One stripe at a time:raising awareness of rarediseases in Latin America
Supported byIntroduction
Despite advances in innovative therapies andthe adoption of more contemporary strategies
for managing rare diseases (RDs), significant
disparities in access to effective and timely care
for a crucial, yet often overlooked, category of
diseases persists in Latin America. This briefing
article, commissioned by AstraZeneca, raises
awareness around existing barriers to care for
RDs in the region and explores opportunities for
improvement.

The findings and views expressed in thisreport do not necessarily reflect the viewsof the sponsor. Economist Impact bears sole
responsibility for the contents of this report.
While every effort has been taken to verify theaccuracy of this information, Economist Impact
cannot accept any responsibility or liability forreliance by any person on this report or any of
the information, opinions, or conclusions set out
within.

The editorial team at Economist Impact would
like to thank the following individuals (listed
alphabetically) for generously contributing theirtime and insights, which have been critical to thecreation of this briefing article.

This research was led by Kati Chilikova. The
report was authored by Kati Chilikova andAlcir Santos Neto, and edited by Maria Ronald.
Latifat Okara oversaw and directed the research
program.

• Valentina Goldschmidt Plate, Hematologist,
Hospital Padre Hurtado, Fundación Arturo
López Pérez, Chile• Jacqueline Tovar, Director, Iniciativa Pensemosen Cebras, Mexico• Gabriela Repetto, Clinical Geneticist, Director,
Rare Disease Program, Centro de Genética
y Genómica, Facultad de Medicina, Clínica
Alemana Universidad del Desarrollo, Chile• Rafa Zimbaldi, State Representative,
Legislative Assembly of the State of São Paulo,
Brazil©Economist Impact 2024

One stripe at a time: raising awareness of rare diseases in Latin America

2State of RDs in Latin America: trends of note
RDs are not so rare.
RDs are a group of poorly understood,
predominantly heritable disorders that often
manifest in childhood and have a significant
impact on quality of life and life expectancy.1
There is no universally accepted definition ofRDs. According to the World Health Organization(WHO), a RD is one that affects less than 65 outof every 100,000 people.2 While this definitionis widely used, the minimum critical prevalence
threshold of what constitutes a RD varies acrosscountries. In Latin America, some countries like
Brazil follow the WHO definition of an RD, whileothers, like Argentina, Chile, Mexico, Panama,and Uruguay have adopted lower prevalence
thresholds, as set by the European Union (EU),which is 5 per 100,000 individuals.3
RDs are not uncommon. Research indicatesthat there are between 6,000-8,000 RDs,
which affect approximately 350-450m people
globally.4,5,6,7,8,9 In Latin America alone, roughly
40-50m people are affected by a RD.10 Estimatesof the total disease burden vary due to the lack of

a consistent definition of RDs across the region
and patchy prevalence data,10 but researchsuggests that the highest burden in the region
is observed in Brazil (13m), Mexico (6m), andArgentina (3m).7
Measured in prevalence per 100,000 people, themost common RDs globally are narcolepsy (50),
primary biliary cholangitis (40), Fabry disease(30), cystic fibrosis (25), hemophilia (20), spinal
muscular atrophy (13), and retinal dystrophy(13).10 While these diseases affect a very small
number of people individually, taken together,
they affect a significant proportion of the global
population. Understanding their care pathways
can therefore also identify promising approaches
to better disease management more broadly.
Approximately 80% of RDs are genetic in
origin, and the majority (75%) manifest duringchildhood, with children aged 0-5 years being
most impacted.7 RDs are responsible forapproximately 35% of deaths in the first year ofa child’s life; approximately 30% of children die
before reaching their fifth birthday.10,11

Approximately 80% of RDs
are genetic in origin, andthe majority (75%) manifest
during childhood, withchildren aged 0-5 years
being most impacted.

