First diagnosis made from the 100,000 Genomes Project

The West London NHS Genomic Medicine Centre (GMC), which is led by Imperial College Healthcare NHS Trust, have diagnosed their first patient via the 100,000 Genomes Project.

The project aims to transform the future of healthcare by improving our knowledge of the influence of genetics on disease. It also aims to look at how other people can be helped with similar diseases in the future and how different types of tests can be developed to detect changes beyond the genome.

The West London GMC also includes Royal Brompton and Harefield NHS Foundation Trust, Royal Marsden NHS Foundation Trust and Chelsea and Westminster Hospital NHS Foundation Trust.  

12 year-old Sadia Begum is now the first patient to receive a diagnosis of her rare condition, Primary Ciliary Dyskinesia or PCD. Sadia and her parents were recruited to the project at a routine clinic at Royal Brompton Hospital and although she had been clinically diagnosed with PCD, the exact genetic cause had not been clarified.

PCD is a condition characterised by lingering respiratory tract infections and patients may also have abnormally placed internal organs. Sadia was found to have a mutation in both copies of her DNAH5 gene which results in the cilia (the hair-like projections on the surface of cells) in her airways not being as flexible and motile as they should be. As a result there is an in increased build-up of mucus in her lungs, making her more prone to infection.

The West London GMC received Sadia’s results back from the project in December 2016. The result has now been validated and confirmed and fed back to Sadia and her family.

Speaking of the diagnosis, Sadia’s mother Rahima, said:  “Immediately after Sadia was born she started to sneeze and had a lot of mucus coming out of her nose. Initially she couldn't feed properly because she was unable to breathe through her nose.

“She was referred to ear, nose and throat clinics from an early age and when she was three years old she had her adenoids and tonsils removed. It wasn’t until she was around five years old that doctors finally diagnosed her with PCD. There were mixed emotions. Initially it was a shock because we weren't expecting this kind of underlying illness.

“It was a relief that we knew what her illness was and then also upsetting because for five years no one knew what was wrong with her and at such a young age she had a number of procedures done which in hindsight maybe weren't necessary. Had she been diagnosed earlier then maybe her lungs would be in a better condition”

Dr Deborah Morris Rosendahl, validation and laboratory lead for the West London GMC, said:

“It’s very common for these very rare diseases to go undiagnosed for a long time and patients and their families suffer as a result. With this project the time it takes to sequence a whole human genome has been dramatically reduced and will allow for speedier diagnoses as part of routine care.”

The West London GMC is actively recruiting patients and their families to the project and has so far recruited over 1,000 participants. Patients who have not had a confirmed diagnosis of their rare genetic condition via routine genetic testing are eligible to have their genome sequenced and analysed. No-one has ever attempted whole genome sequencing of this scale before as part of everyday care in hospitals. So far over 22,000 genomes have been sequenced since December 2014. The full 100,000 genomes are projected to be completed by December 2018.

For more details on referral and recruitment, contact:

  • Sharday Morgan-StPrix, Project Manager for the 100,000 Genome Project at Imperial College Healthcare NHS Trust, on 020 331 10265 or by email
  • Geraldine Sloane, Project Manager for the 100,000 Genome Project at Royal Brompton and Harefield NHS Foundation Trust, on 020 7352 8121 or by email
  • Rainer Golombek Project Manager for the 100,000 Genome Project at Chelsea & Westminster Hospital NHS Foundation Trust on 020 331 58209 or by email
  • Janine Salter, Project Manager for the 100,000 Genome Project at Royal Marsden NHS Foundation Trust on 0208 642 6011 or by email

For more information about the project, visit the Genomics England website.