More than 200 rare conditions will be investigated as part of the world-leading generation study, Genomics England has announced.
The study, which is set to begin in NHS hospitals before the end of the year, centres around exploring whether sequencing babies’ genomes can detect rare conditions earlier.
The list comprises 223 rare conditions that have been selected in collaboration with subject matter experts and based on four key principles.
These are:
- Strong evidence exists that the conditions are caused by a genetic variant, and can be reliably detected.
- Many of those who have a genetic variant are likely to suffer from debilitating symptoms, if left undiagnosed.
- Early or pre-symptomatic intervention leads to significantly improved outcomes for children, compared to action taken post-symptom onset.
- The interventions for the conditions are equitably accessible to all.
Approximately 500-1,000 of the 100,000 babies who will participate in the study are expected to receive a provisional diagnosis, which will grant access to earlier treatment and testing.
Genomics England’s announcement is the “start of a journey” according to the organisation’s clinical lead for genetic counselling, Amanda Pichini.
She said: “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.”
To view the full list of conditions, click here.
Image credit: iStock
