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Population-based surveillance for rare congenital and inherited disorders: models and challenges
Jodi M Jackson1, Krista S Crider, Richard S Olney
1National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA. hwi4@cdc.gov
Insights
Population-based surveillance is crucial for understanding rare congenital and inherited disorders. This data helps identify causes, track outcomes, and improve treatments for affected children globally.
Area of Science:
- Pediatrics
- Genetics
- Public Health
Background:
- Congenital and inherited disorders affect millions of children worldwide, ranging from common to rare conditions.
- These disorders impose significant lifelong health burdens, disabilities, and substantial economic costs on individuals, families, and healthcare systems.
- Rare disorders, despite their low incidence, present a considerable challenge due to their impact and the difficulty in studying them.
Purpose of the Study:
- To highlight the critical role of population-based surveillance data in understanding congenital and inherited disorders.
- To emphasize the importance of such data for discovering etiologies of rare disorders with unknown causes.
- To showcase national and international surveillance systems as models for improving the understanding and management of these conditions.
Main Methods:
- Focuses on the importance of collecting and analyzing population-based surveillance data.
- Utilizes national and international surveillance systems as case studies and models.
- Discusses challenges in population-based surveillance, including diagnostic ascertainment and resource limitations.
Main Results:
- Population-based data collection is essential for advancing research on congenital and inherited disorders.
- Surveillance enables the investigation of disorder etiologies, patient outcomes, and the evaluation of interventions.
- Effective surveillance systems are vital for addressing the complexities of both common and rare pediatric conditions.
Conclusions:
- Population-based surveillance is indispensable for comprehensive understanding and management of congenital and inherited disorders.
- Overcoming challenges in data collection and resource allocation is key to enhancing surveillance effectiveness.
- Learning from existing national and international models can significantly improve our approach to studying and treating these impactful conditions.
Abstract:
Worldwide, an estimated 7.9 million children are affected by congenital and inherited disorders. Some disorders are relatively common, affecting tens of thousands of newborns annually; others are rare, involving disorders that, in extreme cases, can affect less than 30 infants per year. However, this infrequency does not reduce the impact or burden on individuals and their families. Congenital defects can cause long-term disability, have a lifelong impact on health, and cost billions of dollars in care. Collection of population-based surveillance data ideally enables the discovery of etiologies for rare congenital disorders of unknown cause, allows for examining outcomes, and evaluating treatments and interventions for children with all types of congenital and inherited disorders. Many challenges are associated with performing population-based surveillance, such as difficulty in ascertaining appropriate diagnoses and frequent unavailability of necessary resources. This chapter focuses on the importance of population-based data and uses national and international surveillance systems as models for how these rare disorders can be better understood.
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