https://doi.org/10.37815/rte.v37n1.1282

Original articles

Treating rare diseases with justice:
Implications of a human rights-based approach

Tratamiento de
las enfermedades raras con justicia: Implicaciones de un enfoque basado en
derechos humanos

Stéphanie Dagron1 https://orcid.org/0000-0001-7075-4447

1Faculty of Law, Faculty of Medicine, Global Studies Institute,
University of Geneva, Geneva,
Switzerland

[email-masked]

Sent:       2025/02/10

Accepted:       2025/06/03

Published:       2025/06/30

Abstract

The importance of health for social justice
has increased since the end of the 20th century, particularly following the
recognition in the 1995 Copenhagen Declaration that "people are entitled
to a healthy and productive life in harmony with the environment."
However, a majority of people worldwide still do not enjoy good health.
Numerous efforts have been made by the international community to address this
situation in line with the principles of equity and social justice. The agenda
2030 serves as a remarkable example of these efforts, positioning health at the
centre of the program, acknowledging the existence of social determinants of
health, and affirming the necessity to tackle the causes of health inequities
and attend to the needs of disadvantaged groups. Individuals with rare diseases
face specific risks and challenges primarily due to unmet health needs stemming
from a lack of research and development of suitable medical technologies. In
this article, we explore the reasons explaining the injustices faced by these
patients, as well as ways in which a human rights-based approach to people with
rare diseases can provide arguments in favour of
States' action. By considering the right to science as a complementary right to
the right to health, we argue that States must promote the science for treating
rare diseases and render applications of science accessible and affordable,
thereby contributing to the realisation of a just and
equitable society.

Summary: Introduction, Methodology: analysis approach, Findings and Discussion, Conclusions.

How to cite: Dagron, S. (2025). Treating rare diseases with
justice: Implications of a human rights-based approach. Revista
Tecnológica - Espol, 37(1), 104-120.

https://rte.espol.edu.ec/index.php/tecnologica/article/view/1282

Keywords: Access to
health products, health equity, right to health, right to science, social
justice.

Resumen

La importancia de la salud para la
justicia social ha aumentado desde finales del siglo XX, en particular tras la
Declaración de Copenhague de 1995: “las personas tienen derecho a una vida sana
y productiva en armonía con el medio ambiente”. La mayoría de las personas en
el mundo aún no gozan de buena salud. La comunidad internacional ha realizado
esfuerzos para abordar esta situación, según los principios de equidad y
justicia social. La Agenda 2030 constituye un ejemplo de estos esfuerzos, al
situar la salud en el centro del programa, reconocer la existencia de los
determinantes sociales de la salud, afirmar la necesidad de abordar las causas
de las inequidades en salud y atender las necesidades de los grupos desfavorecidos.
Las personas con enfermedades raras enfrentan riesgos y desafíos específicos,
principalmente debido a las necesidades de salud insatisfechas derivadas de la
falta de investigación y desarrollo de tecnologías médicas adecuadas. En este
artículo, se exploran las razones que explican las injusticias a las que se
enfrentan estos pacientes, así como las maneras en que un enfoque hacia las
personas con enfermedades raras basado en los derechos humanos puede
proporcionar argumentos a favor de que los Estados actúen. Al considerar a la
ciencia como un derecho complementario del derecho a la salud, se argumenta que
los estados deben promover el progreso científico para tratar las enfermedades
raras y hacer que las aplicaciones de la ciencia sean accesibles y asequibles,
contribuyendo así a la creación de una sociedad justa y equitativa.

Palabras
clave: Acceso a productos sanitarios, equidad en salud,
derecho a la salud, derecho a la ciencia, justicia social.

Introduction

Rare
diseases are "life-threatening or chronically debilitating diseases"
(Council Recommendation, 2009, para. 1), resulting in high mortality rates and
socioeconomic inequalities (Halley et al., 2023). Historically, the challenges
faced by both the patients living with them and their families have rarely been
viewed through the lens of social justice. This is surprising, considering the
significant impact of such diseases on patients' quality of life and social
well-being, as reported by patients themselves (Buckle, 2024), and the fact
that the needs of these patients are largely ignored in almost all national
health systems. Traditionally, indeed, health systems have prioritised health
for all through the development of services and goods designed to address
"the main health problems in the community" (Declaration of Alma Ata,
1978). Rare diseases, however, do not feature as one of a community's main
health challenges. They are first characterised by a very low prevalence at a
country level. In the United States of America (US) and Japan, for example, a
rare disease is one that does not affect more than 200,000 (around 6 per
10,000) (Rare Disease Act, 2002) or 50,000 (around 4 per 10,000) (Japan
Pharmaceutical Manufacturers Association, 2020) of the total population, respectively;
in Europe, a disease is considered rare when it affects no more than five
persons per 10,000 people (Regulation (EC) No 141/2000, 1999). Secondly, rare
diseases are characterised by a high level of complexity. Most rare diseases
are genetically related, but others, such as rare cancers, rare immune-related
diseases, and rare poisonings, can be a result of "environmental exposure
during pregnancy or later in life" (EESC, 2009, para. 3.1.4), including
exposure to hazards in the workplace (Charbotel et
al., 2014).

