An international partnership designed to improve equality in access to genomic medicine for a rare disease has now provided potentially life-saving genetic testing for over 1,100 families across the world. 

Congenital Hyperinsulinism affects the pancreas, causing blood sugar (glucose) levels to drop dangerously low. Genetic testing ensures children are on the best treatment for them.  Importantly, testing can also predict whether a baby has a form of disease in which the entire pancreas produces too much insulin, or a smaller region in the pancreas oversecretes insulin, known as focal disease. Focal disease can be cured by a surgery to remove these cells. Getting this surgery early reduces risk of a brain injury caused by low blood glucose levels. Around 40 per cent of children with congenital hyperinsulinism have neurologic damage resulting from a brain injury, which can be life-threatening in the most severe cases.  

Now, a new correspondence article published in Nature Health marks the success of the Open Hyperinsulinism Genes Project, a partnership between the Royal Devon University Healthcare NHS Foundation Trust, the University of Exeter, and the US-based charitable organisation Congenital Hyperinsulinism International. Co-founded and led by the mother of a child with the condition, the organisation provides funding for genetic testing for people from countries where such services would otherwise be inaccessible.  

Professor Sarah Flanagan, of the University of Exeter Medical School, leads the research programme. She said: “In Exeter, we are committed to ensuring that every child born with congenital hyperinsulinism, wherever they are in the world, can benefit from rapid, state-of-the-art genetic testing something that has not previously been possible. This project combines Exeter’s world-leading genetics expertise with knowledge of the condition and funding from Congenital Hyperinsulinism International.  

Dr Jayne Houghton, lead Clinical Scientist for this project at the Royal Devon University Healthcare NHS Foundation Trust said “This alliance is unlocking access to rapid genomic testing for families across the world, giving children the best chance in life and expanding research to be more inclusive. We believe this model should be expanded to other rare diseases.”  

Exeter provides genetic testing for families across the world who cannot access these services in their own countries. Since its launch in 2018, the Open Hyperinsulinism Genes project has funded comprehensive, rapid genetic testing for over 1,100 families living with the condition, from 63 countries across six continents. The Exeter team have delivered a genetic diagnosis for 593 (52 per cent) of these children. These results confirmed diffuse disease, where the entire pancreas oversecretes insulin, in 438 children, and predicted focal disease, where insulin is secreted from a small region in the pancreas, in 155 children. Those with focal disease can be cured by surgery. For 29 of the infants, a syndromic form of hyperinsulinism was diagnosed, enabling more appropriate clinical monitoring for the development of other symptoms.  

Exeter also leads on research into the condition, inviting all of the families to be involved in genetic studies they could not otherwise access. By recruiting people from populations that are underrepresented in genomic studies, the project increases genetic diversity and strengthens the power of the resulting findings for a global population. Research via the project has already deepened understanding of the genetic basis of congenital hyperinsulinism and advanced knowledge of the biology of insulin secretion and the regulation of genes.   

Global impact inspired by Ben 

While some countries, including the UK, offer government funded genetic testing and treatment at specialist centres, many others do not. In the US most individuals with a confirmed medical diagnosis of congenital hyperinsulinism have genetic testing covered by insurance.  

Julie Raskin’s son Ben was born with congenital hyperinsulinism. The early signs were missed, and diagnosis took a week, leaving him with a brain injury that caused low vision and epilepsy and learning disabilities and fine motor issues. Her campaign for better diagnosis led her to join with other parents to found Congenital Hyperinsulinism International, of which she is now CEO.  

Julie, from Glen Ridge, New Jersey, “As a mother who knows intimately the effect of congenital hyperinsulinism on my son and entire family, I see the enormous value of understanding its genetic cause. It sets expectations for how the future will unfold; which treatment options to pursue, and which will not be fruitful.”  

“Research and humanitarian components of this project are vital to end preventable and lifelong brain injuries. Our project enables families from every country access to a world-leading laboratory with specific expertise in congenital hyperinsulinism. These families are also counted in research, which is essential to increasing the overall understanding of the condition. By participating, these families are part of the reason scientific research breakthroughs are made, and they can feel pride in knowing they advanced knowledge, and human health more generally.” 

The research is also supported by the Exeter NIHR Biomedical Research Centre.  The paper is titled ‘The Open Hyperinsulinism Genes Project bridges global disparities in access to genomic medicine’, and is published in Nature Health.

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