HoFH and FCS included in the Genomics England research

On October 2nd, 2023, Genomics England released a list of more than 200 rare conditions that will be screened as part of “The Generation Study”, which will commence in National Health Service (NHS) hospitals in late 2023. The study aims to discover rare genetic conditions earlier. By leveraging the latest advancements in genomic research, the Generation Study is on a mission to unlock the full potential of early detection and intervention for rare genetic conditions. With a goal to sequence the genomes of over 100,000 newborn children, this ambitious initiative aims to lay the foundation for a future where personalised healthcare for every infant is a reality.

The initial list includes 223 individual conditions, among them homozygous familial hypercholesterolaemia (HoFH) and familial chylomicronaemia syndrome (FCS), caused by genetic changes in over 500 different genes. Those genes have been selected based on four key principles developed by Genomics England:

1. There is strong evidence that the genetic variant(s) causes the condition and can be reliably detected
2. A high proportion of individuals who have the genetic variants would be expected to have symptoms that would have a debilitating impact on QoL if left undiagnosed
3. Early or pre-symptomatic intervention for the condition has been shown to lead to substantially improved outcomes in children, compared to intervention after the onset of symptoms
4. Conditions screened for are only those for which the interventions are equitably accessible for all.

The study will identify suspected diagnoses for 500-1,000 out of the 100,000 babies who take part in this newborn screening (NBS) initiative by providing them with earlier access to testing and hopefully treatment. The initial list may be subject to further changes during the study, with any changes highlighted in an amended published list. Thousands of children are born in the UK every year with a treatable rare condition that could be detected using genome sequencing.
The inclusion of HoFH and FCS on the list of conditions to be tested for is truly inspiring. It has the potential to create preventive care for those born with these rare conditions and leave a lasting impact on both families and society. The findings will surely provide a body of evidence which will improve the care for people in the UK and beyond.
An interesting fact: Prof. Steve Humphries from the UK and FH Europe’s Scientific Committee Advisor worked with Genome England regarding HoFH and FCS. He also advocated adding HeFH into the study, but sadly it was not accepted.

Read more:

The official press release by Genomics England
The official list of selected conditions
The key 4 principles for choosing the conditions to screen for

Tags: #HoFH #FCS #Genomics #Screening #RareDiseases #Precision #screening #NBS