©Economist Impact 2024

One stripe at a time: raising awareness of rare diseases in Latin America

The economic burden on both patientsand health systems is high, but grossly
underestimated.
The economic burden of RDs is estimatedto be high; however, it should be noted thatthe availability of reliable and consistent dataon costs is limited, especially in resourceconstrained settings.10 The high economic burden
is closely associated with the hefty price tag that
accompanies the cost of drugs and care.
Treatment of RDs is some of the most expensiveon the market; orphan drugs,12 developed totreat RDs, can cost as much as five to 25 times
the cost of non-orphan drugs.2,10 It is estimatedthat 88% of orphan drugs cost more than
US$10,000 a year per person.2 The high cost ofthese drugs is due to the lack of production andcommercialization in Latin America.2 While thecost of developing orphan drugs is equally highas any other drug, the buyer pool is substantiallysmaller. As very few countries in Latin America
have incorporated orphan drugs into their
public health schemes, this presents a significant
accessibility and reimbursement challenge forpatients. It is also a risky economic investment
for pharmaceutical companies.6

It is estimated that 88% of orphan drugs costmore than US$10,000 a year per person. 2
Research has yet to explore the total economic
cost of RDs in Latin America; however, in 2019,
the total economic cost of just 379 RDs wasestimated at approximately US$1trn — in the
United States alone.13 An estimated US$449bn
accounted for direct medical costs and an
additional US$548bn accounted for indirect,
non-medical and healthcare costs not coveredby insurance. In Mexico, the total cost per patient
for hemophilia, a rare bleeding disorder, alone
was estimated at US$332,458 in 2019, and in
Ecuador, it was US$156,064 in 2017.10
This financial burden not only affects individuals
but also significantly impacts national healthbudgets. For example, in 2019, the Peruvian

3

Ministry of Health spent US$33m in care for
42,000 people living with a RD, and in Colombia,
the economic burden of atypical hemolytic
uremic syndrome treatment was nearly US$4m
for only 18 patients, in the same year.10 Evenin the context of just one RD, these costs are
significant and pose challenges and concerns
for the sustainability of health systems in Latin
America.
The social burden of RDs on patients andcaregivers is significant.
The chronic and disabling nature of RDs severely
impacts patients’ quality of life, as well as theirmental health and personal well-being, andsocial and economic opportunities. Research
indicates that those living with a RD often
experience behavioral problems, strong feelingsof isolation, depression, and violent outbursts
that prevent them from maintaining an active
and healthy social and/or professional life.10,14
Often, these feelings result from difficulties inaccessing timely and accurate diagnosis andtreatment and/or due to a perceived lack ofpolitical visibility, prioritization, and support for
their condition.10,15
Patients often rely on family members for care. In
Latin America, there are twice as many caregivers
as RD patients; there are approximately 80m RD
caregivers, most of whom are disproportionately
women and typically mothers of someone
living with a RD.16 The taxing and time-intensive
nature of caregiving for a patient with a RD
leaves many caregivers struggling physically,
mentally, and professionally. A Brazilian survey
revealed that caregivers of those living with a RD
experience: bodily pain (79%), poor sleep quality(60%), and insufficient energy to complete
daily activities (82%). The majority of caregivers
also report feeling lost (72%) and emotionallyisolated (68%).16 Additionally, many are forced
to stop working or reduce their hours to care for
their loved ones. This puts additional financialpressure on households, which are often alreadygrappling with the high costs associated with RD
treatment and care.

