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Visibility and Genetic Recognition in Rare Diseases - Health Care Professionals

Introduction

Thank you for taking the time to complete this survey.

This survey is intended for healthcare professionals, including physicians, nurses, psychologists, allied health professionals, genetic counselors, and researchers.

The aim is to explore how visibility both in physical appearance and genetic recognition, influences diagnosis, treatment, communication, and patient care.

The results will be compared with responses from people living with diseases and conditions and presented during the World Orphan Drug Congress.

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Visibility and Genetic Recognition in Rare Diseases – Healthcare Professionals

About You

1

What is your profession?

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2

How many years have you worked in healthcare?

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3

Do you work with rare diseases?

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4

In which country do you currently work? Please also indicate your region, state, or province. Optional: If you would like, you may also indicate the hospital, healthcare organization, research institute, or company where you work.

Visibility and Genetic Recognition in Rare Diseases – Healthcare Professionals

Visibility 

5

Do you think the visibility of a disease influences how quickly patients receive a diagnosis?

0 - Not at all,
10 - Very much
Not at all
Very much
6

In your experience, are patients with invisible conditions more likely to experience diagnostic delays?

0 - Not at all,
10 - Very much
Not at all
Very much
7

Do you think patients with visible conditions face different social challenges than patients with invisible conditions?

0 - Not at all,
10 - Very much
Not at all
Very much
8

Which group do you believe experiences the greatest challenges?

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Visibility and Genetic Recognition in Rare Diseases – Healthcare Professionals

Genetics

9

Does having a genetically confirmed diagnosis influence treatment decisions?

0 - Not at all,
10 - Very much
Not at all
Very much
10

Does a genetic diagnosis improve access to healthcare?

0 - Not at all,
10 - Very much
Not at all
Very much
11

Does a confirmed genetic diagnosis improve recognition of the patient's condition?

0 - Not at all,
10 - Very much
Not at all
Very much
12

Any other thoughts about the subject

Visibility and Genetic Recognition in Rare Diseases – Healthcare Professionals

Mental Health

13

How often do you discuss mental health with your patients?

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14

Do you think mental health support is sufficiently integrated into care?

0 - Not at all,
10 - Very much
Not at all
Very much
15

How often do you refer patients for psychological support?

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Visibility and Genetic Recognition in Rare Diseases – Healthcare Professionals

Patient experience

16

How often do patients tell you they feel misunderstood because their condition is invisible?

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17

How often do patients with visible conditions tell you they feel defined by their appearance?

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Visibility and Genetic Recognition in Rare Diseases – Healthcare Professionals

Research

18

Do you think research sufficiently addresses the everyday experiences of people living with diseases?

0 - Not at all,
10 - Very much
Not at all
Very much
19

How important is patient involvement in research?

0 - Not at all,
10 - Very much
Not at all
Very much
20

What barriers do you experience when providing care to people living with rare diseases?

21

What could improve care for patients with visible or invisible diseases?

22

If you could change one thing in healthcare tomorrow, what would it be?

Thank you for taking the time to complete this survey.

Your knowledge, experience, and perspective are invaluable to this project. By sharing your insights, you are helping to create a better understanding of how visibility and genetic recognition influence diagnosis, treatment, research, and patient care.

The results of this survey will be combined with the perspectives of patients and presented during my session at the World Orphan Drug Congress. Together, these insights will help foster meaningful discussions and contribute to improving care for people living with rare and chronic conditions.

Thank you for your contribution and for helping shape a more inclusive future in healthcare and research.