Skip to main content

Liverpool Women’s Hospital Genetic Testing in the Newborn & 100,000 Genomes Project

All newborn babies delivered at Liverpool Women’s Hospital are offered newborn screening in line with national guidance. If babies have specific conditions that require specialist genetic investigations Liverpool Women’s Hospital can offer, after full discussion with parents and with parental consent, a wide range of genetic testing to help with diagnosis. In certain circumstances this maybe as part of the 100,000 Genomes Project.

Liverpool Women’s Hospital has recently signed a new contract with IT partner, Novosco as part of the 100,000 Genomes Project.

The 100,000 Genomes project aims to sequence genomes from approximately 70,000 people, with certain types of cancer and rare diseases. The North West Coast Genomic Medical Centre (NWC GMC) is based at Liverpool Women’s Hospital and covers Merseyside, Cheshire, Lancashire and South Cumbria.

With patients consent genomes are sequenced and linked to details about an individual’s medical condition. By adding key information from medical records and putting all the data in one highly secure place, scientists can compare data from tens, thousands, or even hundreds of people with the same condition. Allowing approved scientists to have monitored access to this data is a very powerful way to understand the causes of ill health and how to treat it.

By providing the IT infrastructure for the NWCGMC, Novosco are an important partner in helping to improve the care of patients, both in the project and in the future as the Genomics Medical Services become more established.

Emma Howard, Head of Genetic Laboratories at Liverpool Women’s Hospital said “Having Novosco as a partner will enable the genetics laboratory to deliver high quality information to clinical teams”

Patrick McAliskey, Manging Director of Novosco added “We are delighted to secure the contract which will enable the trust to take genetic testing o the next level and play an important role in the identification and prevention of conditions and illness in the new-born and the wider population”

By looking at all of the 100,000 genome project data, not only allows professionals to gain more of an understanding of how DNA affects the sequencing of diseases, but also gives patients vital information to not only benefit them but also their families.

Lynn Greenhalgh, Rare Disease Lead for NWCGMC said “Embedding genomics into patient pathways will allow clinicians to diagnose conditions earlier and to offer patients personalised treatment”

Individuals with a family history of inherited rare diseases and common cancers may wish to contact their GP or clinician to ask if they may also be eligible to participate in the project.

by Liverpool Women's

Liverpool Women's

TYPE IN YOUR SEARCH AND PRESS ENTER