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1、WHITE PAPERHow market competition is changing the game in rare disease diagnosisThe influence of market events on patient outcomesBy Jason Yaffe,Vaibhav Kumar,Deepshikha Tanwar and Harsh KulkarniWHITE PAPERThe diagnosis of rare diseases,which represents a critical juncture in the patient journey,is

2、often best described as a“diagnostic odyssey.”Patients and their families frequently endure years of uncertainty,undergoing myriad tests and consultations before reaching a definitive diagnosis.The average time to obtain an accurate diagnosis is between six and nine years,with patients often consult

3、ing seven or more specialists before receiving an accurate diagnosis.Tragically,about 30%of children with rare disease die before the age of five.Given the complexity of these disorders,the need for timely and accurate diagnosis is crucial for effective management and improved patient outcomes.Rare

4、disease awareness proves crucial for improving diagnosis ratesDespite scientific advancements and increased information sharing,particularly in recent years through online resources,the challenges to timely and accurate diagnoses persist.In a 2019 NORD survey,about 50%of the patients and caregivers

5、attributed diagnostic delays to a lack of disease awareness,and 42%believed that limited medical specialization caused delays.Some of the key reasons attributed to these delays include:Healthcare professionals(HCPs)struggling to link symptoms,especially when they span multiple organ systems Extended

6、 waiting times for consultation with specialists The need for more precise testingThe market appears to be an important factor in diagnosis rates.In this white paper,well look at how various market events influence the diagnosis rates of rare diseases,with a specific focus on market competitiveness,