What is a rare disease?
A rare disease is defined as one that affects fewer than one-in-2,000 of the general population.
Though that sounds a small number, there are more than 7,000 known rare diseases, and this number is steadily increasing due to improvements in technology and understanding.
It is estimated that one-in-17 people will be affected by a rare condition at some point, which means that over three million people are affected at any one time in the UK. Rare diseases are individually rare but collectively common.
All health professionals will come into contact with patients and families with rare conditions – and it’s important to know how you can best provide support.
Click through the infographics to learn more.
What does genomics have to do with it?
Genomics – the study of DNA – is increasingly gaining attention for its potential to help people with rare disease. But it’s important to remember that the term ‘rare disease’ includes a family of genomic and non-genomic conditions: that is, it describes both rare conditions that are definitely or considered likely to be caused by changes in a person’s DNA and those that are definitely not, or thought not to be.
Genomic rare diseases are a subcategory of conditions that are caused by alterations in our DNA, known as genomic variants. Every individual person has genomic variants that make them unique. While some of these variants are simply responsible for the diversity we see in people, others can cause disease. Disease-causing genomic variants can either be inherited from a person’s parents or arise for this first time – ‘de novo‘ – in an individual.
We’re learning more about genomic rare diseases all the time. Modern sequencing technology and testing offer several opportunities, for example:
- research is made easier and cheaper;
- it may be possible to diagnose patients who previously had no diagnosis; and
- new drugs and therapies can sometimes be developed once a precise genomic cause is identified.
Click on the videos below to watch stories from patients and families with confirmed or suspected genomic rare conditions.
Different types of rare disease
There are many different types of rare disease and we are learning more all the time. Our current understanding is that rare diseases fall broadly into four categories:
Single gene
Caused by a variant or variants in just one gene, for example cystic fibrosis or neurofibromatosis 1.
Chromosomal
Changes to structure/number: loss or gain of whole chromosomes (monosomy, trisomy) or sections (deletions, duplications); inversions; translocations. For example, cri-du-chat.
Multifactorial
Caused by a combination of genomics and environmental factors – including anything from diet and lifestyle to pollution or other illness – for example spina bifida.
Non-genomic
Those conditions that do not have a defined genomic cause – currently believed to be around 20-30% of rare diseases – such as myasthenia gravis.
The impact of living with a rare condition
Whether their condition is genomic or not, people living with rare disease often report facing similar challenges; challenges that result from the rarity of their condition rather than the pathophysiology itself.
What can healthcare professionals do?
Making progress
Huge advances have been made in the field of rare disease – particularly when it comes to genomics – over time. Click on the image to learn more. (Please contact us if you require a transcript.)
It’s interesting to see just how many of these advances have been made since the turn of this century. The hope is that the speed of our advances will continue to increase – and genomic technology plays a part in that.
It’s clear, however, that much more needs to be done for people with both genomic and non-genomic rare conditions. See below for more information about the action that the UK is taking in this area.
Taking action for rare disease
The NHS Genomic Medicine Service
The 100,000 Genomes Project, mentioned in Trent’s video, above, by his mother Claudia Beard, was a pioneering project that used whole genome sequencing – a particular type of genomic test – for the first time in the NHS to try to make new links between our genomes and genomic rare diseases and, ultimately, to find answers for families like the Beards.
The 100,000 Genomes Project paved the way for a new national Genomic Medicine Service, which intends to bring the benefit of advances in genomics to the wider public.
A full range of genomic tests, not just whole genome sequencing, is now available to clinically eligible patients in England. More clinicians outside clinical genetics are also now able to order these tests, with the aim of expediting diagnosis and treatment decisions wherever possible.
The UK Rare Disease Framework and Action Plan
The Framework
Rare disease is a priority area in healthcare. In January 2021 the UK government published The UK Rare Diseases Framework. The framework set out a community-led vision to deliver better health outcomes and improve the lives of those living with rare diseases. Each of the four UK nations was given around a year to develop an action plan that addresses the four priority areas identified by the framework:
- Helping patients get a final diagnosis faster.
- Increasing awareness of rare diseases among healthcare professionals.
- Better co-ordination of care.
- Improving access to specialist care, treatments and drugs.
It also states these underpinning themes, to be carefully considered in the formulation of the action plans:
- Patient voice.
- National and international collaboration.
- Pioneering research.
- Digital, data and technology.
- Wider policy alignment.
The action plans
England published its Rare Diseases Action Plan on 28 February 2022.
All four UK nations are developing action plans setting out how the priorities identified in the framework will be addressed, while taking into account the unique needs and situations of their respective nation. These action plans are being developed in accordance with the principles of the framework and by working closely with individuals and families with rare conditions to ensure the commitments developed are the most relevant and are actionable and measurable.
Our role
The UK Rare Diseases Framework identified that there is a great and urgent need for education in rare disease generally, and also in genomics. Our short film, produced in collaboration with ITN Productions Industry News as part of a programme with Genetic Alliance UK, explores some of those reasons.
As an educational programme tasked with delivering genomics education, training and experience for the healthcare workforce, the Health Education England’s Genomics Education Programme (GEP) has a role in tackling priority areas 1 and 2 of the framework:
- Helping patients get a final diagnosis faster.
- Increasing awareness of rare diseases among healthcare professionals.
The GEP’s activity in this area falls into three main categories:
- Scoping workforce needs and informing NHS workforce planning.
- Developing, and collaborating to inform, genomics education and training (including curricula).
- Working with various networks and decision makers to influence policy and educational delivery.
The programme collaborates with a variety of professional and patient groups to develop educational interventions, for example (this list is not exhaustive):
- 100,000 Genomes Project Participant Panel
- Academy of Medical Royal Colleges and individual royal colleges
- Charities that work closely with patient representatives, including Medics 4 Rare Disease and Genetic Alliance UK.
- England Rare Diseases Framework Delivery Group
- NHS England and NHS Improvement-funded transformation projects
- NHS Genomic Medicine Service Alliances and Genomic Laboratory Hubs
- NHS Workforce Planning
- Nursing and Midwifery Council
- Royal Pharmaceutical Society
- Sickle cell and beta-thalassemia patient group
What next?
Now that the Rare Diseases Action Plan for England has been published, the GEP will work with partners to respond to the educational requirements of the plan. This will involve new targeted educational interventions and expanding our remit to include education around non-genomic forms of rare disease.
As always, the programme welcomes contribution and collaboration. If you have any suggestions for this resource, you can contact us.
Further learning
Learn practical tips to better care for anyone with a rare condition with Medics 4 Rare Diseases’ digestible online course.
30+ minutes
Learn how genetic conditions are inherited, and how to recognise the common modes of inheritance in a family history, in this short online course.
30 minutes
Learn about key information to consider when offering a genomic test to patients and their family members in this short, flexible online course.
30 minutes
An introductory e-learning module for anyone who is working in primary care, including in nursing and pharmacy.
60 minutes
Support for patients and families
Genetic conditions
Genetic Alliance UK is a national charity providing a wealth of information and support. It is an alliance of over 200 charities that exist to support patients and families affected by various genetic conditions.
Undiagnosed and non-genomic rare conditions
Rare Disease UK is a campaign for patients and families and those who care for them.
SWAN UK (Syndromes Without a Name) provides support for children, parents and teachers in the absence of a diagnosis.
