Unmet Needs versus Unmet Medical Needs in Rare Diseases

Carina Schey

Introduction

Rare diseases, often referred to as orphan diseases, affect a small percentage of the population—but collectively, they impact over 300 million people worldwide. While each rare disease affects a relatively small number of individuals, there are over 7,000 known rare diseases, and many are genetic, progressive, and life-limiting.

Despite medical advances, the rare disease community continues to face significant challenges. Two important concepts frame the landscape of this struggle: unmet need and unmet medical need. The term “unmet need” is often used incorrectly. Though they may seem similar, they point to distinct gaps that require targeted action from healthcare systems, regulators, researchers, and industry. In reality, rather than refer to unmet medical needs, the terminology should be shifted to unmet patient needs, especially as what clinicians perceive as being unmet needs may be very different to the patient’s perception.

What is an Unmet Need?

An unmet need refers broadly to the gaps in care, services, or support that patients experience. These may not always be medical in nature but are nonetheless crucial for patient quality of life. In rare diseases, these unmet needs often include:

These unmet needs significantly impact patient outcomes, emotional well-being, and the ability to lead independent, fulfilling lives.

What is an Unmet Medical Need?

An unmet medical need is more specific and refers to situations where no adequate medical products are available for the prevention, diagnosis, or treatment of a condition. In rare diseases, this can include:

The result is a profound therapeutic void for millions of patients—what some call the “last frontier” of modern medicine.

Bridging the Gaps

Understanding and addressing both types of unmet needs is essential. While drug development is critical, it must be part of a holistic approach that considers the social, emotional, and practical aspects of living with a rare condition. In many cases, it also needs to encompass the education sector and ensuring that children with rare conditions have the right support in place in schools. For example, a child with a rare genetic disorder may receive a life-changing gene therapy—but without access to specialized schooling, caregiver support, or mental health resources, their full potential may remain out of reach.

Moving Forward: Collective Responsibility

To tackle these unmet needs, we must foster cross-sector collaboration:

Most importantly, rare disease patients and caregivers must be recognized as experts in their own experience—and given a seat at every decision-making table.

Conclusion

The unmet need and unmet medical need in rare diseases represent a dual challenge—and an urgent call to action. Addressing one without the other will never be enough. True progress requires a patient-centered, multi-dimensional response that delivers not only treatments but also dignity, equity, and hope.

The rare disease community is not asking for miracles—just for a fair chance at a better life.

References

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