Treating rare diseases with justice means first acknowledging the
particularities of the individuals concerned and, secondly, identifying the
primary challenges they face and devising ways to address those challenges. The
United Nations General Agency (UNGA) in recent years has followed a social
justice-based approach for patients with rare diseases, acknowledging the high
number of patients globally – indeed, a recent estimation showed that 300
million persons out of a total population of 8 billion are affected by a rare
disease (DESA, 2022b), of which more than half are children. It has also
identified the challenges they face in their lives and developed a strategy
grounded in human rights and the principle of social justice (UNGA, 2021).

Its first
Resolution on rare diseases, adopted in 2021, is firmly rooted in the main
international human rights instruments such as the Universal Declaration of
Human Rights and the International Covenant on Economic, Social and Cultural
Rights (ICESCR), and recognises "the fundamental importance of equity,
social justice and social protection mechanisms" (UNGA, 2021). It also
acknowledges the specific social and health challenges that affect the quality
of life and social well-being of these individuals across various domains,
"including but not limited to health, education, employment, and
leisure" (UNGA, 2021).

To tackle
these challenges, the UNGA proposes a roadmap for States and the international
community, grounded in both human rights and the foundational commitment made
by all States in 2015 to pursue sustainable development and prioritise those
furthest behind. The right to the highest attainable standard of physical and
mental health (hereafter referred to as the right to health), the right to an
adequate standard of living, and the right to education – especially for
children – are explicitly referenced by the General Assembly (UNGA, 2021).
Conversely, the right to access, participate in, and benefit from science
(hereafter referred to as the right to science), which is also guaranteed by
the ICESCR, is not mentioned.

The reading
of this Resolution allows us to recognise the importance of access to necessary
healthcare services (including products) as a central social determinant of
health for people living with a rare disease. This is rather singular
concerning the results of public health research in the 21st
century, highlighting the fact that, although universal access to adequate and
culturally appropriate healthcare services is a source of overall health gains,
properly addressing health inequities implies placing more emphasis on
addressing social inequalities (Bueno de Mesquita & Forman, 2023). The
importance of health care for this group is linked to the complexity of the
health-related challenges that are particularly intricate in the case of rare
diseases.

However, a
number of obstacles, often interrelated, hinder access to healthcare for
patients living with a rare disease. The first of these concerns weaknesses in
the essential constitutive elements of the health system in the patient's
country of origin, including a shortage of specialised healthcare professionals
and a lack of information and awareness about rare diseases among those
healthcare professionals who are available (Domaradzi
& Walkowiak, 2021); financial barriers for accessing goods and services,
including long-term care (ILO, 2021); finally, the absence of the requisite
proper diagnostic tools and medical treatment options, as shown by analyses
revealing that diagnostic tools and special medicines are only available for 5%
of rare diseases (EU Commission, 2020). Second, and on a more structural basis,
access to healthcare is impeded by the lack of scientific research, which is,
in turn, having an impact on the training of specialised healthcare
professionals, on the very existence of suitable treatments for the numerous
rare diseases already identified (between 5,000 and 7,000), and, finally, on
decisions for the coverage of existing treatment costs (Dagron,
2011a; Dagron, 2011b).

Concerning
this last point, access to treatment and healthcare services is generally
dependent on scientific evidence as the basis for financial allowance
decisions. "Orphan drugs" – or drugs developed for patients with rare
diseases – are generally very expensive, and access to them may be impossible
for patients in countries without appropriate healthcare coverage. In countries
where the costs of at least basic healthcare services and medicines are
partially or completely covered by the national healthcare system or health
insurance system, access may also be difficult, as reimbursement decisions for
medicines are typically based on cost-effectiveness considerations informed by
scientific evidence. This is the case of Switzerland, where the mandatory health
insurance system reimburses the cost of medicinal products included on a list
of pharmaceutical specialities that is constituted based on scientific proof of
their effectiveness, therapeutic value, and economic character (Swiss Federal
Health Insurance Act, 1994). In some exceptional cases, the proof of a
"possibility of improvement" instead of the proof of a "high
therapeutic benefit" might be sufficient to allow for coverage (Ordinance
on Health Insurance, 1995).

