Manchester Genomics Service, part of Saint Mary’s Hospital, was delighted to welcome to Manchester yesterday Professor Dame Sue Hill, Chief Scientific Officer at NHS England and Professor Mark Caulfield, Chief Scientist at Genomics England to celebrate Greater Manchester’s contribution to the 100k Genome Project.
Reflecting on how the Manchester Genomic Centre was the first UK centre to recruit a patient to the 100k Genome Project, Prof Hill congratulated the Centre on its contribution to a UK wide achievement of 97,993 samples of DNA being collected over a three year period.
She said Manchester stood out for its systematic approach to education and training to raise awareness of the Genome Project in clinical areas, as well as its approach to patient and public engagement, its effective integration of genomic medicine into clinical pathways and its work through cancer champions to enhance recruitment. Through its work on the project, the Centre has collected over 5,500 samples from participants with rare diseases and cancer.
Manchester was one of 13 centres which took part in the three-year long 100k Genome Project and is now hosting one of seven confirmed national Genomic Laboratory Hubs to accelerate new ways of working to deliver the new NHS Genomic Medicine Service.
A new mechanism which switches off a gene in families affected by breast and ovarian cancer was been identifier through research co-led by Professors Gareth Evans and Bill Newman and Dr Miriam Smith from the Manchester Centre for Genomic Medicine and The University of Manchester. Known as epigenetic silencing, the research has been published in the American Journal of Human Genetics today. The research was funded by Prevent Breast Cancer and the NIHR.
Rebekah, 26 from Manchester, has a family history of early on-set breast cancer and is from one of the two families where this new variation has been identified. She said:
With such a strong family history of breast cancer, I was always aware that I might be at higher risk. When my mum was told she didn’t carry the BRCA mutation but did have this new genetic change, I decided I needed to know my risk too. Knowledge is power, so I wanted to be on the front foot and have a clear understanding of my own risk of getting breast cancer.
Thankfully, I tested as negative which means that I don’t have a raised risk. Knowing this has changed my outlook; I’m not going to be spending my life worrying about getting cancer – and any kids I later have won’t be at higher risk, either.
Rebekah, from Manchester
Manchester is leading the development of a new genetic test that could identify the risk of, and therefore help to avoid, permanent antibiotic-related hearing loss in newborn babies.
Some babies can develop irreversible hearing loss when exposed to gentamicin – a commonly used antibiotic – due to an identified genetic predisposition. Antibiotic treatment should to be started within the first hour after admission, but currently there are no suitable tests to identify those at risk of hearing loss within this timeframe. It’s hoped that the new test could allow genetic results to be available within an hour, and be performed at the patient’s bedside.
Professor Bill Newman will lead the consortium, which will work closely with parents of children previously treated on intensive care units.
We look forward to working with our colleagues in Manchester and Liverpool to assess the impact of rapid genetic testing as a method of avoiding irreversible hearing loss in babies treated with antibiotics. Successful implementation would be a first in the integration of a rapid decision making, genetic-based diagnostic in the UK NHS.
— Professor Bill Newman
Further detailare available from a news article on the Manchester Biomedical Research Centre website.