100,000 Genome Project comes to GOSH

GOSH patients, families, doctors and nurses have played a major role in the build up to a national project that hopes to analyse the DNA of tens of thousands of people with rare diseases and cancers in order to better understand, and ultimately treat, rare genetic conditions. 

Many GOSH patients have taken part in a pilot study for the 100,000 Genome Project and since November 2013 have provided blood samples to Genomics England (GEL) so that they can be studied in detail.

Many children who come to GOSH have conditions that are so rare that they are difficult to diagnose and consequently treat. The 100,000 Genome Project sets out to compare groups of people with the same broad set of conditions or healthcare problems and identify the genes that aren’t working properly. This will allow scientists and doctors to pinpoint the genetic features that disorders have in common – something that could lead to more children getting a diagnosis for their rare condition in a shorter space of time.

As part of the project, patients will donate blood or tissue samples in order for scientists to isolate DNA within their cells and ‘read’ the DNA letter by letter in order to build up a picture of their genetic code. The hope is that pooling genetic data from a large number of people and matching that with their background health information will provide insight in to the causes of rare diseases, which may allow us to develop new treatments or potentially discover how to screen for them earlier in future.

With funding from the UK Department of Health, Medical Research Council, and Wellcome Trust, the aim is to collect DNA samples and sequence 100,000 whole genomes by the end of 2017.

GOSH played an important role in the pilot study that started last year, working closely with University College Hospital and Moorfields Eye Hospital. The staff at Somers Clinical Research Facility (CRF) at GOSH opened the facility at weekends to recruit and take blood samples from children and their families from which genetic information could be gathered. Many families also travelled large distances to take part in the project. Over 1,200 blood samples have already been taken at the three partner sites and over 750 of these samples have been collected at GOSH.

Through the efforts of staff and patients involved, GOSH, University College Hospital, and Moorfields have recruited two thirds of the national total of samples to date, which is 50% more than expected. The work of this pilot study will help to improve the success of the main study announced last week.

The CRF continues to play a key part in the development of the national study and has applied to be one of the primary centres that will recruit patients and collect blood samples for the core of the study over the next three years. As many of our patients suffer from rare diseases, GOSH hopes to make the opportunity to supply samples of DNA to the study available to any families who wish to participate.

Dr William Van't Hoff, Head of the Somers Clinical Research Facility at GOSH, explains: “This project is hugely important for GOSH because, for many families, it provides a chance to try to find the cause of their child’s problem. The study combines new technological advances with analysis of health data on a massive scale and can really only be achieved in the NHS system we have in this country. As we get ready, I urge families to read more about the project so they fully understand the options when the time comes to consider their own participation.”