OI has been listed on Genomics England’s published list of conditions that will be screened for as part of the Newborn Genomes Programme research study (“the Generation Study”).
The list of conditions that will be screened for as part of the research study was published recently by Genomics England. The list is available via their website. You can also find out more information here.
Leading NHS Geneticist and member of the BBS Medical Advisory Board, Dr Meena Balasubramanian, said “I think it is good and is a positive step but then looking at the list, it has Col1A1/A2/ IFITM5 and none of the other more severe forms [of OI], which would be useful to pick up. But then again those may be picked up through antenatal scans anyway.”
“It is very interesting to see the power of genome sequencing and harnessing the advances in genomic technologies to inform management of children born with Osteogenesis Imperfecta, long before they sustain a fracture and diagnostic odyssey that many families suffer from.”
“But, also being realistic saying ‘early diagnosis in the newborn period may come with its own challenges about knowing what the course of the condition might be and the uncertainty in these situations’ would be good.”