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Prof. Arndt Rolfs: Challenges of Diagnosing Rare Diseases

Prof. Arndt Rolfs, MD, Chief Executive Officer at Centogene discuses the challenges of diagnosing rare diseases. Physicians learn early in their careers that making a proper diagnosis is the first step in ensuring that patients are properly treated for their illnesses. Although making a proper diagnosis can sometimes be a challenge even for more common illnesses, in cases of patients who present with rare diseases, properly diagnosing the disorder is especially challenging. Rare diseases are problematic on many fronts: (1) providers need to keep in mind the many ambiguous clinical signs that lead to a diagnosis of a specific disease; (2) providers then need to recognize these signs in their practice settings—something that is difficult unless they are looking for them; (3) then there is the challenge of coming up with a proper diagnostic work-up and translating those reports into a diagnosis. 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.