learning outcomes and practice indicators for each nursing competency in genetics/genomics.
Nursing competencies in genetics (Kirk et al. 2003).
The rapid increase in gene-disease discoveries offers real promise of clinical applications for people and families affected by genetic conditions but for which health professionals are not prepared because of lack of training. The availability of clinically relevant education resources is critical to enabling nurses to develop the appropriate gene...
Advances in genetics are bringing unprecedented opportunities for understanding health and disease, developing new therapies and changes in healthcare practice. Many nurses and midwives lack competence and confidence in integrating genetics into professional practice.
One approach to enhance understanding of genetics is to simulate clinical exposur...
This second article in a two part series on genetics and genomics in healthcare focuses on the implications for nursing practice. Part 1 examined the progress of research in this area and discussed the implications for healthcare. This part outlines the nurse's role in supporting the patient pathway, and some of the ethical issues and challenges fa...
International research efforts are resulting in a knowledge revolution which is constantly improving our understanding of the role of genetics and genomics in health and ill health. This first article in a two part series outlines the of this research and discusses its implications for healthcare.
The drive to ensure that primary care health professionals in Britain receive appropriate genetics education has made substantial progress in recent years. The strategic initiatives that have emerged from a strong policy foundation are leading developments in education and raising awareness about the role of genetics in primary care. Although signi...
The UK government announced the establishment of an NHS National Genetics Education and Development Centre in its Genetics White Paper. The Centre aims to lead and coordinate developments to enhance genetics literacy of health professionals. The nursing program takes a strategic approach based on Ajzen's Theory of Planned Behavior, using the UK nur...
Researchers are constantly revealing more about the role of genetics in cardiovascular disease. Emma Tonkin and Imran Rafi discuss how to use this knowledge to support patients in general practice
Genetics are becoming increasingly important within healthcare, but the evidence indicates that nurses are not confident in dealing with the genetics needs of their patients, and education provision is often inadequate. An innovative approach has been used to raise awareness of genetics and simultaneously to explore the learning needs of UK nurses....
Genetics is becoming increasingly important within healthcare, but the evidence indicates that nurses are not confident in dealing with the genetics needs of their patients, and education provision is often inadequate. An innovative approach has been used to raise awareness of genetics and simultaneously to explore the learning needs of UK nurses....
The NHS National Genetics Education and Development Centre wants to find out what nurses think about genetics. Are you confident in applying genetics knowledge at work? Would you like to learn more about how genetics is relevant to your patients? Or do you think that genetics is not important in your current role?
In response to major research initiatives in genetics, the government has invested significantly in new programmes of research and development for NHS staff (Department of Health (DH) 2003. Nurses may feel that these programmes have not yet impacted on their area of practice and are unlikely to for some time. Other priorities may be felt to be more...
In her work as a learning disability nurse, Sarah had become aware that parents of people with learning disabilities were increasingly asking her about their family history in relation to a particular condition – for example, Fragile X, Down syndrome or Angelman syndrome. Often these questions seemed to follow a newspaper headline or an item on the...
Cornelia de Lange syndrome (CdLS) is a rare developmental malformation syndrome characterised by mental handicap, growth retardation, distinctive facial features and limb reduction defects. The vast majority of CdLS cases are sporadic. We carried out a high density bacterial artificial chromosome (BAC) microarray comparative genome hybridisation sc...
We have identified and characterised novel members of the mammalian polyhomeotic gene family, comprising a third human homologue, PHC3, and its mouse counterpart, Phc3. The two new genes have essentially the same genomic organisation, with 15 exons specifying proteins of 983 (PHC3) or 981 (Phc3) amino acids, with an overall sequence identity of 93%...
Cornelia de Lange Syndrome (CdLS) is a complex developmental disorder consisting of characteristic facial features, limb abnormalities, hirsutism, ophthalmologic involvement, gastroesophageal dysfunction, hearing loss, as well as growth and neurodevelopmental retardation. Most cases of CdLS appear to be sporadic. Familial cases are rare and indicat...
Cornelia de Lange Syndrome (CdLS) is a complex developmental disorder consisting of characteristic facial features, limb abnormalities, hirsutism, ophthalmologic involvement, gastroesophageal dysfunction, hearing loss, as well as growth and neurodevelopmental retardation. Most cases of CdLS appear to be sporadic. Familial cases are rare and indicat...
Projects
Projects (2)
Does exposure to patient stories influence student nurses' empathy scores?
This is an RCT comparing students who have a lecture on empathy and listen to a simulated story walk of a patient's experience of hospitalisation to those who just recieve the lecture.
The first phase of this work will be an invitation only retreat in Jan 2017 that will bring together nurse leaders from 23 countries to establish a Global Genomic Nursing Alliance. As part of the collaborative team I will be taking a highly interactive approach to work with participants and through consensus develop:
i. a roadmap that sets out how to integrate genomics into nursing education, practice and research
ii. an instrument that will be used for evaluating progress towards integration
