Research and projects


The Genomics Policy Unit is involved in a number of projects and initiatives within Wales, across the UK and internationally that focus on genomics and the health workforce. To deliver the benefits of genomics to everyday healthcare requires a prepared workforce. Deficits in genomic literacy across health professional groups are widely acknowledged and delivering the relevant genomics education at the right time and in an effective way to different health professional groups remains a significant global challenge.  The Genomics Policy Unit is also working internationally to provide tools and resources to support the wider nursing community in driving the integration of genomics across healthcare in other countries.  


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Global Leadership

Globe Genomics website 

G2NA was established under the co-leadership of Maggie Kirk (GPU) and Kathleen Calzone (National Cancer Institute, National Institutes for Health, USA) following an invitation-only workshop to consider how best to accelerate the integration of genomics into everyday nursing practice. The event brought together nurse leaders from 19 countries and the then Presidents of the International Council for Nurses, Sigma Theta Tau International and the International Society of Nurses in Genetics. 

  • The development and pilot testing of Assessment of Strategic Integration of Genomics across Nursing (ASIGN) tool - a maturity matrix for nurse leaders to facilitate and benchmark progress in genomic healthcare policy, infrastructure, education, and delivery – lead: Emma Tonkin
  • A Roadmap for global acceleration of genomics integration across nursing that brings together all of the key information gathered through G2NA (including the ASIGN tool) – lead: Maggie Kirk

The workshop was funded through the Wellcome Genome Campus Advanced Courses and Scientific Conferences (ACSC) programme, with additional support from Health Education England Genomics Education Programme, and the National Human Genome Research Institute (NIH, USA). 

The vision of the alliance is to serve as the unified international voice for advancing and integrating genomics into nursing practice. On her retirement Maggie Kirk stepped down as co-lead but remains on the steering group along with Emma Tonkin who was also a member of the original workshop collaboration.

G2NA has already completed a number of pieces of work and Emma is currently involved with the steering group on two major projects:

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Following the successful workshop, G2NA are again working with Wellcome ACSC to deliver the first international conference specifically looking at genomics within ‘general’ (non-genetic/genomic specialist) nursing. Emma Tonkin is the UK member of the conference organising committee.

Donna Pace - NHS nurse


Education and Training

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Working with Genomics Partnership Wales (GPW), a Welsh Government funded initiative, this project will provide baseline data on the current capacity of nurses and midwives working in Wales to deliver genomic healthcare. Data will inform future education and training initiatives provided through GPW.

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This ESF-funded KESS2 project aims to understand the range of educational requirements (content and pedagogy) of those working in primary, secondary and tertiary services and affiliated disciplines, and will answer the following question: What are the most effective educational interventions that can be used to up-skill the health workforce in genomics?  


This project will provide a better understanding of how genomics education can become embedded into practice. As a result of this study we hope to offer a model that other countries internationally could use as they take forward their own genomic healthcare agendas, positioning Wales as a global leader in this area.


This is a Knowledge Economy Skills Scholarship (KESS 2) with Genomics Partnership Wales. Knowledge Economy Skills Scholarships (KESS) is a pan-Wales higher-level skills initiative led by Bangor University on behalf of the HE sector in Wales. It is part funded by the Welsh Government’s European Social Fund (ESF) programme for East Wales. 

Telling Stories logo

This is a free, award-winning website that has been developed to support health professional education in genetics. Real stories have been gathered from across the UK from individuals with, at risk of, or caring for someone with a condition that has a genetic component. Through these stories, the site aims to enable practitioners to see the impact that genetic conditions can have on the lives of individuals and families and in turn encourage them to learn more about genetics as it relates to everyday practice. Each story is available to read online or print off and video clips are available for some stories. Additional information and activities are provided for each story to support their use within teaching and learning. Expert commentaries from experienced health professionals or lecturers are also available, providing additional perspectives to supplement the stories for educational purposes.


