Can Primary Care Physicians Diagnose Rare Diseases?

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With over 6,000 identified rare diseases, diagnosing a patient can often be like searching for a needle in a haystack. And with only a limited number of specialists and specialty medical centers, rare disease patients and their families often don’t know where to turn.

A recent virtual panel discussion sponsored by Foundation Ipsen highlighted how primary care physicians can help to bridge the gap in detecting and diagnosing  rare diseases. Panelists included rare disease advocates, researchers and clinicians from across the globe.

Diagnosis Struggles

Rare disease patients often face a lengthy and difficult road to diagnosis. According to Dr. Durhane Wong-Rieger of the Canadian Organization for Rare Disorders, it takes about five to seven years for a rare disease patient to reach an accurate diagnosis. And even more troubling, patients and their families may receive one to 14 misdiagnoses before reaching the correct diagnosis.

Dr. Helen Malherbe of Rare Diseases South Africa added that challenges with infrastructure and a lack of appropriately trained health care professionals can worsen these delays in certain countries.

The Role of the Primary Care Physician

When patients are seeking answers to their symptoms and medical questions, the first place they go is their primary care physician. Therefore, it is important to provide these clinicians with the necessary tools and resources to speed up the diagnosis process for rare disease patients.

It is not possible for a primary care physician – or any physician – to become an expert in all 6,000 rare diseases. But there are still ways to equip them to better understand the process of diagnosing a patient with a rare disease. Education is an important place to start, said Dr. Eyby Leon Janampa of the Children’s National Hospital in Washington, DC. Much skepticism and misunderstanding surrounds rare diseases and genetic testing. It is important, Dr. Janampa emphasized, to educate both primary care physicians and the general population about the options.

Collaboration & Community

Collaboration is essential, explained Dr. Dong Dong, a rare disease researcher at the Chinese University of Hong Kong. Rare disease patients and their families often feel isolated in their diagnosis process. Strong social support systems within the health care system and throughout advocacy communities can help support these patients through this difficult process.

The diagnosis and detection of rare diseases has come a long way, with more than 6,000 rare diseases now identified. But there is still work that must be done to ensure a shorter timeline for accurate diagnoses. Primary care physicians can play a key role in starting to shorten that process by giving patients the answers they seek sooner.