Patient-Centred Assessments of Rare Disease Treatments
“A promising and emerging trend within the field of HTAs is the systematic incorporation of patient and family feedback.”
Ensuring that all healthcare treatments are valuable for patients is vitally important, especially in a healthcare environment where limited resources pose significant challenges. For publicly funded systems, this includes which drugs are approved (and subsidized) and which treatments a provincial healthcare plan, like the Ontario Health Insurance Plan (OHIP), is willing to cover. One approach to assessing the cost-effectiveness of treatments is the health technology assessment (HTA). HTAs do not all follow the same methods, but they all have the same goal: to inform policies surrounding which health technologies to adopt and fund.1 In addition, HTAs are supposed to compile all available evidence regarding the efficacy of a treatment and compare this evidence to the current standard of care.2 The current standard of care may be a single drug, a combination of drugs–and sometimes, the standard of care for a rare disease may be no treatment at all.2 When it comes to rare diseases, the evidence that HTAs rely on can often be hard to come by. This is due to many intricacies, such as a small patient population and lack of research, that mark rare diseases. This uncertainty creates challenges throughout the healthcare system when deciding upon which therapies will provide the most benefit to patients. A promising and emerging trend within the field of HTAs is the systematic incorporation of patient and family feedback. By listening to patients’ values and priorities, HTA producers can fill in some gaps regarding cost-effectiveness, and provide insight into how policies are shaped to those who allocate healthcare resources.
Historically, rare diseases and more prevalent conditions have had to go through similar HTA processes.3 This scientifically rigorous process can be very effective for common conditions, but it creates significant uncertainty for rare disease therapies due to a lack of knowledge regarding disease mechanism; rare diseases receive far less research attention than common conditions, so we know far less about how to measure disease progression.4 For some rare diseases, there is uncertainty surrounding which biomarkers are important and how changes in these markers reflect the effectiveness of a given therapy. Furthermore, there is significant variability among patients who have the same rare disease—making the elucidation of clinically significant outcomes difficult.
The lack of knowledge surrounding the clinical features of rare diseases makes the assessment of therapies difficult. Therefore, HTAs must provide more than just clinical and economic effectiveness evidence to be valuable. When an HTA cannot provide a clear evidence-based recommendation to policymakers, change cannot occur, and new therapies may not become available to patients.
To compensate for the scarcity of reliable evidence for certain rare diseases, some HTA producers have begun to acknowledge and incorporate the values and experiences of patients in their assessments.5,6 This added source of evidence is valuable because it can provide greater clarity regarding the benefits and consequences of a new therapy. But how exactly can patients’ experiences and perspectives be incorporated in a way that generates new evidence?
To begin, it starts by taking the time to listen to patients when considering relevant clinical outcomes.5 Given the uncertainty surrounding many rare diseases, it can be difficult to discern what symptoms are most important. By listening to patients, it is possible to gain perspective into what life is like with a rare disease, and important symptoms can be identified. Researchers can focus on the outcomes most important to patients and evaluate the clinical effectiveness in a manner that prioritizes improving overall quality of life. When conducting an HTA, having a clear vision of the clinical outcomes that are important to patients helps reach a stronger conclusion regarding the value of a new therapy. Therefore, policymakers become equipped with stronger evidence to inform their decisions to adopt and fund new or repurposed therapies.
“In this context, patients—and their families—are the experts on their condition and thus have valuable insights into living with a rare disease.”
Another area where patient feedback is valuable is the overall social and quality of life impact of a new therapy. In this context, patients—and their families—are the experts on their condition and thus have valuable insights into living with a rare disease. When patients report how their overall quality of life and functionality may have changed in response to a new treatment, certain key themes can arise. These themes can tell a very powerful story about the difficulties of living with a rare disease, and where effective interventions should be targeted. For example, patients may feel a significant improvement in their symptoms when they receive a new medication for their condition, but if the method of administration is too burdensome and patients are unable to follow the treatment regimen, then the overall effectiveness of the drug is reduced.5 Incorporating families and caregivers into the HTA is also important given that many rare diseases appear in children, where the disease becomes an important part of family life.5 Therefore, new therapies that improve the independence of a patient and reduce the burden on families, can be prioritized when policymakers look to an HTA for evidence-based recommendations.
