Prof. Arndt Rolfs, MD, Chief Executive Officer at Centogene discuses the challenges of diagnosing rare diseases and how rare diseases need to be considered early in the diagnostic work up.

Although physicians may not consider rare diseases in their daily practices, it is likely that most clinicians encounter patients suffering from these disorders on a somewhat regular basis. Because there are approximately 7000 rare diseases, it is unrealistic to expect clinicians to know exactly which symptoms are unique to a rare condition compared with those that are more likely due to a common ailment. The Rare Disease Community usually offers the following advice for doctors when presented with a patient with a challenging or difficult case to diagnose:

1. Refer your patients to a specialist or to a physician with more experience with rare diseases.
2. Listen to your patients and their caregivers.

It is often said that patients are the experts in their rare disease and as information has become readily available on-line, many patients and caregivers have begun to educate doctors on the possibility of a rare condition. That, along with the increased number of orphan drugs available, well-organized patient advocacy groups, and better search engines, has helped increase awareness of rare diseases.

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