Staff Directory

Emma 2

Contact Details


PhD (Human Genetics) University of Aberdeen
BSc (Hons) Applied Biological Science (Biomedical Science) University of the West of England


As Associate Professor in Genomic Healthcare and lead for Health Professional Education & Engagement within the GPU, Emma’s work centres on the delivery of genomic healthcare to improve patient, family and community outcomes globally. Primarily working with the nursing and midwifery professions, her work has focused on health professional education and engagement and service development initiatives within the UK for mainstreaming genomics across health services.


Emma’s background is in the field of human genetics (molecular biology, gene mapping and identification). She completed her PhD following periods of research at the Universities of Cardiff and Aberdeen where she investigated the mutational mechanism (‘triplet repeat expansion’) that underlie a group of conditions that include Huntington Disease, Myotonic Dystrophy and Fragile X syndrome. In 1998 she moved to the Institute of Human Genetics, Newcastle University where she studied the genetic basis of Cornelia de Lange syndrome. As part of this project Emma worked with the UK patient group ( to help families understand the research and the potential implications associated with identifying the genes involved. It was from this that Emma decided to move into genetics education and in 2005 joined Prof. Maggie Kirk within the Genomics Policy Unit (GPU).

From 2005-2012 her research position at the University ran concurrently with her role within the NHS National Genetics Education and Development Centre (Birmingham) as Education Development Officer for the UK-wide Nursing Professions Programme (led by Prof. Kirk).

She applies both qualitative and quantitative methods to her research and has experience in service evaluation, consensus development and needs analysis. Most recently Emma co-organized an event with colleagues in the UK and US to being together representatives from 19 countries to develop a roadmap and benchmarking tool to drive nursing and genomics forward internationally [visit Global Genomics Nursing Alliance for more information]. Emma regularly teaches nursing and midwifery students at the university and has been closely involved in the design, development and expansion of the free online genetics teaching and learning resource Telling Stories, Understanding Real Life Genetics aimed at health professionals working outside specialist genetic services.
Emma deliver the Genomics & Society module for the University’s online PgDip/Cert Genomic Medicine and Healthcare course delivered in partnership with Diploma-MSc.
Emma was the only member of the university selected for Welsh Crucible 2012.


Tonkin E, Calzone K, Badzek L, Benjamin C, Middleton A, Patch C, Kirk M. (2020) A Roadmap for Global Acceleration of Genomics Integration Across. Nursing. Journal of Nursing Scholarship (Open Access) doi:10.1111/jnu.12552

Sharif SM, Blyth M, Ahmed M, Sheridan E, Saltus R, Yu J, Tonkin E, Kirk M. (2020) Enhancing inclusion of diverse populations in genomics: A competence framework. J Genet Couns.29:282–292

John S, Kirk M, Tonkin E, Stuart-Hamilton I. (2020) How to have the ‘ideal’ Down syndrome screening discussion at antenatal appointments. British Journal of Midwifery 28 (2):96-103

John S, Kirk M, Tonkin E, Stuart-Hamilton I. (2020) The influence of women’s cognitive status on their understanding of Down syndrome screening. British Journal of Midwifery 28 (1):34-41

John S, Kirk M, Tonkin E, Stuart-Hamilton I. (2019) Influence of midwife communication on women’s understanding of Down syndrome screening information. British Journal of Midwifery 27 (12):768-779

John S, Kirk M, Tonkin E, Stuart-Hamilton I. (2019) Development of a framework and assessment tool to investigate women’s understanding of Down syndrome screening information presented by midwives. British Journal of Midwifery 27 (11):694-715

Tonkin E, Skirton H, Kirk M. (2018) The first competency based framework in genetics / genomics specifically for midwifery education and practice. Nurse Education in Practice 33:133-140

Calzone K, Kirk M, Tonkin E, Badzek L, Benjamin C, Middleton A. (2018) Increasing Nursing Capacity in genomics: Overview of Existing Global Genomic Resources. Nurse Education Today 69:53-59

Calzone K, Kirk M, Tonkin E, Badzek L, Benjamin C, Middleton A. (2018) The Global Landscape of Nursing and Genomics. Journal of Nursing Scholarship (Open Access)

Kirk, M and Tonkin, E (2016) Genetics and Genomics Education of Primary Care Health Professionals in Britain (version 3.0). In: eLS. John Wiley & Sons, Ltd: Chichester. DOI: 10.1002/9780470015902.a0005874.pub3

Leach V, Tonkin E, Lancastle D, Kirk M (2016) A strategy for implementing genomics into nursing practice informed by three behaviour change theories. Int J Nurs Pract. 2016 Jun;22(3):307-15. doi: 10.1111/ijn.12431. Epub 2016 May 30.

