National rare disease registry may improve care for patients

In Sweden, more than 500,000 individuals live with a rare condition. Globally, approximately 7,000 distinct rare diseases have been identified, the majority of which have a genetic etiology. Expertise regarding these diagnoses is often limited among health care professionals. Furthermore, the lack of harmonized diagnostic coding in health information systems can result in delayed diagnosis, fragmented care and suboptimal treatment.

“Rare diseases are often characterized by complex clinical presentations affecting multiple systems, sometimes in combination with intellectual impairment, which can present barriers to patient advocacy. Many patients endure a long diagnostic journey before receiving a correct diagnosis and appropriate care,” says Marie Stenmark Askmalm, associate professor and researcher in cancer epidemiology at Lund University and senior consultant in oncology at Skåne University Hospital.

Stenmark Askmalm notes that current health care structures often are not designed to manage such complex diagnoses, particularly when multiple medical specialties must collaborate. There is a critical need for a registry that collects patient data and records shared variables in a standardized manner. Data from this national quality registry can contribute to the development of national clinical guidelines, assisting physicians in making accurate diagnoses and providing evidence-based treatment.

In 2023, Stenmark Askmalm was tasked by Sweden’s National Programme Area for Rare Diseases to lead the development of this registry. RaraSwed is now being gradually implemented across the Swedish health care system. It consolidates structured information on molecular genetic diagnosis, diagnostic coding, clinical symptoms, genetic findings, disease progression and treatment. These data are used for research and the continuous development of health care quality.

“I love quality registries—they are essential because they provide empirical evidence rather than anecdotal reports. This is fundamental to Sweden’s national system for knowledge-driven management within health care, which aims to ensure that care is based on research evidence, follows national clinical guidelines and reduces regional disparities,” says Stenmark Askmalm.

To evaluate the feasibility of this framework, the researchers published a Health Policy perspective study on the registry’s development and national implementation, focusing on the methodology for extracting homogeneous data from heterogeneous disease groups. The study highlights significant structural challenges, including variations in medical records and IT infrastructure across Sweden’s health care regions. A further challenge concerns data interoperability and sharing when regions must collaborate on patient health data, especially given varying legislative interpretations.

“Participation in the registry is based on collaborative dialogue with the regions. While data collection is in its initial phases, we can already observe variations in reporting practices between different regions,” says Sanna Mansoob, doctoral student at Lund University and resident physician in pediatrics at Skåne University Hospital.

The website of the Centre for Rare Diseases allows stakeholders to monitor regional reporting in real time. These differences may be due to reporting practices or may indicate that some regions lack the necessary genetic testing capabilities to identify rare diseases. The registry is a key component of the effort to ensure more equitable and accessible health care for people living with rare diseases throughout Sweden.

“Digital health and data-driven medicine are global priorities. Our study demonstrates that a well-designed registry can transform fragmented data into actionable knowledge that benefits both the Swedish and international medical communities. This enables a more efficient, equitable health care system and ultimately improves care coordination for people living with rare diseases,” says Mansoob.

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Gaby Clark

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Andrew Zinin

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