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Shire Global

Improving Diagnosis

Diagnosis CampaignThere are approximately 7,000 identified rare diseases worldwide and almost 5 percent of the world’s population—an estimated 350 million people—are living with a rare condition.1 However, due to the small number of people affected by each individual condition, there is often limited professional knowledge of the signs and symptoms,2 which may lead to diagnosis challenges and misdiagnoses.

Forty percent of rare disease patients are misdiagnosed more than once,2 or diagnosis is delayed for a variety of reasons. Rare diseases often hide behind the symptoms of more common illnesses,3 In addition, diagnosis may depend on whether a physician has seen the rare disease before.2 As a result, it can take on average 4.8 years before a person with a rare disease receives the right diagnosis, with visits to different physicians.2,3

The diagnosis of rare disease may be improved by increasing knowledge and recognition of the conditions,4 use of diagnostic testing to provide confirmation of disease,5 and childhood screening.4

Shire’s commitment to improving diagnosis

Shire is committed to helping raise awareness of rare diseases, including diagnosis challenges, and implementing initiatives to support an improved diagnosis journey for everyone affected by these rare conditions. It’s our responsibility to help establish long-term solutions to improve the diagnosis pathway, including working in partnership with treating physicians, specialists, patient advocacy organizations and countries’ health systems.

Working to improve diagnosis

Diagnosis Doesn’t Have to Be Rare’ initiative

As part of our commitment to improving diagnosis for rare diseases, Shire launched the ‘Diagnosis Doesn’t Have to Be Rare’ initiative on Rare Disease Day 2015. The initiative aims to highlight the challenging diagnosis journey experienced by people with rare diseases, call for improvements in the diagnosis pathway, and support innovative diagnostic solutions.

Diagnostic Testing

Shire supports access to the highest quality diagnostic testing for lysosomal storage disorders (LSDs) in certain countries. This initiative is provided in partnership with Centogene AG, a worldwide leader in the field of diagnostic testing for rare hereditary diseases.

Pedigree Analysis

In partnership with the patient and medical community, Shire initiated a Pedigree Analysis Call to Action aimed at raising awareness among healthcare professionals and people diagnosed with rare diseases of the importance of a family history evaluation. Under the initiative, Shire also offers information for healthcare professionals on genetic testing.

Patient Screening

Shire supports the efforts of the clinical community to evaluate different screening methodologies to support early detection of these devastating conditions.

Patient Registries

Shire supports the establishment of patient disease registries to allow a better understanding of rare diseases and the diagnosis pathway.


Shire believes that knowledge and information sharing are critical to early and improved diagnosis, and play a major role in empowering patients and families living with rare diseases. These resources help to explain some of the challenges of diagnosing rare diseases and highlight the opportunities for the rare disease community to work together to improve the diagnosis journey.

RDD-Journey-Animated-Infographic Rare Disease Diagnosis Journey

View our animated video about the journey for some patients with a rare disease.

diagnosis-pathway-infographic Diagnosis Pathway

View our interactive infographic detailing the many steps in a rare disease diagnosis pathway.

diagnosis-challenges-policy Working in Partnership to Improve Diagnosis

Read more about the challenges to diagnosis and possible solutions to help support improvements in the diagnosis pathway.

diagnosis-challenges-policy-hcp Working in Partnership to Improve Diagnosis

(For healthcare professionals)


  1. Global Genes. Rare diseases: facts and statistics. Available at: Last accessed January 2016.
  2. Engel PA, et al. Physician and patient perceptions regarding physician training in rare diseases: the need for stronger educational initiatives for physicians. Journal of Rare Disorders 2013: Vol. 1, Issue 2. Available at Last accessed January 2016
  3. EURORDIS. The voice of 12,000 patients. Experiences and expectations of rare disease patients on diagnosis and care in Europe. Available at: Last accessed January 2016
  4. Department of Health. The UK Strategy for Rare Diseases 2013. Available at: Last accessed January 2016
  5. NHS. How is genetic testing applied in rare diseases? Available at: Last assessed January 2016.

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