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Fighting congenital anomalies and rare diseases with information

Data on screensWe hear a great deal about the common illnesses that affect many people such as heart disease, diabetes and cancer. However, we hear much less on rare diseases, each of which affects relatively small numbers of people. Nevertheless, if you count up everyone in the UK living with a rare disease it comes to over 3.5 million people. One in 17 of us will be affected by a rare disease at some point in our life. So although each rare disease may be very different from another, collectively rare diseases are not rare. They are an important public health issue with wide implications for health and social care.

75% of rare diseases affect children. Many are found during antenatal screening, at birth or in the early years of life. The cause is usually unknown: very infrequently they are caused by infections in pregnancy such as rubella or they may be associated with exposure to toxins or medicines, but the majority occur without any known cause.  But although we might not know what the actual cause is, increasingly we are able to identify the molecular and genetic change that underpins the disease, and this may point to new ways to treat these conditions.

In November last year the Department of Health launched the UK Rare Disease Strategy to help build understanding of rare diseases and boost research to find effective treatments and therapies.  Central to this vision is development of a National Congenital Anomaly and Rare Disease Registration Service, led by Public Health England (PHE) in partnership with patients, charities and the public. This Service will collect information on everyone with rare disease in England.

Drawing on our experience of building the National Cancer Registration Service for England we will work with patients and their carers, clinicians and researchers to understand how the data we collect is useful for them.  It is essential that patients’ remain in control of how their data is used and that they contribute to the Registration Service, as often with rare disease, it is the patient who is the real expert.

The first phase of this work is expanding the existing congenital anomaly registration. Currently only 49% of births are monitored by one of the seven regional congenital anomaly registers, whilst four parts of the country, including London, have no data collection at all. PHE is putting in new teams in London, the North West, the South East and the East of England while at the same time, developing a single, national data management system to collect and quality-assure the data.

Since congenital anomalies account for such a large proportion of rare diseases that the infrastructure and processes used to collect data on cases identified within the first few years of life can be easily be expanded to include the remaining rare diseases that affect adults.  The creation of a single national registration service for rare disease is an opportunity to remove some of the current fragmentation that exits and improve our understanding of this vast range of different diseases. We are looking at how this can also support Genomics England’s 100,000 Genome Project and the significant and important developments in Europe on rare disease registration.

Establishing a national Congenital Anomaly and Rare Disease Registration Service is an ambitious and very exciting programme of work and the aim is to build the core infrastructure and to expand data collection and surveillance by the end of 2015. We will be working with a wide range of partners, including relevant patient groups, who are already active in this area and we hope that the register will be a contribution to their own work programmes. The national Congenital Anomaly and Rare Disease Registration Service for England Service will benefit patients, their families and carers, research, service delivery, commissioning and public health, and create a resource for the whole population that is as good as the best in the world.

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  1. Comment by Bren posted on

    Hello Christine, Jem, and Sarah,

    Thanks so much for a fantastic and really progressing blog and area of work.

    I really liked the aspect of truly engaging and involving the patient, family and carer in this work, and it will then truly deliver a co produced vision to actual. Good on you al for this.

    The perspective you identify is also one of timescale and I saw 2015 cited. I think it will be very interesting to look what goals you set post 2015 too.

    A really great blog and thanks to you all for all you do at Public Health England.


  2. Comment by John Davis posted on

    It is nice article about public health matters. I hope it would be useful for others too.