Methodology:
analysis approach

Although a
full exploration of all challenges encountered by patients suffering from a
rare disease and their families – including but not limited to health–  would be essential to allow for a complete
understanding of their social, economic, or psychological causes, this article
will focus solely on the healthcare-related challenges and the main human
rights arguments. In the first part, we will explore the limitations of the
approaches and strategies adopted so far to address the health needs of people
with rare diseases (Part 1). We will then propose an analysis of recent changes
at the global level in favour of health equity and justice and analyse the
complementarity of specific human rights as a solid basis for patients'
requests to their governments concerning the improvement of accessibility to
and affordability of innovative tools and treatments (Part 2).

Findings and
Discussion

Part 1 - Strategies
for rare diseases: existing barriers to health equity

Since the
end of the 20th century, only a few States or regions that host
leading research-intensive biopharmaceutical companies have addressed rare
diseases and the related challenges patients face in accessing healthcare
services. More recently, the international community has also paid attention to
this issue. The analysis of these efforts reveals that while States are
generally becoming more aware of the necessity to aim for the realisation of
health equity and justice based on a human rights-based approach to public
health issues, the fight against rare diseases has not been linked with such an
approach for very specific reasons.

Strategies
for rare diseases: the traditionally limited influence of human rights

At national
and regional levels, States' interest in combating rare diseases has taken the
form of legislative instruments primarily aimed at encouraging the
pharmaceutical industries to engage in Research and Development (R&D) for
rare diseases. The first legislative act of this kind was the Orphan Drug Act
(ODA), adopted by the US in 1983 (Orphan Drug Act, 1983), followed by a
revision of Japan's Pharmaceutical Affairs Law in 1993, introducing provisions
on the promotion of R&D and priority reviews for orphan drugs (Japan
Pharmaceutical Manufacturers Association, 2020), and by the European Union (EU)
in 1999, with the Regulation 141/2000 on orphan medicinal products (Regulation
(EC) No 141/2000, 1999).

These acts
contain similar incentives, including a reduction in fees payable to regulatory
authorities for marketing authorisations, market exclusivity (at least for a
few years), grants for research promotion, tax reductions, or special
procedures for marketing authorisations (e.g., priority reviews for orphan
drugs). For example, the US law (Caetano et al., 2021; Fagnan et al., 2014)
provides seven years of market exclusivity for a drug designated as an orphan
drug (Orphan Drug Act, 1983, § 527(a)(2)), grants and tax credits of up to 50%
for R&D expenses, and a waiver on user fees when applying to the Food and
Drug Administration (FDA) (Orphan Drug Act, 1983, § 4(a)). The EU regulation
provides a special contribution by the European Community, which allows
partially or entirely waived fees for companies seeking to place an orphan drug
on the market (Regulation (EC) No 141/2000, 1999). It also grants market
exclusivity for 10 years to orphan drugs that have received marketing
authorisation (Regulation (EC) No 141/2000, 1999). This market exclusivity
effectively prohibits the Community and EU Member States from accepting other
applications for marketing authorisation for the same therapeutic purpose
(Regulation (EC) No 141/2000, 1999). Furthermore, targeted grants can also be
allocated to support research and development (Regulation (EC) No 141/2000,
1999).

These laws
have been supplemented by other instruments that address the challenges of
conducting research in the context of rare diseases, particularly in cases
involving limited numbers of adults and underage patients, by introducing
procedures to facilitate the marketing of these specific drugs (Gupta et al.,
2016). For instance, the EU introduced accelerated or conditional approval
pathways allowing companies to obtain marketing authorisation based on
simplified requirements for the quality, safety, and efficacy of these products
(Commission Regulation (EC) 507/2006, 2006).

State and
regional authorities have historically exercised caution in avoiding references
to obligations arising from human rights, whether linked to the right to health
or the right to science, as a justification for adopting the aforementioned
legislation. While the US Act invokes a "public interest" (Orphan
Drug Act, 1983, § 1(6)), the European regulation refers to the principle of
equity and considers that "patients suffering from rare conditions should
be entitled to the same quality of treatment as other patients"
(Regulation (EC) No 141/2000, 1999, at op 2). This approach mirrors the
traditional stance of the international community in the field of public health
during the latter half of the 20th century and the early 21st century.
Interventions by the UNGA in public health have traditionally been scarce up to
the present day (Dagron, 2019).

However,
the UNGA did intervene on an exceptional basis starting in 2000 and 2001, by
including health issues in the Millennium Declaration (UNGA, 2000) and
addressing the Acquired Immune Deficiency Syndrome (AIDS) epidemic caused by
the Human Immunodeficiency Virus (HIV) (UN, 2001; ECOSOC, 2009). The UNGA has
since focused its attention on health problems such as malaria (UNGA, 2001),
sickle-cell anaemia (UNGA, 2008), tuberculosis (TB) (UNGA, 2023),
non-communicable diseases (NCDs) (UNGA, 2018), rare diseases (UNGA, 2021), and
other more general issues, such as global health as a foreign policy matter
(UNGA, 2008), health as a central target for the realisation of the 2030 Agenda
for Sustainable Development (UNGA, 2015) or
universal health coverage (UHC) as an essential instrument for a healthier
world for all (UNGA, 2019; UNGA, 2023b).

