A landmark study has helped thousands of people across the UK better understand the root cause of their severe developmental disorders.
Supported by the National Institute for Health and Care Research and partly funded by the Department of Health and Social Care, the Deciphering Developmental Disorders study was a collaboration between the NHS and the Wellcome Sanger Institute.
Of the more-than 13,000 families across the UK and Ireland who took part in the trial, every one had children with a severe developmental disorder which, despite previous investigations, was undiagnosed.
By using the power of gene sequencing, the researchers have so far been able to provide genetic diagnoses for approximately 5,500 children, as well as identify around 60 new conditions. The study team also found that the causes of approximately three in four of the diagnosed conditions were from spontaneous mutations that weren’t inherited from either parent.
The importance of diversifying research participation was also emphasised by the study after the team found that the likelihood of getting a diagnosis was higher in families with European ancestry.
Professor of Genomic Medicine at the University of Exeter and lead author of the study, Caroline Wright, said: “The families in our study were desperate for answers, which can make a huge difference to clinical management and quality of life.
“We worked with hundreds of clinicians and scientists, as well as thousands of patients to try to find those answers. By sharing our findings, many more families in the future should get answers faster.”
The study was supported by the DECIPHER informatics platform, which aided both patient recruitment and the return of the study’s findings to the research teams.
The study’s lead clinician and senior co-author, Professor Helen Firth, said: “Embedding a powerful informatics platform at the heart of this study facilitated the collaboration with families, clinicians and scientists engaged in the project, and played a crucial role in its diagnostic success and in the discovery and ultimately treatment of new causes of rare genomic disease.”
The role of responsible data sharing was highlighted by senior co-author Matthew Hurles, who is an Honorary Professor of Human Genetics and Genomics at the University of Cambridge, and incoming Director of the Wellcome Sanger Institute.
“Undiagnosed patients with rare genetic diseases have the most to lose if they are not given an opportunity to participate in research and if their data are kept in silos,” said Matthew.
“Many of these diagnoses were only made possible through combining data across all diagnostic centres in the UK and Ireland. For some diagnoses, it was only through sharing data with international colleagues that it was possible to make a diagnosis.
“As these genomic technologies move into routine healthcare, ensuring that undiagnosed patients can still benefit from research on their data will remain incredibly important.”
