Contributor: The Critical Role of Patient Engagement in Patient-Centered Outcomes Research and Health Technology Assessment of Rare Disease Treatments

Introduction: Challenges of Conducting Health Technology Assessment in Rare Diseases

Rare diseases present distinct challenges to health technology assessment (HTA), also known as value assessment. HTA helps determine the value of new health care treatments, such as drugs or medical devices, by evaluating how well the treatment works and its net cost. Decision-makers use this information to help guide treatment decisions and determine how treatments should be covered. However, for rare diseases, traditional HTA methods often fail to capture the outcomes that matter most to patients. Limited patient populations, scarce data, and diverse clinical manifestations make it challenging to assess treatment value through conventional metrics.¹ In this context, patient-centered outcomes research (PCOR) becomes especially critical.

While efforts need to be made to incorporate the patient perspective into HTA, few standardized frameworks exist—particularly for rare diseases. Important factors like the patient journey and time, caregiver journey, broader economic impacts, and long-term disease management are often overlooked.² Bridging this gap requires a paradigm shift: one that places patient (and caregiver) engagement at the heart of both PCOR and HTA processes.

YuanYuan Michelle Cheng | Image credit: Center for Innovation & Value Research

Why Patient Engagement is Essential in Rare Disease HTA

Patients often offer insights beyond clinical data, and caregivers' challenges highlight broader impacts. Lack of patient engagement in rare disease HTA can create gaps in assessing treatment value. Involving patients and caregivers from the start ensures a comprehensive evaluation of treatment value, encompassing real-world perspectives. The Center for Innovation & Value Research has adopted a definition of patient engagement as “the active, meaningful, and collaborative interaction between patients and researchers across all stages of the research process, where research decision-making is guided by patients’ contributions as partners, recognizing their specific experiences, values, and expertise.”³ This approach fosters transparency, trust, and equity, leading to assessments that resonate more deeply with the patient community and their families.

Enhancing Patient-Centered Outcomes Research through Early and Continuous Engagement

Efforts to enhance PCOR underscore the critical importance of early and continuous engagement with patients. However, several challenges hinder effective patient involvement in HTA. For instance, limited resources for HTA agencies to involve patients, concerns about conflicts of interest, and difficulties in identifying representative patient voices can significantly impede engagement efforts. Patients often face barriers such as a lack of understanding of HTA and the decision-making context, and insufficient resources to participate meaningfully.

Despite these challenges, 1 key recommendation is to engage patients from the earliest stages of research and maintain this engagement throughout the process. This "early and continuous patient engagement" principle ensures that the outcomes deemed important by patients remain central to the assessment framework. Patients provide unique insights into the daily challenges of living with rare diseases, which often translate into priorities that differ from those identified through clinical data alone. By integrating these insights into PCOR, we can achieve more patient-centered assessments.

Transforming HTA Methodologies with Patient Input

To effectively involve patients in HTA, various methods can be employed, ranging from patients as co-investigators to participation in focus groups, interviews, and advisory panels. Both qualitative and quantitative engagement methods are valuable. Qualitative approaches, such as interviews, allow patients to share their experiences in their own words, while quantitative methods help translate these experiences into measurable outcomes for HTA models.

There are several approaches to foster early and continuous engagement in HTA, including but not limited to:

1. Involvement Routes:

• Call for written comments and coordinate with patient organizations.
• Implement open calls, establish patient task forces, and create advisory boards.
• Conduct deliberative events and town hall meetings to ensure diverse patient voices are heard.

2. Resource Allocation:

• Dedicate funding for patient interactions and ensure fair compensation for their involvement.
• Update and implement patient-centric evaluation of health technologies in HTA guidelines.

3. Stakeholder Engagement:

• Engage a diverse array of stakeholders, including patients, caregivers, clinical experts, health care providers, payers, and advocacy groups, to develop a comprehensive understanding of patient experiences and needs.

In the context of rare disease HTA, initiatives like these underscore the importance of patient input. By amplifying the patient voice and actively engaging patients and caregivers at every stage of the research process, HTA methodologies can be refined to more accurately capture the complexities of living with a rare disease.

Examples of successful patient engagement in HTA

National Institute for Health and Care Excellence’s (NICE) 2022 Strategic Plan for Patient and Public Involvement offers a clear example of how patient engagement can be embedded across the HTA process. Key advancements include:⁴

• Structured Engagement Channels: NICE developed formal pathways for patient organizations to provide feedback during the early scoping and ongoing review stages of health technology assessments.
• Digital Tools for Broader Access: By expanding the use of online consultation platforms and virtual focus groups, NICE increased accessibility for patients, particularly during the challenges posed by the COVID-19 pandemic.

Additionally, in rare disease HTA, NICE adopted a clearer vision, principles, and routing criteria for treatments for very rare diseases in its Highly Specialised Technologies (HST) Programme, which demonstrates its ongoing efforts to refine health technology evaluations to better reflect patient needs.⁵

While the US system differs in structure and processes, there is much to learn from other HTA agencies. Adapting these patient-centered approaches can enhance how patient voices are integrated into US health technology assessments.

Conclusion

Early and continuous patient engagement is not just a beneficial addition to HTA, it is a necessity. Engaging patients ensures the identification and capture of outcomes that truly matter to those affected, leading to more comprehensive assessments of treatment value. While progress has been made,2 more work remains to be done. By prioritizing patient-centered input—especially for rare diseases, which present unique challenges for HTA—researchers can ensure that HTA frameworks evolve to deliver more inclusive and effective health care solutions.

References

1. Grand TS, Ren S, Hall J, et al. Issues, challenges and opportunities for economic evaluations of orphan drugs in rare diseases: an umbrella review. Pharmacoeconomics. 2024;42:619–631. doi:10.1007/s40273-024-01370-2
2. Chapman R, Kennedy A, Cheng MY. Valuing rare disease treatments in healthcare: real experience, real impact. January 2024. Accessed November 5, 2024. https://valueresearch.org/wp-content/uploads/2024/04/2024-Rare-Disease-Project-Report-Final.pdf
3. Harrington RL, Hanna ML, Oehrlein EM. Defining Patient Engagement in Research: Results of a Systematic Review and Analysis: Report of the ISPOR Patient-Centered Special Interest Group. Value Health. 2020;23:677–688. doi:10.1016/j.jval.2020.01.019
4. Patient and public involvement policy. National Institute for Health and Care Excellence. 2024. Accessed November 5, 2024. https://www.nice.org.uk/about/nice-communities/nice-and-the-public/public-involvement/public-involvement-programme/patient-public-involvement-policy
5. Our methods and processes (health technology evaluation manual). National Institute for Health and Care Excellence. February 1, 2022. Accessed November 5, 2024. https://www.nice.org.uk/about/what-we-do/our-programmes/nice-guidance/nice-technology-appraisal-guidance/changes-to-health-technology-evaluation