Sharing genomic and clinical data through DECIPHER helps clinicians identify rare diseases faster, provides answers to families, and enables scientists to advance clinical understanding of these conditions
Summary
- Rare diseases are defined as those that affect fewer than 1 in 2,000 people, which makes diagnosis challenging.
- The GenROC study collects and analyses data from nearly 550 children with genetic neurodevelopmental disorders and contributes these data to the DECIPHER database.
- The DECIPHER database stores selected genetic data and clinical information about rare diseases.
- DECIPHER helps clinicians compare cases and make faster, more accurate diagnoses, while also supporting research into disease mechanisms and potential therapeutic targets.
Rare diseases are those that affect fewer than 1 in 2,000 people . More than 7,000 such conditions exist, collectively affecting more than 300 million people worldwide. Many are caused by genetic variants that are novel or extremely uncommon. This makes diagnosis difficult, because clinicians have limited evidence to guide them. It also makes research about rare diseases challenging, as there is limited data available for study.
Early diagnosis of rare diseases is particularly important in children, as it allows timely access to essential support and interventions. However, many clinicians may never encounter a specific rare disease case in their careers.
Even after diagnosis, families often continue to face ongoing uncertainty. Parents frequently explain their child's condition to multiple clinicians, without receiving clear answers. "When there's only a few hundred known cases in the world, your doctors and nurses don't come across this [disease]. You're trying to educate them, you have to retell your story again and again," said Matt & Nicola Smith-Lilley, parents of a child with a rare disease called KBG syndrome, who is a participant in the GenROC study.
Data sharing improves understanding of rare diseases. By bringing together information from different sources, researchers can identify shared disease features, improve diagnosis accuracy, and support clinical decision-making.
Collecting data through the GenROC study
The GenROC study , led by researchers at the University of Bristol, integrates clinical and patient-reported data from nearly 550 children with rare genetic neurodevelopmental disorders.
"It's a unique study because we've got clinical information as well as parent-reported information on quite a large number of children with different genetic neurodevelopmental disorders," said Karen Low, Consultant Clinical Geneticist and Chief Investigator of the GenROC study.
A better understanding of these diseases helps clinicians predict outcomes for each child and make more informed treatment decisions. Researchers identify patterns, test hypotheses, and design research studies that were previously impossible due to small patient numbers.
To ensure that these data can be used more widely, GenROC shares its findings through DECIPHER , a data resource hosted at EMBL's European Bioinformatics Institute (EMBL-EBI).
DECIPHER stores the data
DECIPHER stores and shares information about candidate diagnostic genetic variants in over 50,000 patients alongside information about the patients' clinical symptoms.
Clinicians use the platform to identify patients with similar genetic conditions by linking genetic variants with observed symptoms. The resource becomes more useful as more data are added.
"Crucially, as more patients share their data, the information available to doctors improves, and more patients can be helped," said Helen Firth, Consultant Clinical Geneticist at Cambridge University Hospital and DECIPHER clinical lead.
Data sharing also accelerates research. "DECIPHER brings together a wide range of information (genes, proteins, molecular mechanisms, and disease associations), to help researchers understand how genetic variations lead to clinical symptoms," said Mallory Freeberg, EMBL-EBI's Human Genomics Team Lead. Researchers can then publish their findings, allowing the wider rare disease community to build on new knowledge.
The GenROC and DECIPHER collaboration has allowed researchers to develop tailored growth charts for children with genetic conditions. These charts improve clinical monitoring, and scientists will continue developing them to cover further rare conditions in the future.
From uncertainty to earlier answers
Data sharing through DECIPHER helps shorten the path to diagnosis and improve care. For clinicians, it provides a way to make better treatment decisions. For families, it helps provide answers sooner.
Charities play an important role in supporting affected families. Organisations such as Unique - the Rare Chromosome Disorder Support Group and Genetic Alliance UK connect families with similar experiences, provide trusted information about rare conditions, and advocate for better support and research.
Charities benefit from DECIPHER, using the data to offer practical support and guidance to families across the UK. In turn, DECIPHER links to resources such as Unique's rare condition guides and support groups within the Genetic Alliance UK network.
Together, data sharing initiatives, patient organisations, researchers, and clinicians are advancing understanding of rare diseases. They support earlier diagnosis and improve care for patients and families. They also drive clinical research that may lead to new treatments and insights into these rare conditions.