©Economist Impact 2024

One stripe at a time: raising awareness of rare diseases in Latin America

4

Assessing challenges across the patient care journey in Latin America
Research has highlighted a significant lack ofawareness and knowledge regarding the carepathway for RDs, spanning from early diagnosis
to treatment, among patients, healthcare
professionals, and political decision-makers,
indicating a need for urgent action. While themajority of RDs are genetic and hereditary,
patients are often unaware of their genetic
predisposition; unfamiliar with the signs andsymptoms, many also do not seek timely medical
attention.17 Given the low prevalence of RDs,
healthcare professionals, including primarycare providers (PCPs), equally lack sufficientknowledge about RDs.17 As a result, PCPs often
incorrectly assess and attribute RD symptoms tomore common diseases, thereby misdiagnosing
RD patients.17 The scarcity of critical knowledge,
guidelines, and training on RDs for healthcare
professionals impedes the referral and diagnosis
process, and therefore impacts access to timely
and adequate treatment and care.10

A correct RD diagnosis can take four tofive years and require multiple healthcare
consultations. However, the diagnostic
pilgrimage can sometimes span decades.
On a public health policy level, RDs are often
overlooked. Public health funding, especially inresource-constrained settings, is limited; many
countries in Latin America struggle to put RDs on
the policy agenda.10 RDs are often deprioritizedin environments where several political priorities
compete for national funding. Rafa Zimbaldi,State Representative in the Legislative Assemblyof the State of São Paulo, Brazil, affirms thisreality, stating that often policymakers “leaveout [of the policy agenda] important discussions[like rare disease…] because they do not reachor benefit many people”. This is why patientadvocacy groups, like Mexico’s Iniciativa
Pensemos en Cebras, continuously seek anaudience with policy and decision makers at thenational and local level, regardless of changes in
power and political administration. This, confirms
Jacqueline Tovar, the Director of Iniciativa
Pensemos en Cebras, allows for “continuity [andensures that rare diseases remain] a public policy
priority”.
While policies on RDs do exist across theregion, Latin American countries have come“relatively late to the game” in comparison toother countries.7 Colombia was the first Latin
American country to pass a comprehensive RD
healthcare policy (Ley 1392) in 2010. Since then,other countries in the region have followed suit.
However, RD policies across these countries vary
greatly, in terms of comprehensiveness, level of
public funding, and patient financial protection.
Research10 shows that countries like Argentina,
Brazil, Colombia, Ecuador, and Panama havecomprehensive RD policies that support andenable disease management for patients andaccess to dedicated health facilities. Conversely,other countries in the region, such as Guatemala,Mexico, Peru, and Uruguay, have only basic
protective policies codified into law, and have
yet to finance treatment or regulate access to
RD care. Some countries, such as Venezuela
and Cuba, have yet to develop any laws that
respond to the needs of patients living with RDs.
Meanwhile legislative efforts to move the needle
in Congress have been ongoing in Chile andCosta Rica.18,19
The patient advocate community in Latin
America is not only key to filling knowledge gaps
for PCPs and connecting patients and families
with resources and support, but also for driving
the development and adoption of legislationand programs to improve RD research, care,and therapeutic access.10 Their role is critical inensuring that RD patients have a voice, especiallygiven that approximately 50% of RDs do nothave disease-specific foundations/researchgroups or communities.10 Ms Tovar confirms
the importance of building a patient advocate
community, explaining that “we are the hand
©Economist Impact 2024

One stripe at a time: raising awareness of rare diseases in Latin America

that accompanies [patients] and guides themthroughout their care process, empowering andadvocating for them”.
Patient advocate groups have been particularly
active and successful in moving the needle
on regulation in countries, such as Argentina,
Colombia, Panama, Peru, and Mexico, andworking closely with decision-makers toensure adequate care for those living with an
RD.20 For Ms Tovar, success relies on ensuringthat decision-makers understand that actions
taken to benefit the patient community are“an investment, […] and that disease sequelae,
disability, and admissions to intensive care
will always carry a higher cost”. Examples ofpatient advocacy efforts in the region include
Argentina’s Pituitary Disease Association, whichhas provided medical guidance to PCPs on how
to diagnose pituitary diseases in new patients,and Mexico’s Lysosomal Storage Disease Patient
network, which has created a comprehensive
care model for lysosomal storage disease thathas garnered high-level political attention andfinancial endorsement.21
The diagnostic odyssey
The road to diagnosis for RD patients in Latin
America is long. In Brazil, Colombia andArgentina, patients experience substantiallylong wait times to get a diagnosis. Researchshows that RD patients in these countries
have multiple interactions with the healthcare
system before an accurate diagnosis is achieved
and treatment is initiated.10 In Colombia for
instance, patients report enduring at least
eight consultations and receiving at least threewrong diagnoses before reaching an accurate
diagnosis.10 Mr Zimbaldi also confirms thatpatients and their caregivers in Brazil “end up
having to go to several doctors, sometimes
an infinite number of them” before receivinga correct diagnosis and access to care. This
experience of delayed and inaccurate diagnoses
is also seen in Chile. “RDs are diagnosed late…if
diagnoses are confirmed at all,” affirms Valentina
Goldschmidt Plate, Hematologist at the Hospital
Padre Hurtado in Chile.