Walking in their shoes

This project has developed following the success of Telling Stories. Recognising the potential for using personal narrative within education and training the W.I.T.S team have taken a patient’s story and have created a digital story walk based around their experiences of care that occurred at different locations within a hospital. The walk has been embedded into similar areas at the University’s Clinical Simulation Suite and the team [Drs. Deborah Lancastle, Stuart Parsons, Emma Tonkin & Juping Yu] are currently testing this education intervention with nursing students.  For more information please contact the project lead Dr. Juping Yu.



Lynda Civil_Nursing Lecturer Nurse

Professional Competence

In a field where technological advances move quickly and developments in healthcare applications are increasingly being introduced into the National Health Service (NHS) it is important that the level of competence required by health professionals is reviewed regularly and revised as necessary. Back in 2003 the GPU was commissioned by the Department of Health to define by consensus, a framework of competencies (including learning outcomes and practice indicators) in genetics for all nurse, midwives and health visitors. Two reviews were undertaken in 2010 in collaboration with the NHS National Genetics Education and Development Centre and separate frameworks for nursing and midwifery were produced.  The GPU is working with Health Educations England’s Genomics Education Programme during 2019/20 to review and revise the nursing framework. The original framework provided the basis for Core Competencies in Genetics for Health Professionals in Europe (Document 03 health professionals (nurse, midwife and AHPs) who are generalist or specialising in a field other than genetics) produced by EuroGentest, and the sickle cell and thallassaemia counselling competencies.
 

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In 2013 Maggie Kirk and Emma Tonkin were members of the working group that produced the framework of core genetic competencies for this specialist workforce for this specialist workforce. The competencies are based on the framework originally produced by the GPU. Emma Tonkin is currently working with Public Health England’s screening programme to review and revise this framework. 


Child NursingCompleted Projects

A significant amount of work undertaken as part of this work strand was delivered by Prof. Maggie Kirk and Dr. Emma Tonkin as part of the National Genetics Education and Development Centre’s (NGEDC) UK-wide Nursing Professions Programme which Maggie led from 2005 to 2012. [The NGEDC is now the Genomics Education Programme at Health Education England.


Genetics-book


Working with editors from seven specialist nursing journals at RCN Publishing we produced articles for each readership that included examples of where genetics is relevant to that area of practice. Alongside each article was a short questionnaire. Readers were asked to tell us how they view genetics as it relates to their job. We used the original seven statements from the nursing professions’ competence framework and asked whether they saw each as being important to their job, how much they used it and whether they were confident in using it. In addition, the questionnaire asked about barriers and facilitators to learning and the types of learning environments they preferred.



What are the characteristics of genetic nurse adopters and nurse opinion leaders in genetics and genomics? Nurses are crucial in helping to translate the advances in genetics and genomics into healthcare, however the integration of genetics/genomics into nursing education, training and job roles has been sporadic. Influencing incorporation into practice may be via nurses who are already utilising genetics/genomics in their practice (adopters) and nurses who may lead the way and encourage others (opinion leaders) to do likewise.

This study sought to identify the characteristics of adopters and opinion leaders in this area with the potential that it could provide useful information for more wide-scale identification of such individuals in the future and inform strategies for the inclusion of genetics/genomics into nursing practice. The study concluded that nurses can be categorised in terms of their relationship to genetics/genomics through a number of distinguishing characteristics. 

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This independent evaluation adopted a case-study approach to assess the impact of nine newly appointed cardiac nurses (in England and Wales) who had been up-skilled in genetics. We conclude that the CGN model is fit for purpose and that the CGNs can make an effective, value for money contribution to ICC services, facilitating efficient service delivery across the specialties of cardiology and clinical genetics.

Some of the CGNs were appointed to an Inherited Cardiac Conditions (ICC) service that had not, or had only just, been established. As a result, the evaluation team worked with a group of stakeholders and produced, through consensus, an outcomes framework of service development indicators that defined what an effective and sustainable ICC service would look like as it developed over time.

Further details of this evaluation and the outcomes framework are available in the Executive Summary to BHF.

