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Genomics England announces the rare conditions included in world-leading research study

By October 6, 2023No Comments

Genomics England have published an initial list of over 200 rare conditions that will be looked for as part of its world-leading Generation Study, which aims to start in NHS hospitals in late 2023.

The Generation Study is an NHS-embedded research study which aims to understand whether sequencing babies’ genomes can help to discover rare genetic conditions earlier. It aims to look at the DNA of over 100,000 babies and gather evidence to consider whether whole genome sequencing could be rolled out as part of a future newborn screening programme.

The initial list of 223 individual conditions caused by genetic changes in over 500 different genes was decided in collaboration with NHS experts and based on 4 key principles developed by Genomics England following a period of extensive consultation with scientists, healthcare professionals, people living with rare conditions and the public.

Genomics England reviewed over 900 genes and associated conditions against these principles. The published list only includes conditions that usually appear in the first 5 years of life and can be improved if caught early by a treatment or intervention available through NHS England.

One condition included on the list is Severe Combined Immunodeficiency (SCID). About 14 babies a year are born with SCID and without treatment, babies usually die before they are a year old. This condition means that the baby’s immune system does not work properly, so infections can be dangerous and even life-threatening. If we diagnose the condition earlier, babies can be protected from catching infections and receive a bone marrow transplant which can ‘cure’ them by replacing their faulty immune system with a healthy one.

It is estimated that the study will identify suspected diagnoses for 500-1,000 out of the 100,000 babies who take part, providing them with earlier access to testing and treatment.

The initial list published today may be subject to further change during the study with conditions being added or removed in response to emerging research and evidence. Any changes made will be highlighted in an amended published list.

Genomics England plan to consult further on whether any additional conditions could potentially be looked for in the future as part of this study. They will publicise when and how this process will take place in early 2024.

Thousands of children are born in the UK every year with a treatable rare condition that could be detected using genome sequencing. For many of these illnesses, early and effective intervention is crucial for helping these children live healthier lives.

The current NHS newborn blood spot test carried out as part of newborn screening is used to detect nine rare and serious health conditions in babies, including sickle cell disease and cystic fibrosis. However, screening a baby’s entire genome – all their DNA – alongside the current heel prick could detect many more rare, treatable conditions in their first years of life.