Our genome is made from DNA - the code of life that makes us what we are.

Whether we’re talking about people, insects or viruses, we all have our own individual genomes, which are different to each other. Modern genomic sequencing now allows us to examine genomes and identify changes, known as variants, which can be linked to different features. For example, if we have blue eyes, are predisposed to a certain condition or if a particular virus is more dangerous to humans.

GOSH is a world–leader in genomics, delivering research, supporting care by guiding treatment, and working with national and international partners to find answers hidden in our genetic code.

100,000 Genomes Project

In 2012, the UK Government launched the 100,000 Genomes Project. This was an initiative that aimed to sequence 100,000 genomes from families with a rare condition or cancer in order to better understand their conditions. GOSH recruited around 2,000 children with a rare condition and their family members. GOSH also leads the North Thames Genomic Medicine Centre, a consortium of hospitals in the local area, which ultimately recruited 28% of all participants with a rare disease in the project. Recruitment ended in 2018 and the research is already bearing fruit with some of our patients receiving new diagnoses. Others have seen their prognoses improve dramatically, from taking less toxic cancer medication to understanding more about their condition.

Lyn Chitty

Professor Dame Lyn Chitty, Deputy Director of the NIHR GOSH BRC and Lead of its Genomic medicine theme

"While we are rightly proud of our huge contribution to the 100,000 Genome Project, our involvement goes way beyond recruitment. We took this opportunity to examine the views of people being offered genomic sequencing by speaking to them to understand and improve the consent process. Almost immediately, we found that genomic sequencing was hard to explain and therefore poorly understood. By working closely with the GOSH Young Persons’ Advisory Group for Research (YPAG) and local schools we developed animations that answered questions of young people."

Genomics research allows us to help children, even before they are born

If a parent has a gene for a genetic condition, we sometimes need to test their unborn baby’s genetic material, their DNA. This is usually done by putting a needle into the womb to sample the placenta (chorionic villus sampling) or amniotic fluid (amniocentesis) – but both have a small miscarriage risk.

Using sophisticated genomic techniques and careful analysis, GOSH researchers have developed tests to analyse the DNA of a baby in the womb from a simple test of the mother’s blood. This Non–Invasive Prenatal Diagnosis (NIPD) presents a safer option for parents to find out about the health of their baby and has led to a rise in families seeking out such information. This allows support to be offered much earlier, to all involved.

Our research has also helped speed up the results of genomic testing, whether during pregnancy or after birth. This allows us to intervene as early as possible, so families are not waiting on a long diagnosis before treatment can begin. These studies have helped NHS England include rapid genomic sequencing and NIPD in the National Genomic Test Directory (the register of approved genomic tests for NHS use) so everyone in England can access these tests if needed, while GOSH also offers genomic services to patients around the world.

Over the coming years, researchers will be looking at how these new tests are being used across the country and what patients and health professionals need to make sure everyone who may benefit has access to, and understands, these tests.

Genomics to tackle global obstacles

Sequencing DNA of organisms like viruses and bacteria can have a huge impact on how we track infections and treat patients. For example, during the COVID–19 pandemic, GOSH expertise was essential to the development of fast methods to sequence the whole SARS–CoV–2 viral genome, the virus responsible for COVID–19. Through a programme of work led by Professor Judy Breuer, in close collaboration with research groups across the UK, this has allowed teams to track the virus in London, support the Government to manage the pandemic and change the way viral infections are treated – all by studying the genome of the virus.

In the late spring of 2022, due to our expertise in genomics, we were approached by the UK Health Security Agency to understand why more children than normal were being diagnosed with unexplained hepatitis. This was a global concern and, together with colleagues at UCL GOS ICH, again under the leadership of Professor Judy Breuer, teams used highly specialised metagenomic techniques to better understand the reasons behind this spike, allay parents fears and find, for the very first time, a link between adeno-associated viruses and disease.