World-leading genome study spells hope for sick babies

The largest study of its kind in the world, the Next Generation Children’s Project, uses whole genome sequencing that delivers results within a two to three week window in the NHS.

The study found that one in four babies had an underlying genetic condition and that in the majority of the cases, the diagnosis changed their treatment plan.

The advanced genome sequencing will help doctors identify genetic conditions in neonatal and paediatric intensive care units and enable doctors to intervene earlier, manage conditions more effectively, potentially improve outcomes and even save lives.

Importantly, parents who lose a child are more likely to be spared the agony of not knowing the full reasons why, and will be able to make more informed decisions about trying for a family again.

Proving that genomic tests are possible will have an impact on early diagnosis and treatment plans. This study will pave the way for this kind of testing to be offered nationally.