5

Generally, in Latin America, 75% of RD
patients lack a definitive diagnosis.3 One factor
contributing to mis- and underdiagnosis is thesignificant knowledge gap among healthcare
professionals, especially PCPs, caused by therarity and complexity of these diseases and theabsence of standardized criteria for diagnosis.10,17
Gabriela Repetto, Clinical Geneticist and Directorof the Center for Genetics and Genomics
at Facultad de Medicina Clínica Alemana
Universidad del Desarrollo, in Chile emphasizes
this critical issue, stating, “We have to admit ourlack of knowledge and the difficulty in acquiringand maintaining the [necessary] clinical skills…
[education and training] really depends on
personal interest and time.” This knowledge gap
often results in delays in both diagnosis and theinitiation of appropriate treatment. Delayed and/or inaccurate diagnosis can lead to inappropriate
disease management and disease progression,and significantly impact a patient’s health,well-being, and, ultimately, their survival.10 This,
coupled with the lack of treatment options (close
to 95% of RDs lack approved medical treatment),
can have significant ramifications for patients’
path forward in the care journey.11

75% of RD patientslack a definitive
diagnosis in Latin
America.3

Close to 		
95% of RDs lackapproved medical
treatment.11©Economist Impact 2024

One stripe at a time: raising awareness of rare diseases in Latin America“RDs are diagnosed late... if diagnoses are
confirmed at all.”Valentina Goldschmidt Plate, Hematologist, Hospital Padre Hurtado,
Fundación Arturo López Pérez, Chile.

The diagnostic delay for RDs varies dependingon the patient’s phenotype, age, and available
resources.22 On average, receiving the correct
diagnosis can take four to five years andrequire multiple healthcare consultations andreferrals to different specialists.22 However,the diagnostic pilgrimage can sometimes span
decades. Research across Europe shows thatapproximately 25% of patients endure lengthy
diagnostic odysseys ranging from five to 30
years, whereas others experience frequentmisdiagnosis (40%), often as a product of low
medical knowledge and/or a lack of genetic
testing tools and counseling.10,11,23 Additional
research is required to explore this trend acrossLatin America. It is, however, probable that thediagnostic odyssey is even longer given the
resource constraints and the lack of public policyin the region.
Research shows that knowledge gaps often
stem from a lack of education and training,
and that there is inadequate investment inmedical training for the specialized knowledge
necessary for diagnosis at the primary care level.
To further exacerbate the problem, there is aninsufficient number of specialists, such as clinicalgeneticists and genetic counselors, available
to provide guided diagnosis and treatment.10“Professionals are needed in the field, namely
genetic counselors, laboratory scientists, andbioinformaticians who can perform tests,” asserts
Ms Repetto. As a result, patients face difficulties
in locating healthcare professionals who canprovide precise diagnoses, thereby contributing
to longer wait times.10 This phenomenon isechoed by the Brazilian experience. Despite the
Ministry of Health’s launch of the Brazilian Policyof Comprehensive Care for People with Rare
Diseases in 2014, which sought to ensure publicaccess to genetic testing and specialized RD

