Jacob has a rare disease. His parents never found out the reason why he developed this condition and are worried about other people in the family being affected. Would you feel equipped to support Jacob and his family?

Rare diseases are individually rare but collectively common, with 1 in 17 people in the UK affected by a rare disease. Rare diseases include those that are more prevalent, such as cystic fibrosis (which affects over 9,000 people in the UK) to those conditions where only a few people in the world are affected. There are between 6,000 and 8,000 known rare diseases, with around 5 new conditions being described in the medical literature every week.  

It is thought that 80% of all rare disease occurs due to changes in an individual’s DNA. Thanks to advances in technology, many of these changes can now be identified through reading all of a person’s DNA - their genome. Achieving a diagnosis of a rare disease can often be a long and complicated journey. Projects such as the 100,000 Genomes Project are showing the true potential of genomic analysis and the impact it can have on an individual and their families, providing answers where previously there were none.

Watch our short film to find out the impact genomics has made to one patient and his family in achieving their rare disease diagnosis.

How will nurses play their part?

The NHS aims to be a world leader in delivering genomic healthcare. Genomic information can help in making a rare disease diagnosis and support management and treatment decisions. Nurses play a key role throughout this patient journey, and need to be ready with the tools required to communicate genomic information, understand the implications of results, and provide appropriate support.

Rare Disease Day is an annual event on 28^th February that is designed to raise awareness across the world about rare diseases and their impact on patients’ lives. Health Education England’s (HEE) Genomics Education Programme (GEP) would like to engage with the nursing community to discuss how nurses can support patients and their families with rare diseases, and what the future may bring for individuals in terms of diagnosis and treatment, in particular:

• How often do you encounter patients with a rare disease in your practice?
• What role should nurses play in supporting these patients and their families?
• Have you sought consent from a patient for a research project on rare disease?
• How confident would you feel in talking to a patient about how genomics can help in diagnosis and treatment?
• What helpful advice do you have for talking with patients and their families about rare disease?

What is the Genomics Education Programme?

The GenomicsEducation Programme has been set up to support the education and training of healthcare professionals in genomic medicine. The programme has three main aims:

1)    Support NHS professionals involved in the 100,000 Genomes Project.

2)    Support the wider transformation of services to integrate genomics technologies into healthcare.

3)    Up skill existing staff so they can make the most of genomic technologies in their work.

The programme will meet these aims through the provision of a range of educational and training resources. For more information, visit our website or email us at genomicseducation@hee.nhs.uk 

About our guest hosts

Will Evans General Practitioner and father of a child with a rare disease Dr Will Evans is the father of Sam who is nine and has Niemann Pick type C (NP-C), a rare neurodegenerative lysosomal storage disorder that affects approximately 80 people in the UK. Will is also the chairman of NPUK the patient advocacy and support group for those affected by NP diseases. Will works as a GP in Leeds, and has an interest in education, diagnostics and rare diseases.He is currently studying part time for a MSc in Genomic Medicine. He has published articles, written e-learning modules and taught a range of audiences on rare diseases.

Pooja Dasani Pooja is a Principle Genetic Counsellor working as a genomics education lead at the West Midlands Genomic Medicine Centre. Pooja has had various roles over the last eight years of working for the service including developing education materials and managing a local community genetic counselling project that aimed to transmit genetic risk information across cultural and language barriers. Pooja now works across cancer and general genetics. Pooja is an active member of the Birmingham Women’s hospital operations team for the 100,000 genomes project.

Sue Hatton Sue is a Senior Nursing Policy Manager with Health Education England. Sue trained as a general and children’s nurse and has a wealth of experience working across children’s services. The majority of her strategic work has been within the West Midlands and across London. At Regional Office, Strategic Health Authority, Department of Health and Health Education England, she has held a variety of positions in maternity, child health and nursing across strategy, policy and workforce. She has been fortunate to have been involved or led on a number of national projects around maternity, children’s palliative care, health visiting, general practice nursing and child health.

Michelle Bishop Dr Michelle Bishop is the Education Development Specialist for HEE’s Genomics Education Programme. She has worked in genetics and genomics education for a number of years, previously working at the NHS National Genetics Education and Development Centre and has a PhD in the field of genetics education. Michelle supports the work of the Genomics Education Programme by providing educational and clinical expertise through resource production, leading curricular development for specialist workforce training and driving the wider NHS workforce transformation in genomics.

Ed Miller Dr Ed Miller is a Senior Education Development Officer for HEE’s Genomics Education Programme. Ed provides scientific and educational support to the programme through development and production of a range of resources for the NHS workforce. Before joining the Genomics Education Programme, Ed researched DNA damage repair and replication and has a PhD from the University Birmingham in this area. During his time as a researcher he gained valuable experience in science communication and public engagement developing, organising and presenting events to educate a wide range of audiences.