Except for
HIV, only the more recent resolutions on TB, NCDs and UHC expressly frame the
health issues at stake as human rights concerns. They also encourage States to
adopt a strategy that relies on a human rights-based approach (HRBA) (London,
2008; Bustreo & Doebbler, 2020). The more recent
Resolution on TB interestingly recognises the importance of the right to health
in association with the right to science as essential human rights to be
respected and promoted in this field (UNGA, 2023a).

Traditional
barriers to the implementation of an HRBA for rare diseases

There are
multiple reasons behind the absence of express references to human rights in
general and the rights to health and science, more specifically, in
international strategies and national and regional legislative acts concerning
rare diseases. The first reason is linked to the State's capacity to implement
the numerous obligations related to both. Indeed, it should be understood that
an obligation to promote these rights does not lead to the same consequences
for all States; the existing socioeconomic differences between them render
their promotion arguably a controversial goal since pharmaceutical R&D
capacities are still scarce in some parts of the world (Vieira et al., 2023;
Khan, 2021). This is even more true regarding the right to science, as
underlined in 2011 by Chapman (Chapman, 2009). She considered that "poor
countries and many middle-income countries lack the capacity to conduct
scientific and technological research, to translate findings into useful
applications, to evaluate and regulate their potentially harmful effects, to
distribute them widely, and to make them affordable and accessible across
geographic and populations boundaries" (Chapman, 2009, p. 31). The reality
today is that only some countries host large R&D-based pharmaceutical
companies (Schuhmacher et al., 2021).

This might
change in the future, following the example of the successful development of
capacities to produce the COVID-19 vaccine in South Africa, which resulted from
global efforts to develop R&D in various regions of the world (Paremoer & Pollock, 2022). For the time being, however,
only a few countries have the necessary capacities to conduct research for rare
diseases and develop pharmaceutical products. Moreover, these capacities are
protected through the global framework applicable to the protection of
intellectual property rights, which has a significant impact on the
availability and accessibility of all medicines (Hestermeyer,
2007). The complexity of the relationships between intellectual property
regimes, human rights and the right to science, in particular, has been
deconstructed by the Committee on Economic, Social and Cultural Rights (CESCR,
2020) as well as in recent literature (Yu, 2022; Plomer, 2021).

More
importantly, a central barrier to the use of human rights arguments in favour
of people with rare diseases and their specific healthcare needs is linked to
the interpretations given in 2000 (CESCR, 2000) and 2020 (CESCR, 2020) to the
rights to health and science by the CESCR, as well as by the Committee on the
Rights of the Child (CRC) in charge of the implementation of the Convention on
the Rights of the Child and of the right to health guaranteed in art. 24 (CRC,
2013).

The rights to health and science are intrinsically linked. It was only
relatively recently that the right to science was developed (Mitchell, 2021) and its content concretely
formalised (CESCR, 2020), while its implications in the context of health
remain the subject of ongoing discussions and research (Donders,
2011; Chapman, 2009; Knoppers, 2024). Regarding its content, it is
necessary to understand that this right may be interpreted as offering limited
utility in the context of rare diseases, at least when considering the core
obligations identified in the literature and the CESCR (CESCR, 2020). Indeed,
the right to science is neither unlimited nor absolute (Donders, 2011; CESCR,
2020). This is particularly true in the field of health. There is indeed no
general obligation for States to utilise all their resources to support every
form of health-related research or to make all medical products and
technologies available and accessible to address every health need under this
right. On the contrary, and in line with the CESCR's interpretation, States
must make choices and focus on priority healthcare needs, thereby prioritising
prevalent diseases, those more commonly found within the population in terms of
total number of cases. According to the CESCR, States must make sure that they
use all available resources to "ensure access to those applications of
scientific progress that are critical to the enjoyment of the right to
health" (CESCR, 2020, para. 52). They also have to "ensure that in the
allocation of public resources, priority is given to research in areas where
there is the greatest need for scientific progress in health" (CESCR,
2020, para. 52).

The objective of fulfilling the priority healthcare needs of the
population, which by definition excludes the specific needs of patients with
(non-prevalent) rare disease, also clearly emerges from the interpretation
given to the right to health by both the CESCR (Donders, 2011) and the CRC.