Andrews V, Tonkin E, Lancastle D, Kirk M (2014) Identifying the characteristics of nurse opinion leaders to aid the integration of genetics in nursing practice.J Adv Nurs 70 (11): 2598-611

Andrews V, Tonkin E, Lancastle D, Kirk M (2014) Using the Diffusion of Innovations theory to understand the uptake of genetics in nursing practice: identifying the characteristics of genetic nurse adopters. J Adv Nurs 70 (4):879-93

Kirk M, Simpson A, Llewellyn M, Tonkin E, Cohen D, Longley M (2014) Evaluating the role of Cardiac Genetics Nurses in inherited cardiac conditions services using a maturity matrix. Eur J Cardiovasc Nurs 13 (5): 418-28

Kirk M, Tonkin E, Skirton H (2014) An iterative consensus-building approach to revising a genetics/genomics competency framework for nurse education in the UK. Journal of Advanced Nursing 70 (2): 405-20 doi: 10.1111/jan.12207 Epub 2013

Tonkin E, Skirton H (2013) The role of genetic/genomic factors in health, illness and care provision. Nursing Standard 28 (12): 39-46
This article is one of a series of eight papers. Each article considers one of the nursing competences in genetics.

Kirk M, Tonkin E, Simpson A, Longley M, Llewellyn M, Cohen D, Edwards A. (2012) Evaluation of the British Heart Foundation Cardiac Genetics Nurses Service Development Initiative – Final Report.

Kirk M, Morgan R, Tonkin E, McDonald K, Skirton H (2012) An objective approach to evaluating an internet-delivered genetics education resource developed for nurses: using Google Analytics™ to monitor global visitor engagement. Journal of Research in Nursing 17 (6):557-579 doi: 10.1177/1744987112458669

Kirk M, Tonkin E, Skirton H, McDonald K, Cope B, Morgan R (2011) Storytellers as partners in developing a genetics education resource for health professionals Nurse Educ. Today doi:10.1016/j.nedt.2011.11.019

Tonkin E, Calzone K, Jenkins J, Lea D, Prows C (2011) Genomic Education Resources for Nursing Faculty. J Nurs Scholarsh. 43(4):330-340. doi: 10.1111/j.1547-5069.2011.01415.×.

Kirk M, Calzone K, Arimori N, Tonkin E (2011) Genetics-genomics competencies and nursing regulation. J Nurs Scholarsh. 43(2):107-16. doi: 10.1111/j.1547-5069.2011.01388.x

Kirk M and Tonkin E (2009) Understanding the role of genetics and genomics in health 1: background. Nursing Times 105: 45: 18-22.

Kirk M and Tonkin E (2009) Understanding the role of genetics and genomics in health 2: implications for nursing practice. Nursing Times; 105: 46, 19-23.
The above two commissioned articles are also accompanied by further extensive web content, edited by Tonkin and Kirk.

Morgan R, Tonkin E, Kirk M (2009) A chance to be heard: what motivates people to tell their healthcare stories? Interconnection Quarterly Journal 2(5) Online journal available at (

Kirk M, Tonkin E Genetic Education of Primary Care Health Professionals in Britain. Encyclopedia of Life Sciences, John Wiley and Sons 2008. Invited update of an earlier article authored by M Kirk. 10.1002/9780470015902.a0005874.pub2

Tonkin E, Rafi I (2008) Genetic factors in heart disease: implications for the practice nurse. Submitted. Invited article, Practice Nursing 19(4):185-188

Kirk M, Tonkin E and Burke S (2008) Engaging nurses in genetics: the strategic approach of the NHS National Genetics Education and Development Centre. Journal of Genetic Counseling 17(2):180-188

Tonkin E, Kirk M (2007) Genetics – your nursing role. Primary Health Care 17(8):15-18

Kirk M, Tonkin E and McDonald M (2007) Genetics and the Primary Care Nurse. Practice Nurse 34(8): 28-31

Kirk M, Tonkin E and Birmingham K (2007) Working with publishers: a novel approach to ascertaining practitioners’ needs in genetics education. Journal of Research in Nursing 12(6):597-615

Kirk M, Tonkin E (2006) Genetics Education for Nursing Professional Groups: Survey of practice and needs of UK educators in delivering a genetics competence framework. Pontypridd: University of Glamorgan, 1-84054-147-4

Kirk M, Tonkin E, Barr O (2006) Genetics and learning disability practice: is it part of your role? Learning Disability Practice 9(7):33-38

Kirk M, Tonkin E, De D (2006) Genetics in Emergency Care. Emergency Nurse 14(5):12-16

Kirk M, Tonkin E, Gaff C (2006) Primary care nursing and genetics: it isn’t part of your role, is it? Primary Health Care 16(7):34-38

Kirk M, Tonkin E, Marshall D (2006) Genetics and paediatric nursing. Paediatric Nursing 18(7)34-36

Kirk M, Tonkin E, Patch C (2006) Genetics: is it part of your role? Nursing Older People 18(8):22-26

Kirk M, Tonkin E, Platt K (2006) Genetics is it part of your role? Cancer Nursing Practice 5(7):20-24

Kirk M, Tonkin E, Skirton H, Carberry A (2006) Genetics in mental health nursing: is it part of your role? Mental Health Practice 10(1):15-20

Tonkin E, Wang T-J, Lisgo S, Bamshad M, Strachan T. (2004) NIPBL, encoding a homologue of fungal Scc2-type sister chromatid cohesion proteins and Drosophila Nipped-B, is mutated in Cornelia de Lange syndrome. Nat. Genet. 36(6):636-41.

