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Shire Launches Report that Quantifies the Health, Psycho-social and Economic Impact of Rare Diseases
Date:4/9/2013

K agreed) and more office visits are required to diagnose a rare disease patient (98% in the US, 96% in the UK agreed)
  • In addition, more than half of physicians stated there aren't enough opportunities to network with other physicians who treat rare diseases (54% in the US, 62% in the UK agreed) 
  • From a patient and caregiver perspective, around half of those surveyed stated they received conflicting information from different health care professionals about treatment options (60% in the US, 50% in the UK agreed)
    • In fact, more than half of patients and caregivers stated they needed to provide their healthcare professionals with information on their rare disease (67% in the US, 62% in the UK agreed)
  • As a result of these challenges, on average, it takes 7.6 years in the US and 5.6 years in the UK for a patient with a rare disease to receive a proper diagnosis, based on survey results. Along the way, the average patient visits four primary care doctors, four specialists and receives two to three misdiagnoses
  • The economic impact of diagnosing and managing rare diseases is significant. The journey to diagnosis and beyond comes with a steep price tag for many coping with a rare disease. The long road, which frequently includes numerous tests and physician visits, can become financially overwhelming, particularly for those in the US as compared to the UK 

    • Payor respondents reported several factors contribute to the higher costs of care for rare disease patients compared to more common diseases, including the need for more diagnostic tests (100% in the US, 80% in the UK agreed) and more costly diagnostic tests (100% in the US, 90% in the UK agreed)
    • Payors also found it difficult to make rare disease coverage decisions due to the lack of standards and guidelines. Almost all payors surveye
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