RARE Daily

Genomics England Names Rare Conditions for Test of WGS as a Newborn Screening Tool

October 3, 2023

Rare Daily Staff

Genomics England published an initial list of 223 rare conditions that will be searched for as part of its world-leading Generation Study, which the organization expects to begin in National Health Service hospitals in late 2023.

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

Thousands of children are born in the United Kingdom 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.

The initial list of 223 conditions caused by genetic changes in more than 500 different genes was decided in collaboration with NHS experts and based on four 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 more than 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.

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.

Genomics England plans to consult further on whether any additional conditions could potentially be looked for in the future as part of this study. This process will take place in early 2024.

“We’ve taken a cautious approach to the study, including our approach to choosing conditions, to make sure our processes work and families receive safe and effective care,” Amanda Pichini, clinical lead for genetic counselling at Genomics England. “We see this announcement today as the start of a journey. We’ll continue to revisit both the principles and the list of conditions to make sure we are keeping up with emerging evidence, advancements in genomics and treatment for rare conditions, as well as continuing to engage with the public, specialists and families with rare conditions.”

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