Under the
CESCR in GC 14, the right enshrined in Art. 12.2 (d) ICESCR to health
facilities, goods and services is to be understood as a right to equal and
timely access to "appropriate treatment of prevalent diseases and
illnesses" (CESCR, 2000, para. 17). Consequently, the "critical
elements" for the enjoyment of the right to health are guided by this
central objective. This is evident in how health technologies are identified:
the Committee requires States to ensure the provision of the so-called
"essential drugs" (CESCR, 2000, para. 17), defined by the WHO Action
Programme on Essential Medicines as "those that satisfy the priority
healthcare needs of a population (…) selected with due regard to disease
prevalence and public health relevance, evidence of efficacy and safety and
comparative cost-effectiveness" (WHO, 2021). This same rationale applies
to the State's core obligations resulting from the right to health, which are
related to the population's priority needs. For instance, the Committee
explicitly states the obligation "to provide essential drugs" (CESCR,
2000, para. 43 (d)), "to adopt and implement a national public health
strategy and plan of action, on the basis of epidemiological evidence,
addressing the health concerns of the whole population" (CESCR, 2000,
para. 43 (f)), "to provide immunisation against the major infectious
diseases occurring in the community" (CESCR, 2000, para. 43 (b)), and
"to take measures to prevent, treat and control epidemic and endemic
diseases" (CESCR, 2000, para. 43 (c)).

The CRC, in
its GC 15, adopts the same interpretation of States' obligations in relation to
the right to health of the child, as guaranteed by Art. 24 of the Convention on
the Rights of the Child (CRC, 2013). The CRC proposes a list of appropriate
measures for the full implementation of children's right to health,
specifically addressing prevalent health issues.  The CRC, art. 24, paragraph 2 requires States
to "put in place a process for identifying and addressing (…) issues
relevant to children's right to health" (CRC, 2013, para. 32). States are
therefore asked to conduct "an in-depth analysis of the current situation
in terms of priority health problems and responses" and identify and
implement "evidence-based interventions and policies that respond to key
determinants and health problems" (CRC, 2013, para. 32).

Moreover,
this approach frames the obligation to "take appropriate measures (…) to
diminish infant and child mortality" enshrined in Art. 24, paragraph 2
(a), as an obligation to pay particular attention to specific causes of
mortality for children under five, such as pneumonia, diarrhoeal disease and
malaria (CRC, 2013, paras. 33-35). Similarly, the obligation "to ensure
the provision of necessary medical assistance and health care to all children
with an emphasis on the development of primary healthcare," enshrined in
Art. 24, paragraph 2 (c), is interpreted as imposing an obligation upon States
to "prioritise universal access for children to primary healthcare
services" (CRC, 2013, para. 36), and to "make all essential medicines
on the WHO Model Lists of Essential Medicines (…) available, accessible and
affordable" (CRC, 2013, para. 37). Finally, art. 24, paragraph 2 (d) also
includes an obligation that does specifically address the specific needs of
patients with rare diseases: the obligation for States to "combat disease
(…) through the application of readily available technology" (Convention
on the Rights of the Child, 1989, para. 24 (2)(c)). This point is reiterated in
the CRC reference regarding technologies for "immunisation against the
common childhood diseases" or "essential antibiotics and antiviral
drugs" (CRC, 2013, para. 41).

Part 2 - Time
for a change of paradigm: implications of equity and justice for rare diseases

Despite the considerable number of
patients living with a rare disease worldwide, they are not defined as people
who suffer from a disease commonly found within a population. Consequently,
they have so far been deprived of the full and equal enjoyment of their rights
to health and to science, rights that are particularly relevant for the
achievement of health equity and social justice. In this section, we argue that
this should change due to an evolving interpretation of States' obligations
towards patients with a rare disease, resulting from a strong emphasis on
social justice at the international level in recent years. An approach that
links the right to health and the right to science has strong implications for
these patients' future.

Recognising Rare Disease Patients as a Vulnerable Group in Human Rights Law: an
important step towards social justice

Human rights instruments are designed to
protect all individuals, particularly those who are more vulnerable to
violations of their fundamental rights. To date, patients with a rare disease
have not been recognised by human rights bodies or courts as a group requiring
particular attention. In its GC 15, the CRC only considers children belonging
to "the poorest parts of the population and in developing States" as
being in a vulnerable situation (CRC, 2013, para. 86). Here, the Committee
aligns with the literature and the identification of disadvantaged individuals
as being "those at the bottom of the economical [sic] and social
scale" (Chapman, 2009, p. 14), evidently subject to multiple social,
economic, environmental, legal and political risk factors, and not those who
are disadvantaged due to a genetic disorder or other specific disease. In the
same vein, the CESCR, in its GC 14, identifies women, children, older persons,
persons with disabilities and Indigenous persons as the ones who should receive
special protection (CESCR, 2000).