Technological advances are being made in the way Down syndrome can be screened in pregnancy resulting to changes in the way Down syndrome screening is now being offered in the UK. Public understanding of genetics is variable across the country and each woman will have a different requirement for screening information. 

This research was designed to reveal women’s understanding of Down syndrome screening information presented by midwives in antenatal booking appointments, and whether, to what extent and how, their cognitive ability (a broad set of mental processes) and the midwives’ communicative style influences comprehension of genetic screening information.

The work of the GPU in defining and promoting the competencies in genomics required by all nurses and midwives is an ongoing piece of work.

In a field where technological advances move quickly and developments in healthcare applications are increasingly being introduced into the National Health Service (NHS) it is important that the level of competence required by health professionals is reviewed regularly and revised as necessary. 

Back in 2003 the GPU was commissioned by the Department of Health to define by consensus, a framework of competencies (including learning outcomes and practice indicators) in genetics for all nurse, midwives and health visitors. Two reviews were undertaken in 2010 in collaboration with the NHS National Genetics Education and Development Centre and separate frameworks for nursing and midwifery were produced. 

Emma Tonkin is working with Health Educations England’s Genomics Education Programme during 2019/20 to review and revise the nursing framework and is also currently working with Public Health England’s screening programme to review and revise the Sickle cell and thalassaemia counselling competencies first written in 2013 and based on the GPU’s competence framework.


Genetics-bookGenetics/Genomics in Nursing and Midwifery: Task & Finish Group

Professor Maggie Kirk was invited to convene and chair a Task & Finish Group for the Nursing and Midwifery Professional Advisory Board at the Department of Health, to identify issues and potential solutions concerning the future of genetics/genomics for the nursing and midwifery professional workforce. Recognising that nurses and midwives at all levels of practice must be competent to deliver genomic healthcare and that professionals leaders should be informing and shaping developments to incorporate genomic healthcare, the group made 12 recommendations covering the areas of Policy, Education, Research and Professional Development.


Citizens Jury Genomics 

The Wellcome Trust funded the GPU to conduct a Citizen’s Jury with young people aged 16-19 years across Wales on the topic of ‘Genetics and Reproductive Decision Making’. 

This highly successful project engaged young people – themselves on the threshold of making reproductive decisions – in a way that genuinely allowed them to connect with the complex ethical issues associated with cutting-edge science and technology. The Jury’s recommendations were disseminated widely to key advisory and regulatory bodies, including the Human Genetics Commission, the Human Fertilisation and Embryology Authority, the Wales Assembly Government, schools, science centres and young people’s organisations. 

The aim of this project was to demonstrate how feasible, and acceptable it is to engage children aged 12-13 in South Wales with family history as it relates to cancer, so that they can increase their cancer genetics literacy over time, and become more aware of general health issues that relate to cancer. Children took part in a series of workshops and contributed to the development of a short animated film about what they think other young people need to know about genetics and cancer.


Gamy Project

Funded by the Wellcome Trust, this two year project explored the influences on the attitudes of  young people (aged 16-18) to genetics, particularly in relation to cancer genetics and cardiac genetics; how were these attitudes formed; how were they located in particular communities, such as Merthyr Tydfil in South Wales; how they related to other attitudes, for example, to reproductive decision making and lifestyle choices; and whether they changed over time and as a result of engaging with a series of tasks that were intended to promote genetic literacy.





DNA Database on Trial

The project focused on young people aged 16-19 who had been convicted of a criminal offence and whose details were already on the National DNA database. The young people worked together to put the National DNA Database on trial. The charge was: ‘That the National DNA Database is an unacceptable infringement of civil liberties’. All the roles at this Trial (jurors, witnesses, prosecution and defence) were played by these young people allowing them to think about the National DNA Database in ways they may not have previously done.

Genetics-book


Central to informing the direction of the NHS Genetics Education and Development Centre were research projects that sought to understand the needs of those in practice as well as the educators within UK universities teaching on pre- and post-registration nursing and midwifery courses.

Nurse and midwifery educators were involved in our study to identify the genetics education being delivered across the UK and the areas where support is needed. This work provides a baseline on which to measure change.