Tonkin E, Smith M, Eichorn P, Jones S, Imamwerdi B, Lindsay S, Jackson M, Wang T-J, Ireland M, Burn J, Krantz I, Strachan T. (2004) A giant novel gene undergoing extensive alternative processing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. Hum. Genet. 115(2):139-48

Tonkin E, Hagan DM, Li W, Strachan T. (2002) Identification and characterisation of novel mammalian homologues of Drosophila polyhomeotic permits new insights into relationships between members of the polyhomeotic family. Hum Genet. 111(4-5):435-42.

Krantz ID, Tonkin E, Smith M, Devoto M, Bottani A, Simpson C, Hofreiter M, Abraham V, Jukofsky L, Conti BP, Strachan T, Jackson L. (2001) Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome. Am. J. Med. Genet. 101(2):120-9.


2016 Member of the Leadership team for the Global Genomics Nursing Alliance (G2NA)

2016 Member Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC) Educational Products Working Group. The ISCC facilitates interactions among health professional organisations and individuals, and the Institutes & Centers of the National Institutes for Health, USA to exchange practices and resources in genomic education and clinical care.

2005 – Present. Member of the British Society for Genetic Medicine (BSGM), Association of Genetic Nurses and Counsellors (AGNC) and the International Society of Nurses in Genetics (ISONG).

2006 – 2010. Member of Scientific and Clinical Advisory Team for the Cornelia de Lange Syndrome Foundation (CdLS), UK and Ireland.
This is a multidisciplinary group of professionals with particular interests and expertise relevant to the wellbeing of children and adults with CdLS who play an active role in supporting and advising the CdLS Foundation and representatives of the board of trustees.


Current Research / Programmes of work

Currently Emma is working on the development and pilot testing of a tool for the Assessment Of Strategic Integration Of Genomics Across Nursing (ASIGN) as part of the G2NA initiative.

She is also working with USW colleagues Dr Juping Yu, Dr Deborah Lancastle and Dr Gareth Parsons on the Walking in their Shoes project – an immersive story walk as a tool to develop empathy in healthcare staff.

Emma led on a project Prioritising the Evidence base for Genomics in Nursing (PrEGeN). This study, funded by a University RIS grant, was undertaken with Prof. Maggie Kirk and Dr Deborah Lancastle, (both USW) in collaboration with Hillary Burton (PHG Foundation), Alastair Kent OBE (Genetic Alliance) and Prof. Heather Skirton (Plymouth University)

Developing networks for educators and practitioners to support and promote genetics education.

Telling Stories,understanding real-life genetics. Emma is contributing to the ongoing development of this web-based multi-media resource. Real stories provided by patients, carers and health professionals provide insight into the realities of living with, or supporting someone with a genetic condition. Each story comes with supporting material, activities and further information that can be used for teaching or self-directed learning. In 2009, the site won the Association of Healthcare Communicators “Best use of new media award”.Further Information.

Completed Research

Fit for Practice in the Genetics/Genomics Era: During 2010 Emma, along with colleagues Prof. Maggie Kirk and Kevin McDonald (GPU), Prof. Marcus Longley (Welsh Institute of Health and Social Care at the University of Glamorgan) and Prof. Heather Skirton (University of Plymouth) are undertaking a review of the knowledge, skills and attitudes required by nurses and midwives. Revised competence frameworks are now available. See Kirk, Tonkin &Skirton (2014) for details of the nursing framework and associated learning outcomes and practice indicators.

Evaluation of the British Heart Foundation (BHF) Cardiac Genetics Nurses Service Development Initiative: Between 2008 and 2011 Emma and Maggie worked with colleagues from the Welsh Institute of Health and Social Care (University of Glamorgan/USW) to evaluate an initiative funded by the British Heart Foundation. The study looked at nine new Cardiac Genetic Nursing posts (across England and Wales) that have been created within service for Inherited Cardiac Condition. See Kirk et al 2014 for details.

Curriculum review of current genetics education provision at UK higher education institutions teaching nurses, midwives and health visitors. Download: Genetics Education for Nursing Survey

Practitioners’ needs analysis. Using the genetics competences developed for the nursing professions (Kirk et al. 2003), this study aimed to obtain the views of a broad variety of practitioners and looked at their perceptions of genetics within their current role and perceived barriers to further learning. (See publications list for seven associated articles: Kirk, Tonkin and Guest Author (2006) which accompanied the initial study and the findings published in the Journal of Research in Nursing with colleagues Kirk and Birmingham).

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