The Global Challenge of Rare Disease Diagnosis A Policy Briefing

www.Shire.com/RareDiagnosis

RARE DISEASES– THE DIAGNOSIS BURDEN

IMPROVING DIAGNOSIS OF RARE DISEASES– A CALL TO ACTION

Governments are well-positioned to facilitate progress

There is a recognized need for collaboration among countries in order to improve the detection, diagnosis and treatment of rare diseases

It is crucial to support the further research that is needed to ensure accurate diagnosis of rare diseases at an early stage

We encourage healthcare institutions to develop criteria on the rare conditions to be screened for at birth, and for governments to harmonize the processes by which new conditions are added to local screening panels

There should be a maintained focus on rare diseases as a health policy priority, and countries must continue adopting National Plans for rare diseases

Shire is leading the ‘Diagnosis Doesn’t Have to be Rare’ initiative which aims to highlight the challenging diagnosis journey some patients with rare diseases often experience, and calls for improvement in the diagnosis pathway

Rare diseases often hide behind common symptoms of other more common illnesses, making the diagnosis extremely challenging and often leading to misdiagnosis 8

Despite progress made in this space, there remains a need to better understand the obstacles patients and caregivers within the rare disease community face in obtaining a correct and timely diagnosis

The pathway to improve diagnosis can only be helped by all stakeholders joining together to find solutions to help ensure accurate diagnosis of rare diseases at an early stage

An accurate diagnosis may be the first step to improving the care for those living with a rare disease, and their families 4,8

Diagnosis Doesn’t Have to be Rare

Approximately 75% of rare diseases affect

children and 30% of rare disease patients die

before the age of 5 6

A rare disease is a life-threatening or chronically debilitating

condition.1 It is defined as rare in Europe when fewer than 5 in

10,000 people are affected, and in the US when fewer than

200,000 people are affected 2

Almost 5% of the world’s population are living with

a rare disease 2

There are approximately

7,000 rare diseases identified 3,4

80% of rare diseases are genetic and some

can be life-threatening 5

The longer it takes to diagnose a rare disease, the more physicians the patient needs to see 4

For people with a rare disease, the mean average

length of time from symptom onset to accurate diagnosis is

approximately 4.8 years 4

40% of rare disease patients

are misdiagnosed at least once 4

People with a rare disease may experience

low quality of life and high levels of disability 9

Misdiagnosis and non-diagnosis can pose hurdles to quality of

life for thousands of rare disease patients 7,8

This difficult journey to diagnosis and care can

increase medical, economic and social

burdens 4,6

Burden of rare

diseases

Barriers to diagnosis

The misdiagnosis

burden

RARE DISEASES– THE DIAGNOSIS BURDEN

IMPROVING DIAGNOSIS OF RARE DISEASES– A CALL TO ACTION

Governments are well-positioned to facilitate progress

There is a recognized need for collaboration among countries in order to improve the detection, diagnosis and treatment of rare diseases

It is crucial to support the further research that is needed to ensure accurate diagnosis of rare diseases at an early stage

We encourage healthcare institutions to develop criteria on the rare conditions to be screened for at birth, and for governments to harmonize the processes by which new conditions are added to local screening panels

There should be a maintained focus on rare diseases as a health policy priority, and countries must continue adopting National Plans for rare diseases

Shire is leading the ‘Diagnosis Doesn’t Have to be Rare’ initiative which aims to highlight the challenging diagnosis journey some patients with rare diseases often experience, and calls for improvement in the diagnosis pathway

Rare diseases often hide behind common symptoms of other more common illnesses, making the diagnosis extremely challenging and often leading to misdiagnosis 8

Despite progress made in this space, there remains a need to better understand the obstacles patients and caregivers within the rare disease community face in obtaining a correct and timely diagnosis

The pathway to improve diagnosis can only be helped by all stakeholders joining together to find solutions to help ensure accurate diagnosis of rare diseases at an early stage

An accurate diagnosis may be the first step to improving the care for those living with a rare disease, and their families 4,8

Diagnosis Doesn’t Have to be Rare

Approximately 75% of rare diseases affect

children and 30% of rare disease patients die

before the age of 5 6

A rare disease is a life-threatening or chronically debilitating

condition.1 It is defined as rare in Europe when fewer than 5 in

10,000 people are affected, and in the US when fewer than

200,000 people are affected 2

Almost 5% of the world’s population are living with

a rare disease 2

There are approximately

7,000 rare diseases identified 3,4

80% of rare diseases are genetic and some

can be life-threatening 5

The longer it takes to diagnose a rare disease, the more physicians the patient needs to see 4

For people with a rare disease, the mean average

length of time from symptom onset to accurate diagnosis is

approximately 4.8 years 4

40% of rare disease patients

are misdiagnosed at least once 4

People with a rare disease may experience

low quality of life and high levels of disability 9

Misdiagnosis and non-diagnosis can pose hurdles to quality of

life for thousands of rare disease patients 7,8

This difficult journey to diagnosis and care can

increase medical, economic and social

burdens 4,6

Burden of rare

diseases

Barriers to diagnosis

The misdiagnosis

burden

RARE DISEASES– THE DIAGNOSIS BURDEN

IMPROVING DIAGNOSIS OF RARE DISEASES– A CALL TO ACTION

Governments are well-positioned to facilitate progress

There is a recognized need for collaboration among countries in order to improve the detection, diagnosis and treatment of rare diseases

It is crucial to support the further research that is needed to ensure accurate diagnosis of rare diseases at an early stage

We encourage healthcare institutions to develop criteria on the rare conditions to be screened for at birth, and for governments to harmonize the processes by which new conditions are added to local screening panels

