Introduction: Rare Diseases Are Not as Rare as We Think

Globally, rare diseases affect approximately 300 million people, with estimates of up to 10,000 known rare diseases. Rare diseases are increasingly being recognised as a global health priority, through inclusion in the UN Sustainable Development Goals and the upcoming WHO Resolution on Rare Diseases. People with rare diseases are frequently met with challenges in diagnosis and treatment, and often require specialist, comprehensive healthcare.

The International Rare Diseases Research Consortium (IRDiRC) unites global stakeholders to promote collaboration and advance rare disease research. Covering multiple continents, IRDiRC aims to provide accurate diagnosis and care for all rare disease patients within one year of seeking medical attention. The IRDiRC formed the Primary Care Task Force to identify priority research areas in rare diseases within primary care. This paper in The Lancet Global Health explores they key findings of the task force, with strategies to enhance primary care for rare diseases, focusing on access, early diagnosis, training, and digital initiatives.

Enhancing Primary Care

The WHO defines primary health care as a comprehensive approach that addresses broader health determinants, empowers individuals and communities, and meets essential lifelong health needs.  Primary care providers, including family physicians, general practitioners, pharmacists, and nurses, serve as the initial point of contact for many patients. Primary care is essential to health systems and often the only accessible care in some areas.

Access and Awareness of Rare Diseases

Many individuals with rare diseases remain undiagnosed, presenting complex symptoms that resemble common ailments, leading to misdiagnosis and prolonged diagnostic journeys. With over 72% of rare diseases having a genetic basis, genetic testing is critical in diagnosis. However, insufficient workforce capacity and low reimbursement rates continue to be barriers to accessing genetic services. Moreover, primary care providers face ethical and psychosocial challenges with genetic testing. Expanding genetic services and educating primary care providers on genetic testing and referrals are essential to avoid misdiagnosis and treatment delays.

Improved access to rare disease case-finding resources, can improve referrals to specialist services. Clear guidelines from specialists are essential, but equitable access remains a challenge when genetic services are confined to tertiary centres. To enhance primary care providers’ knowledge and access to genetic services for rare diseases, three strategies were proposed: telegenetics, learning communities, and a collaborative partnership between primary care providers, patients and their families, and clinical genetics providers. These strategies aim to create a patient-centred medical home model for better diagnosis and care.

Early Diagnosis and AI Integration

AI and machine learning can expedite diagnosis and improve care by analysing health records to identify suspected genetic diseases. However, increased access to genetic testing does not ensure treatment. Health technology assessment bodies need flexible processes and early collaboration to improve evidence-based decisions in rare disease care.

Training and Education in Rare Diseases

Training and education in rare diseases are crucial when primary care serves as the initial contact for patients. Providers should understand and be able to address the physical, mental, and social needs of rare disease patients. Effective communication between geneticists, specialists, and primary care providers is vital for optimising patient care. Multidisciplinary care clinics can streamline care and reduce the burden on patients and families.

Data Sharing and Digital Health

Data sharing and digital health are key to understanding rare diseases across the lifespan. Effective data capture, coding, and sharing are crucial for expediting diagnosis. Telehealth and digital technologies can manage long-term conditions, improve outcomes, and reduce hospitalisations. However, trust, governance, and secondary use of data hinder data sharing. Primary care providers need to develop data-sharing policies and raise patient awareness about their records.

Summary and Future Directions

Unlocking primary healthcare’s potential to address rare diseases requires a systemic and systematic approach. Key areas include increasing awareness and diagnostic access, targeted training, effective referral pathways, and improved digital strategies. Implementing these recommendations will ultimately improve the quality of life for these patients and reduce the burden on the healthcare system. Future directions should support policy implementation, advocate for equitable funding, address mental health needs, develop better care models, and increase funding for rare diseases.