وصف
Rare diseases are often difficult to identify because they affect a small percentage of the population. Public health professionals play an important role in identifying rare diseases. Early identification of rare diseases can lead to better treatment outcomes. Rare diseases may have a genetic component. Public health professionals can use surveillance systems to identify rare diseases. Collaboration with healthcare providers is important in identifying rare diseases. Rare diseases may present with unusual symptoms. Public health professionals can use screening programs to identify rare diseases. Genetic testing can be used to identify rare diseases.
Rare diseases may be misdiagnosed as more common conditions.Public health professionals should be aware of the prevalence of rare diseases in their population. Public health professionals can use electronic health records to identify cases of rare diseases. Rare diseases may have a familial pattern of inheritance.
ملخص
- Rare diseases are infrequent conditions affecting a small proportion of the population, with definitions varying across countries. WHO defines it as affecting one or less in 1,000-2,000 people. While individually rare, collectively, these diseases impact millions worldwide and constitute a significant public health burden.
- Rare diseases are heterogeneous, encompassing 7,000 to 8,000 distinct disorders. Many are chronic, progressive, debilitating, and can lead to high morbidity and mortality. A significant portion, 50-70%, affect children, and 80% have a genetic origin.
- Challenges in rare diseases include limited treatment options, delayed diagnosis, and difficulties in management. Patients often face lengthy diagnostic journeys, consulting multiple physicians before receiving an accurate diagnosis, leading to incorrect treatments and care. The term "orphan diseases" reflects the lack of research and pharmaceutical interest due to limited profitability.
- Public health approaches to rare diseases involve assessing disease burden, researching preventive methods, and promoting early identification. Strategies include genetic diagnosis for high-risk individuals, and leveraging technology like AI and machine learning to analyze electronic health records for potential cases. Public health emphasizes prevention, including prenatal and postnatal screening, alongside empowering the public and educating physicians.
- Prevention strategies include primary prevention through prenatal screening and genetic counseling, secondary prevention through early detection and medical interventions, and tertiary prevention through rehabilitation and supportive care for advanced cases.
- The UN has recognized the importance of rare diseases, promoting social inclusion, equitable access to care, and national strategies. India has implemented a National Policy for Rare Diseases in 2021, providing financial assistance, establishing centers of excellence, and supporting community outreach and diagnosis.
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