There should be a maintained focus on rare diseases as a health policy priority, and countries must continue adopting National Plans for rare diseases

Shire is leading the ‘Diagnosis Doesn’t Have to be Rare’ initiative which aims to highlight the challenging diagnosis journey some patients with rare diseases often experience, and calls for improvement in the diagnosis pathway

Rare diseases often hide behind common symptoms of other more common illnesses, making the diagnosis extremely challenging and often leading to misdiagnosis 8

Despite progress made in this space, there remains a need to better understand the obstacles patients and caregivers within the rare disease community face in obtaining a correct and timely diagnosis

The pathway to improve diagnosis can only be helped by all stakeholders joining together to find solutions to help ensure accurate diagnosis of rare diseases at an early stage

An accurate diagnosis may be the first step to improving the care for those living with a rare disease, and their families 4,8

Diagnosis Doesn’t Have to be Rare

Approximately 75% of rare diseases affect

children and 30% of rare disease patients die

before the age of 5 6

A rare disease is a life-threatening or chronically debilitating

condition.1 It is defined as rare in Europe when fewer than 5 in

10,000 people are affected, and in the US when fewer than

200,000 people are affected 2

Almost 5% of the world’s population are living with

a rare disease 2

There are approximately

7,000 rare diseases identified 3,4

80% of rare diseases are genetic and some

can be life-threatening 5

The longer it takes to diagnose a rare disease, the more physicians the patient needs to see 4

For people with a rare disease, the mean average

length of time from symptom onset to accurate diagnosis is

approximately 4.8 years 4

40% of rare disease patients

are misdiagnosed at least once 4

People with a rare disease may experience

low quality of life and high levels of disability 9

Misdiagnosis and non-diagnosis can pose hurdles to quality of

life for thousands of rare disease patients 7,8

This difficult journey to diagnosis and care can

increase medical, economic and social

burdens 4,6

Burden of rare

diseases

Barriers to diagnosis

The misdiagnosis

burden

We are committing to helping raise awareness

of rare diseases, including the diagnosis challenges,

and to implementing initiatives to support an

improved diagnosis journey

We support the efforts of the clinical community in certain countries to evaluate different screening

methodologies to support earlier detection of these devastating

conditions

We support local diagnostic testing

for rare diseases in certain countries, and

offer education for healthcare professionals

on genetic testing

In certain countries we are supporting the

establishment of patient disease

registries to allow a greater understanding

of rare diseases

Shire aims to partner with the rare disease

community throughout 2015 to introduce new

initiatives under the “Diagnosis Doesn’t Have

to be Rare” campaign umbrella directly aimed

at improving the diagnosis journey

What Shire is committing to

We are committing to helping raise awareness

of rare diseases, including the diagnosis challenges,

and to implementing initiatives to support an

improved diagnosis journey

We support the efforts of the clinical community in certain countries to evaluate different screening

methodologies to support earlier detection of these devastating

conditions

We support local diagnostic testing

for rare diseases in certain countries, and

offer education for healthcare professionals

on genetic testing

In certain countries we are supporting the

establishment of patient disease

registries to allow a greater understanding

of rare diseases

Shire aims to partner with the rare disease

community throughout 2015 to introduce new

initiatives under the “Diagnosis Doesn’t Have

to be Rare” campaign umbrella directly aimed

at improving the diagnosis journey

What Shire is committing to

Shire puts patients at the heart of the business and is driven by a common goal: to enable people with life- altering conditions to lead better lives. As a leader in the development and marketing of orphan drugs for rare diseases, Shire delivers the science that offers hope to those with rare conditions. We work in partnership with physicians, patients, caregivers, payers and policymakers worldwide to ensure that patients have access to our innovative therapies and the support they need to lead better lives.

About us

1. European Commission. Useful Information on Rare Diseases from an EU Perspective. Health & Consumer Protection Directorate-General http://ec.europa.eu/health/ph_information/documents/ev20040705_rd05_en.pdf

2. Aronson J. Rare diseases and orphan drugs Br J Clin Pharmacol. 2006; 61(3): 243-4. Available at: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1885017/ 3. Global Genes. Rare diseases: facts and statistics, 2014. Available at: http://globalgenes.org/rare-diseases-facts-statistics/ 4. 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 http://www.journalofraredisorders.com/pub/IssuePDFs/Engel.pdf 5. Bavisetty S, et al. Emergence of pediatric rare diseases. Rare Diseases 2013, volume 1. Available at: http://www.tandfonline.com/doi/full/10.4161/rdis.23579 6. Rare Diseases UK. Key Statistics from the RDUK Report ‘Experiences of Rare Diseases: An Insight from Patients and Families’. Available at: http://raredisease.org.uk/

index.htm7. Shire Rare Disease Impact Report: Insights from patients and the medical community. 2013. Available at: http://www.geneticalliance.org.uk/docs/e-update/rare-disease-

impact-report.pdf 8. EURORDIS. The Voice of 12,000 Patients. Experiences and Expectations of Rare Disease Patients on Diagnosis and Care in Europe. Available at: http://www.eurordis.

org/IMG/pdf/voice_12000_patients/EURORDISCARE_FULLBOOKr.pdf 9. Lim L, Nutt S, Sen A. Experiences of Rare Diseases: An Insight from Patients and Families. December 2010. Available at: http://www.raredisease.org.uk/documents/

RDUK-Family-Report.pdf

References

For more information and updates on our diagnosis campaign initiatives visit: www.Shire.com/RareDiagnosis

INTSP/C-ANPROM /RDBU/15/0003 January 2015