However, today, many arguments support a change
of paradigm. The first is based on the evolution of discrimination over time.
In its 2009 2009 General Comment on the principles of non-discrimination and
equality as fundamental components of international human rights law, the CESCR
stated that "the nature of discrimination varies according to context and
evolves over time" (CESCR, 2009, para. 27). Accordingly, the lists of
grounds developed in its general comments and concluding observations are not
exhaustive, and other possible prohibited grounds – or sources of
discrimination and marginalisation – can be recognised, and new groups
requiring special protection may be identified. For example, individuals with
HIV status have been progressively recognised as such a group due to the
multiple restrictions imposed on their civil and political rights, as well as
their economic, social and cultural rights (CESCR, 2009). Another example is
given by the GC 25 with the recognition of lesbian, gay, bisexual, transgender,
queer and intersex (LGBTQI) persons (Holzhacker,
2014) as a group deserving special protection, as have women, persons with
disabilities, Indigenous people and persons – more particularly children –
living in poverty (CESCR, 2009).

Patients living with a rare disease experience
numerous forms of discrimination that are difficult to consider as
"systemic" due to the rarity and specificity of their conditions at
the national level. However, the lack of available and accessible diagnostic
tools and medicines constitutes a considerable barrier to both their right to
health and their right to science. This amounts to discrimination, which
arguably justifies the recognition of these patients as requiring special
protection, as well as the development of special procedures to facilitate the
protection and promotion of their rights based on the procedures already
mandated by the Human Rights Council on specific groups (children, Indigenous
people, older people, etc.).

The second argument is linked to the recent
attention given by the international community to the principle of social
justice and the achievement of equity in health. While the concept of equity in
health has been at the centre of discussions conducted by the International
Negotiating Body in charge of the development of a new pandemic legal
instrument (WHO Collaborating Center, 2023) since
2022, the principle of social justice has been a cornerstone of the Sustainable
Development Agenda 2030, adopted in 2015 by the UNGA (UNGA, 2015),. The
so-called 2030 Agenda does not expressly refer to either international human
rights norms or the rights to health or science. However, it sets out the
strategies to be jointly followed by each nation and the international
community, strategies inspired by international human rights instruments
(Ebbeson & Hey, 2022), to achieve a common vision of a "just,
equitable, tolerant, open and socially inclusive world in which the needs of
the most vulnerable are met" (UNGA, 2015, para. 8).

It is within this framework that patients with
rare diseases have been recognised as a special group, whose specific needs
must be taken seriously. More precisely, rare diseases must be taken into
account for the full realisation of UHC, which is also a central component of
the 3rd Sustainable Development Goal on health and well-being (Dagron, 2022). In 2019, the UNGA expressly acknowledged an
obligation for States to address rare diseases as part of UHC (UNGA, 2019, para
34). It also defined UHC as ensuring "that all people have access, without
discrimination, to nationally determined sets of the needed promotive,
preventive, curative, rehabilitative and palliative essential health services,
and essential, safe affordable, effective and quality medicines and vaccines,
while ensuring that the use of these services does not expose the users to
financial hardship, with a special emphasis on the poor, vulnerable, and
marginalised segments of the population" (UNGA, 2019, para. 8).

Moreover, for the European Union, patients with
rare diseases belong to the vulnerable "segments of the population"
deserving special treatment. For instance, the strong link between solidarity,
Universal Health Coverage (UHC), and rare diseases is evident in the EU's
public health strategies following the COVID-19 pandemic (EU Parliament, 2020;
EU Commission, 2021). The same is true for the High Commissioner for Human
Rights (HCHR) in a report on the contribution of human rights to the conceptualisation
of UHC (HCHR, 2019). The HCHR notes that "even when access to some form of
health care exists, coverage usually mirrors health issues as experienced by
the general population, with little or no attention paid to the specific needs
and rights of persons living with rare diseases" (HCHR, 2019, para. 29).
The HCHR also highlights that "the paucity of medical and scientific
knowledge about rare diseases drives [the]marginalisation [of the patients],
with the result that many people remain undiagnosed and therapies are difficult
to develop" (HCHR, 2019, para. 29) Finally, according to the HCHR,
"rare diseases often attract stigma and discrimination, and many persons
living with a rare disease find themselves excluded from participation in
employment and from integrating fully and productively into society."
(HCHR, 2019, para. 29) As a consequence, the HCHR encourages States to scale up
their efforts to achieve UHC by 2030, including "efforts to address (…)
rare diseases (…) as part of universal health coverage" (HCHR, 2019, para.
34).

