https://healthmedia.blog.gov.uk/2016/01/11/genomes-project/

First children diagnosed through 100,000 Genomes Project

The first children to receive a genetic diagnosis through the Government backed 100,000 Genomes Project have been given their results at Great Ormond Street Hospital (GOSH), part of the North Thames Genomic Medical Centre (NTGMC).

The news has been welcomed by Life Sciences Minister, George Freeman MP.

One of the patients is 4 year old Georgina Walburn-Green. From a very young age she had a number of conditions which clinicians had not been able to diagnose. As well as both physical and mental developmental delay, they found that she had a rare eye condition that affects her sight, her kidneys didn’t function properly, and she had verbal dyspraxia meaning they don’t know if she will ever talk.

Thanks to the project, geneticists at GOSH had found a mutation in one half of a single gene in Georgia which was likely to be the cause of her problems. Her family are now hoping that over time they will find out more about her condition and her prognosis. They also hope to connect with the other families that have children with the same gene change.

Georgina's mum Amanda said:

As soon as we were on project I felt a huge sense of relief. I felt that they now had all the information needed to look at the full picture and it just required someone to decipher and understand it. There’s nothing else we could do or give and there would be no other secrets to unlock with Georgia. They had her genome and so the answers had to be there somewhere.

As well as removing a large amount of uncertainty for the families, the results stand to have a major impact on many areas of their lives including future treatment options, social support and family planning. They also have the potential to help many more children with undiagnosed conditions who may be tested for these genetic mutations early on and be offered a diagnosis to help manage their condition most effectively.

Health Secretary Jeremy Hunt said: 

Ground-breaking outcomes like this one for Georgia and her family are incredibly promising, and are the reason that this Government has invested over £200 million in bringing such revolutionary science to the NHS.

By sequencing DNA on an unprecedented scale, we are also cementing the UK’s positon as a world-leader in 21st century medicine.

GOSH Consultant in Clinical Genetics, Professor Maria Bitner-Glindzicz said:

With undiagnosed genetic conditions it really is a case of the more families we test, the more we can diagnose. In order to confidently say that a particular gene is likely to be the cause of a condition and not just natural variation that we see in everyone’s genes, we have to match up gene mutations and symptoms across several children to find common features. The more children we therefore have to cross check against, the more likely it is that we can find these common features and give a diagnosis.

NHS Chief Scientific Officer Professor Sue Hill, OBE, responsible for the NHS Genomics Programme, said:

“This is an excellent example of how whole genome sequencing can finally provide the answers that families have been seeking out for years. These new insight sets them free to make decisions about the treatment options for their child and how they move forward with future plans for their family.

“The 100,000 Genomes Project has put the NHS at the forefront of science, expanding on medical diagnosis and providing a personalised medical treatment plan based on the information that comes from their genome.

“The more people who come forward to participate in the Project, the greater the body of knowledge there will be to inform diagnoses and patient care in the future.”

The main 100,000 Genomes Project, launched in December 2014, set out to sequence 100,000 whole human genomes to help researchers and clinicians better understand, and ultimately treat, rare and inherited diseases and common cancers.

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