Genomics – So much more than rare diseases


Dr Emma Tonkin

Associate Professor Emma Tonkin, University of South Wales (USW), has been appointed as the Academic Lead in the project delivery team for the National Nursing and Midwifery Genomics Transformation Project, funded by NHS England and NHS Improvement.

Working in collaboration with all seven NHS Genomic Medicine Service (GMS) Alliances, the delivery of the project will be led and coordinated by North East and Yorkshire NHS GMS Alliance. The project will be implementing tools Dr. Tonkin and international collaborators in the Global Genomics Nursing Alliance (G2NA), have developed and published.

Genomics is a field that is providing evidence to improve healthcare from preconception to end of life and delivering opportunities for health services to move from a model of intervention to one focused on prediction and prevention.

Dr. Tonkin said: “I am delighted to be contributing to this project. For most nurses and midwives, genomics hasn’t typically been a part of their role. However, advances in technology and clinical applications mean that they are becoming increasingly involved in providing care that uses genomic tests and information.

“Testing a person’s genome (their DNA), can inform their care. For example, screening programmes can indicate those at increased risk of certain cancers or cardiac conditions and the use of whole genome sequencing can provide early diagnoses for critically unwell newborns.

“Across the whole of the UK there is a recognition of how important genomics is to improving the health of the population and this is why the NHS England and NHS Improvement transformation projects have been established.

“Many activities (including taking and recording family history, offering tests, supporting decision making, returning results, and helping individuals and families understand what the results mean for them), will take place in mainstream care. As a result, there are a likely to be new models of service delivery, role boundaries may change, and current and future nurses and midwives all need to develop the right knowledge and skills to deliver this.

“The national transformation project will enable us to better understand where genomics is currently part of nursing and midwifery practice and what the gaps are. This will help us plan for the future to ensure the workforce is appropriately prepared and that high quality services are accessible to everyone across the whole country.”

Dr Tonkin belongs to the Genomics Policy Unit.