It is worth noting that the designation of
groups as requiring special attention or as being "vulnerable" has
been recognised as potentially leading to stigmatisation, misplaced
paternalism, or even essentialism (Peroni & Timmer, 2013). This risk,
inherent in the concept of vulnerability, must be taken seriously. However, in
the case of rare diseases, such risks do not appear to be prominent. The
primary source of discrimination stems from the lack of medical and scientific
knowledge rather than the specific and personal attributes of each patient.
Their particularities are rooted in the complexity and severity of the disease
they suffer from, not in characteristics such as gender, socioeconomic status
or nationality (recognised as forbidden sources of discrimination) (ICCPR,
1966, art. 26; ICESCR, 1966, art. 2) – although they may also experience
discrimination related to these characteristics. Moreover, these patients are
not deprived of their independence and have shown strong capacities to address
their vulnerabilities, both as individuals asserting their rights in court (Dagron, 2011b) and collectively as a group. For instance,
lobbying efforts from grassroots patient groups in advancing human rights-based
approaches were the driving force behind the legislative efforts analysed
above. The advocacy of these groups has helped hold their governments
accountable for protecting patients' rights to life and health (Dunkle et al.,
2010). A change of paradigm in how the needs of patients with rare
diseases are comprehensively addressed through a human rights lens constitutes
a remarkable step forward. With the implementation of the right to science,
specific actions are no longer seen as political choices but as legal
obligations for States.

Advancing equity in health for rare disease
patients through human rights: what implications today?

The recognition of patients living with a rare
disease as a group with specific risks and needs creates positive (legal)
obligations for States to address all sources of risks and promote
(substantive) equality. In light of the UNGA Resolutions on rare diseases, TB
or NCDs, the CESCR interpretation of the right to science (CESCR, 2020), and
academic discussions on invoking this right in specific contexts (Frick &
Dang, 2021), the call to address the health needs of patients with rare
diseases through a human rights lens has significant implications.

Although
complementary, these implications differ depending on whether we consider the
implementation of the right to health in conjunction with the right to adequate
standards of living or the implementation of the right to science. The UNGA
2021 Resolution on rare diseases expressly refers to the first set of rights
and identifies a two-fold, complementary goal for States addressing rare
diseases.

Concerning the right to health, the UNGA
emphasises that States must strengthen their health systems to ensure access to
healthcare services that are safe, of the highest attainable quality,
accessible, available and affordable, timely, and both clinically and
financially integrated (UNGA, 2021).

Regarding the right to an adequate standard of
living, the Resolution considers that States must address the root causes of
social inequality and discrimination. These include specific social challenges
related to education, employment, and leisure; achieving gender equality,
particularly in access to healthcare services, education, and decent work; and
ensuring access to social protection and assistance, including universal and
equitable access to quality health services without financial hardship (UNGA, 2021).

When considering the implementation of the
right to science, States must adopt a more systematic approach that combines
measures designed to guide, support and enable scientific progress. First,
States must guide research toward achieving specific goals for patients living
with rare diseases. This involves addressing the role of private companies in
decision-making related to research and accessibility. Although the challenges
faced by patients with rare diseases are primarily the result of biological specificities,
they are also exacerbated by a research structure that prioritises market
objectives over healthcare needs. The pharmaceutical industry tends to define
its research priorities based on the potential marketability of new products,
which in turn depends on the number of potential future consumers, a country's
economic purchasing power, and the capacity of health systems to deliver
treatments (Trouiller et al., 2002).

Given the central role of the pharmaceutical
industry in the research and development of technologies and treatments for
rare diseases, it seems more necessary than ever to advocate for the greater
recognition of the human rights-related responsibilities of pharmaceutical
companies, as mentioned in the "UN Guiding principles on business and
human rights" adopted in 2011 by the Human Rights Council (UN Human Rights
Council, Resolution 17/4). In 2008, the UN Special Rapporteur on the right to
health, relying on the principles of equality and non-discrimination as
expressions of social justice, had already urged private companies to
"give particular attention to the needs of disadvantaged individuals,
communities and populations, such as children, the elderly and those living in
poverty" (UN Special Rapporteur, 2008, guideline 5). Although his focus at
the time was on neglected diseases, the reasoning applies equally to rare
diseases today.

Second, States must support the research and
development of diagnostic tools and treatments. Such support can be the result
of legislative instruments, as previously mentioned, that promote the research
and development of orphan drugs. It can also be the result of promoting
international contacts and cooperation in the scientific field, as required by
Art.15 (4) of the ICESCR. As scientific progress becomes increasingly dependent
on data and information exchange between countries and regions, States should promote
cross-border scientific collaborations, which should also include the sharing
of research results, as well as cooperation between the private and public
sectors and among national, regional, and international authorities involved in
rare diseases strategies. Art. 15 (4) of the ICESCR expressly refers to the
benefits derived from international cooperation in the scientific field, and
the CRC emphasises that the realisation of the child's right to health,
especially in developing countries, depends on such collaboration (CRC, 2013).

Notably, several collaborative efforts are
already in place. These include platforms such as Orphanet,
created in 1997 through a cooperative initiative involving eight countries,
including France, Germany and Switzerland and supported by the European Union (Orphanet, 1997; Kolkhir, 2023),
and the International Rare Diseases Research Consortium launched in 2011
(International Rare Disease Research Consortium, 2011). Both initiatives are
dedicated to collecting data and disseminating information on rare diseases,
making significant contributions to addressing the diagnosis and treatment of
affected patients.

