Transforming data into action for rare and congenital conditions

When NCARDRS launched in 2015, our vision was bold: to establish a comprehensive national service that could collect, analyse, and share high-quality data on congenital and rare conditions. By achieving national coverage for congenital condition registration in England, we’ve created a rich resource that supports clinicians, policymakers, researchers, and most importantly, patients and their families.

Our work ensures that vital data is available to evaluate public health interventions and shape services. For example, we’ve supported national screening programmes, including the evaluative rollout of Non-Invasive Prenatal Testing (NIPT), which offers families safer options for screening as part of antenatal care.

One of the greatest strengths of NCARDRS is the way it connects communities – academic, clinical, and patient-focused. Over the past decade, these collaborations have fuelled a range of studies like the MELODY study, which focused on understanding how well COVID-19 vaccines helped people with weakened immune systems. Our partnerships also extend beyond the UK, with contributions to international initiatives like EUROCAT (a European network of population-based registries for the epidemiological surveillance of congenital conditions) and the International Clearinghouse on Birth Defects Surveillance and Research (a global network advancing birth defects surveillance, research, and prevention through international data sharing and collaboration). By working together across borders, we’re helping to address global challenges and drive innovation in rare condition monitoring and prevention.

In 2024, we published our first-ever national prevalence report for rare conditions, offering insights to support service planning and policy decisions. Reports like this, alongside our National Official Statistics for Congenital Conditions, are key to ensuring our use of data is both transparent and impactful.

Whether it’s guiding rare condition case-finding initiatives or informing registries for specific conditions, NCARDRS data helps clinicians, researchers, and health leaders make better decisions for patients.

As we celebrate this 10-year milestone, we’re also looking to the future. Our focus remains on expanding our data capabilities, supporting cutting-edge research, and ensuring that the voices of those affected by rare and congenital conditions are heard and reflected in our work. NCARDRS exists because of the dedication of our teams and partners, and the trust of the communities we serve. Together, we’re transforming how data can support care and change lives and we are looking forward to making the next decade even more impactful than the last.