In recent years, numerous jurisdictions have begun incorporating patient perspectives in their HTAs. Denmark is an early adopter of the patient-focused HTA model and provides a useful case study. Upwards of 90% of Danish HTAs produced between 1999 and 2010 incorporated patient experiences to some extent.6 By doing so, the Danish HTAs were able to incorporate patient aspects, such as the ability for a treatment to confer greater independence, into their policy recommendations. Moreover, patient perspectives helped to shed light on how therapy outcomes vary between ethnic, cultural, and age groups.7 Ontario has also begun to incorporate patient experiences into most HTAs.8 Their approach to patient involvement includes conducting a literature review of published research on patient experiences, as well as primary research through surveying and interviewing patients and representatives from patient advocacy groups.2 In the United States, the Netherlands, and several other nations, HTAs are beginning to incorporate patient involvement; this has resulted in more options for rare disease patients and a greater understanding that patients respond to treatments in different ways.3 The increased frequency of patient involvement in HTAs is a promising development and should continue to provide valuable evidence to policymakers partake in the process of approving and funding treatment options.
Finally, is it worth noting that the addition of patient testimony and experience into HTAs does not detract from their scientific rigour. Current guidelines and recommendations state that patient experiences need to be collected in a systematic manner; evidence cannot be based on anecdotes.2,5 This means that biases and emotion cannot sway the evidence. To accomplish this, HTAs incorporate both qualitative and quantitative methods of gathering patient feedback. These methods include surveys, interviews, and focus groups for patients, their families, and their caregivers.5
Acknowledging that patients and their families are experts on their rare disease is the first step to incorporating their lived experiences into policy. HTAs must systematically consider the value of patients’ perspectives, and policymakers must demand that all HTAs follow this protocol if optimal patient outcomes are to be achieved. Patients possess valuable insights into the day-to-day reality of living with a rare disease; this experience can fill in the gaps where clinical evidence is limited and supplements existing methods of assessment. Given that health systems worldwide are beginning to acknowledge and incorporate patient and family experiences into their policy decisions, we can hope that this advance will lead to better outcomes for rare disease patients and their families.
Works Cited:
1. Committee E-AS. Health technology assessment. Int J Technol Assess Health Care. 2009;25(SUPPL.S1):10. doi:10.1017/S0266462309090345
2. Health Quality Ontario. Health Technology Assessments: Methods and Process Guide. Toronto; 2017. Available from http://www.hqontario.ca/Portals/0/documents/evidence/reports/hta-methods-and-process-guide-en.pdf
3. Facey K, Granados A, Guyatt G, et al. GENERATING HEALTH TECHNOLOGY ASSESSMENT EVIDENCE FOR RARE DISEASES Evidence Based Health Policy Consultant, Scotland Genetic Alliance UK Associate Professor of Health Services Research, Mayo Clinic Canadian Organization for Rare Disorders. Int J Technol Assess Health Care. 2014;30(4):416-422. doi:10.1017/S0266462314000464.
4. Vickers PJ. Challenges and opportunities in the treatment of rare diseases. Drug Discovery World. 2013. Available from http://www.ddw-online.com/therapeutics/p211490-challenges-and-opportunities-in-the-treatment-of-rare-diseases-spring-13.html
5. Facey K. Patient involvement in HTA: What added value? Pharm Policy Law. 2011;13(3,4):245-251. Available from https://content.iospress.com/articles/pharmaceuticals-policy-and-law/ppl00329
6. Hansen HP, Lee A. Patient aspects and involvement in HTA: An academic perspective. Pharm Policy Law. 2011;13(3-4):123-128. doi:10.3233/PPL-2011-0319.
7. Hansen HP, Lee A, Balslev Van Randwijk C. Patient aspects: A review of fifty-eight Danish HTA reports. Int J Technol Assess Health Care. 2011;27(4):330-336. doi:10.1017/S0266462311000535.
8. Health Quality Ontario. Public Engagement for HTA at HQO—Final Report from the OHTAC Public Engagement Suggested Citation About Health Quality Ontario. Toronto; 2015. http://www.hqontario.ca/evidence/publications-and-ohtac-recommendations/other-reports/special-reports
Cite This Article:
Sharma K, Chan G., Lewis K., Ho J. Patient-Centred Assessments of Rare Disease Treatments. Illustrated by Montakhaby S. Rare Disease Review. February 2020.
DOI:10.13140/RG.2.2.34249.08808.