Finally, States should adopt measures that
enable patients not only to access the applications of scientific research
(diagnostic tools and treatments) and the related knowledge and information
(including research findings and data) (CESCR, 2020, paras. 16-17; CRC, 2013,
paras. 5, 28; Frick & Dang, 2021), but also to be directly involved. This
inclusion is part of the "participation" dimension of patients'
rights (Frick & Dang, 2021). Patients living with rare diseases – as well
as persons with disabilities, as understood by the CESCR, or citizens more
generally (CESCR, 2020) – have the right to participate in the decision-making
process, including those related to research priorities and broader public
health strategies concerning access to the benefits of research.

The combination of these sets of measures is
essential. To date, support for research and development alone, as recommended
by the 2021 UNGA resolution (UNGA, 2021), has not ensured that people living
with rare diseases can fully benefit from scientific progress. This has been
demonstrated in the US and the EU, where legislation on rare diseases primarily
addresses the costs of R&D (through financial incentives and extended
intellectual property rights) while still allowing the industry's freedom to
define which research and diseases to address.

On the one hand, evaluations in both regions
reveal a certain degree of commitment to supporting patients living with rare
diseases. For instance, analyses of US legislation have shown that the adoption
of the ODA encouraged research into rare diseases, as evidenced by a notable
increase in approvals for rare disease products (Miller & Lanthier, 2018).
Furthermore, a 2020 analysis by the European Commission has shown that since
the 1999 Orphan Regulation, there has been a significant increase in the
availability of orphan medicines and investments in rare disease research and
development (R&D) (EU Commission, 2020).

On the other hand, these same analyses
highlight that this increase in the number of available drugs has not
translated into broader coverage of specific patient needs (Miller &
Lanthier, 2018). According to the European Commission's evaluations of regulations
on rare diseases and paediatric research, "unmet medical need[s]"
have not been properly addressed, as for the large majority of rare diseases,
there still is no treatment available (EU Commission, 2020, p. 34). The report
concluded that the legislative instruments "have not done enough to direct
the development [of drugs] in [these] areas" (EU Commission, 2020, p. 34);
it also noted that "product development tends to cluster around certain
(more profitable) therapeutic areas." As a result, "the number of
treatment options is expanding for some conditions", such as certain
cancers (EU Commission, 2020, p. 41). In response, in 2022, the European
Economic and Social Committee expressed its disappointment in the progress made
and called "for a comprehensive European approach that takes into account
all the needs of people with rare diseases" (EESC, 2022, para. 1.1).

Conclusions

Patients living with a rare disease face not only fundamental
discrimination, manifested in the lack of diagnostic tools and treatments and
the resulting inability to enjoy their right to health and benefit from
scientific progress, but also additional forms of discrimination based on
socioeconomic status, gender, age, and other factors. They are also subjected
to a deep injustice stemming from the specific characteristics of their
condition.

Taking action to fulfil their
human rights obligations means that States must intervene to strengthen their
health systems, address the root causes of inequality and discrimination, and
direct scientific research towards unmet needs. This includes supporting
research and development, particularly through the strengthening of
international cooperation, and ensuring patients' access to diagnostic tools
and treatment alongside their participation in the decision-making process.

Acting in accordance with the principles of social justice demands that
States prioritise the needs of patients with rare diseases, even when doing so
may challenge cost-efficiency metrics used in broader public health policies.
Access to quality health services and essential medicinal products without
financial hardship is a significant challenge for a large part of the world's
population today (DESA, 2022a; ILO, 2021). Even in high-income countries,
trade-offs are always present in healthcare, as no system operates with
unlimited resources. Until now, States have favoured those whose needs they
consider the most pressing based on epidemiological information and central
objectives, such as maternal and child health, health security, and epidemic
control (CESCR, 2000). However, when guided by specific values such as
solidarity, health equity and social justice, adopting an HRBA to healthcare
introduces additional obligations into the equation. The specific healthcare
needs of patients with rare diseases must be given the same level of priority
as those of any other group whose needs have traditionally been viewed as most
urgent. In light of ongoing global health reforms, it is time to integrate rare
disease justice into mainstream health and human rights strategies.

Acknowledgements

The author
wishes to express her gratitude to the participants and organisers of the
Symposium on the Right to Science with a Focus on Health (in particular to
Samantha Besson, Gérard Escher and Bartha Knopper), which took place at the
Brocher Foundation in Switzerland in December 2021, for their extensive
discussions on the right to science. Special thanks to Patrick Taran for his
insightful contributions to social justice and to Pauline Roy and Elizabeth
Joanne Schwarczer for their bibliographic research and
language editing support.

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