From “Ought” to “Is:” Surfacing Values in Patient and Family Advocacy in Rare Diseases


Meghan C. Halley

Publish date

Tag(s): Legacy post

by Meghan C. Halley

Note: The following editorial was recently published in the American Journal of Bioethics, Volume 21, Issue 12 (2021).

In this issue, Lynch and colleagues (2021) discuss lessons learned from the “Operation Warp Speed” response to the COVID-19 pandemic in the United States—both about what to do and what not to do for non-pandemic diseases. In outlining these lessons, the authors provide a cogent and well-reasoned set of recommendations for advocates and policymakers seeking to advance biomedical research in a particular disease area. They specifically caution against policies that prioritize early access to investigational therapies in a manner that might compromise the ability to collect empirical data to confirm safety and efficacy. Indeed, they direct a central point specifically at advocates, stating, in no uncertain terms, “Weakening the science is likely to do more harm than good; advocates should not call for it” (Lynch et al. 2021).

As a normative statement, this assertion is well-reasoned, and most ethicists, policymakers, and scientists are likely to concur, including myself. However, in order for this “ought” to move toward an “is,” we need to understand the individual, institutional, and sociopolitical influences shaping how patients and families advocate, and for what. Understanding why patients and family advocates might choose to argue for policies that weaken the long-term scientific goals of their own cause is essential to working toward solutions. In particular, we need to consider (1) the varying goals and values motivating patient and family advocacy in biomedical research; (2) the lived experiences of patient and family advocates shaping their attitudes toward healthcare and biomedical research institutions; and (3) the sociopolitical dimensions of the current advocacy environment that shape the incentive structures within which advocates do their work.

To do this, I will focus particularly on the context of rare diseases, as these patient groups have been the source of many of the calls for “where is our Operation Warp Speed?” Lynch and colleagues cite. Given that fewer than 10% of the over 7,000 identified rare diseases have an FDA-approved treatment, it is unsurprising that many rare disease patients and families are at the forefront of advocacy for biomedical research (Dunkle, Pines, and Saltonstall 2010; National Center for Advancing Translational Sciences 2021). Unlike more common diseases which may mobilize broad public support (e.g., breast cancer), rare disease advocates are typically patients impacted by a particular rare disease or their family members. These individuals engage in advocacy not only because they care about advancing biomedical research for a particular condition, but also—and, at least for some, primarily—because they are desperate to find answers or options to save their own lives, or the lives of their loved ones.

However, these dual interests of advancing the science and helping current patients can come into direct conflict when advocates are considering which specific policies to advocate for or prioritize. As Lynch herself (and others) have outlined in other work on this topic, there are a range of policy proposals related to experimental therapeutics, some of which prioritize access now—and the potential for direct benefits to current patients—at the expense of long-term scientific goals (Joffe and Lynch 2018; Lynch and Bateman-House 2020). In this scenario, patients and families must decide between two conflicting priorities: potential long-term future research gains—which are unlikely to benefit current patients—or potential short-term benefits for themselves or their loved one.

Given the moral complexity of such a choice, it is perhaps unsurprising that it is at the core of longstanding tensions in many patient organizations. A recently published history of the Cystic Fibrosis Foundation—perhaps one of the most successful patient-driven healthcare foundations of all time—describes how the tension between helping current patients and prioritizing research caused fractures within the organization at multiple points in the foundation’s journey (Trivedi 2020). Engaging patient and family advocates to move toward the recommendations from Lynch and colleagues will first require recognizing the goals and values underlying patient and family advocacy efforts, and the moral complexity inherent in the decisions they may need to make in order to adhere to these recommendations.

The lived experiences of rare disease patients and families also may shape how they perceive the potential benefits of early access compared to those that might result from scientific progress. Put plainly, asking patients and families to “prioritize the science” requires trust in our healthcare and associated biomedical research institutions. However, rare disease patients and families often find their way to advocacy specifically because the medical system has failed to meet their needs. Surveys of rare disease patients and families suggest that they experience significant challenges in navigating the healthcare system, including extended diagnostic odysseys, difficulties coordinating among specialists, and lack of knowledgeable providers (Shire 2013). To add insult to injury, in the early days of the pandemic, many rare disease patients and families reported feeling abandoned by their providers and the healthcare system, unable to access essential services and care they needed (Halley et al. 2021). For many of these patients and families, it may be difficult to believe that a benefit to their cause in the future will come from the same structures and institutions by which they have already felt betrayed.

While individual goals and values, as well as their lived experiences with healthcare, may drive patient and family advocates to prioritize policies with more immediate benefits, historical trends and dominant cultural narratives in advocacy further reinforce these choices. The last 30 years have seen a major shift in the landscape of health-related advocacy in the United States. An explosion of disease-specific advocacy organizations has driven the advocacy landscape away from a common goal—increasing the overall appropriation for biomedical research—to a competitive, zero-sum game in which more funding for one disease results in less funding for others (Cook-Deegan 2006). A parallel trend has been the increasing focus on patients’ stories in advocacy, elevating the value ascribed to these stories and shifting the dominant narrative surrounding the goals of biomedical research to one in which funding is treated as a benefit given to patients with a particular disease, as opposed to the science itself (Best 2012).

As Lynch and colleagues rightly point out, in the current advocacy landscape, “disease groups seeking exceptional [Operation Warp Speed]-type approaches must do more than demonstrate their need, they must demonstrate that their need exceeds that of others.” However, many patient groups—and particularly rare disease groups—do not have reliable empirical data on prevalence, incidence, or outcomes for their disease. The United States lacks even a program of research focused on the epidemiology of rare diseases (Groft and de la Paz 2010). In a competitive funding environment, therefore, many disease groups have few evidence-based tools other than compelling personal stories at their disposal. Patients and family members intentionally focus on storytelling with an explicit goal of evoking a “duty to rescue” from policymakers, with documented success (Largent and Pearson 2012). Given the limited empirical arguments patient and family groups may have, as well as competition for scarce research resources, this approach has its own logic. However, it also reinforces the notion that the patients themselves are the intended beneficiaries of medical research and its outcomes, which may influence how patient and family advocates approach policy issues around early access to investigational products.

In conclusion, while Lynch and colleagues provide an excellent policy roadmap, in order for these recommendations to become reality, we first must understand the ways in which individual goals and values, previous experiences with the healthcare system, and broader historical trends and cultural narratives may be shaping advocates’ current choices. In communicating these recommendations to patient and family advocates, the tone and content of these discussions must recognize the complex moral choices advocates are being asked to make. As an example of how not to do so, Andreae and colleagues’ comment that the fear and despair of a serious diagnosis may “impair the thinking of patients.” This language is unnecessarily dismissive of the very real physical and moral distress of chronically ill patients and their families involved in advocacy (Andreae et al. 2021). Bringing patients and families to the table as partners in moving these recommendations forward will require respectful and open dialogue, a point that has been noted by others in response to target articles in AJOB (Tabor 2020).

Further, we also must acknowledge and validate the reasons patients and families may have difficulty believing in the promise of future benefit. To this end, the commentary by Kawam and colleagues offers a path for physicians to provide solutions and support to out-of-options patients, as opposed to the dismissive disdain they often encounter (Kawam, Tilburt, and Master 2021). In addition, the commentary by Grady highlights the importance of clear communication with and education of the public about the goals and methods of biomedical research, which is perhaps even more critical for patient and family advocates (Grady 2021).

The current relationships between advocacy and the allocation of biomedical research resources requires critical examination for multiple reasons, including its tendency to reinforce existing social inequalities, its confounding of the duties of clinician researchers to patients and research participants, and the disingenuous premise it perpetuates for patients and families—that they can and should be able to benefit from unfinished science. Although there are certainly many patient and family advocates dedicated to advancing the science with no expectation of personal gain, the current sociopolitical influences shaping the advocacy environment may serve to reinforce alternative narratives.

In order to move toward a balanced approach to advocacy as proposed by Lynch and colleagues, we must recognize and be prepared to engage with patients and families to address the individual, institutional, and sociopolitical forces shaping the actions and priorities of advocates for biomedical research. Bringing these issues to the surface is an essential first step in moving from Lynch and colleagues’ “ought” to a reality that “is.”


Research reported in this manuscript was supported by the National Human Genome Research Institute of the National Institutes of Health under award number K01HG011341. The content is solely the responsibility of the author and does not necessarily represent the official views of the National Institutes of Health.

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