6centers, access to early and accurate diagnosis
and treatment remains a challenge.2,5 This islargely because specialized centers remain
concentrated in university and public hospitals inlarge urban areas. Given Brazil’s large population,these specialized centers are not only insufficientin number, but often lack the necessary
laboratories and healthcare professionals
to perform the genetic tests required for
diagnosis.5
In Latin America, the healthcare systems not
only grapple with a shortage of healthcare
workers specialized in RDs, but they also lack
the resources necessary to ensure widespread
access to essential services such as screenings,
diagnoses, and treatments. These challenges
for the healthcare sector exacerbate thedifficulties in offering comprehensive care forall, particularly for those with rare or complex
conditions.
The high cost and accessibility challenges oftreatment
Equitable access, coverage, andreimbursement
The challenges of high costs and limitedaccessibility to RD treatments are increasingly
evident and can have a profound economic
impact on healthcare systems in Latin America.
Adding to these challenges is the reluctance of
insurance companies and governmental bodies
to reimburse RD drugs due to the high costsof these medications.6,14 High costs and lackof public policy can hinder the development
and commercialization of new treatments,
despite their potential to make groundbreaking
contributions to medicine and healthcare.10
However, there are countries in Latin America
that are taking steps to ensure that these
medications become more cost-effective.
The Chilean healthcare system operates under
the Ricarte Soto Law, which utilizes specificcriteria established by legislation to determine
which health conditions and interventions
are eligible for coverage. These criteria©Economist Impact 2024

One stripe at a time: raising awareness of rare diseases in Latin America

include disease burden, budget impact, social
preferences, cost-effectiveness evaluations, andtreatment costs that exceed a legal threshold.24
However, this framework presents challenges
for RD interventions. Often, interventions for
RDs fail to meet the standard cost-effectivenessthresholds. Traditional economic evaluation
methods do not fully capture the complete social
value and societal preferences, resulting in alack of coverage and inadequate healthcare forpatients with RDs.24 The prioritization criteria,
coupled with limited resource allocation, create
barriers to diagnosis and treatment, further
exacerbating the financial burden on patients,
families, communities, and the overall healthsystem.24 Without a legal framework specificallytailored for RDs, these conditions must competewith more common high-cost diseases that moreeasily meet the established criteria.
“There is very limited access to therapies...
but I think that this reality has to do withsocioeconomic factors and health, science, andresearch expenditures, [with Latin America]
being lower than high-income countries,” says
Ms Repetto. In this context, Ms Repetto’s analysis
of Chile’s healthcare system offers a clear
example of the hurdles in ensuring equitable
access to high-cost medications. Ms Goldschmidt
Plate agrees, explaining that “In the case ofparoxysmal nocturnal hemoglobinuria, forexample, [healthcare professionals] have goodaccess to diagnosis; however, the problem is that
it is difficult to ensure treatment because thepatients in the public system do not have accessto treatment, and in the private system they
have to fight [and sue to get access].”
Despite the existence of laws designed to cover
expensive therapies for certain diseases, thenarrow focus of these laws often excludes manyrare conditions, leaving many families to face
severe financial hardships. As Ms Goldschmidt
Plate reiterated, “There is a lack of coverage andgeneralized public policies in Latin America [...]
they are still diseases that are extraordinarily
neglected due to their infrequency and from acost-benefit point of view.” This underscores thepressing need for broader healthcare policies

7

that address the diverse, and often overlooked,
needs of patients with RDs.
Yet, there are signs of progress. Policies incountries like Mexico and Brazil are evolving
to improve access to RD drugs. Mexico’s andBrazil’s public health systems, for instance, havemade notable efforts to include treatments
for RDs within their healthcare frameworks.7
These steps represent a growing awarenessand acknowledgment of the need for inclusive
healthcare policies. However, the journey
towards equitable access and affordability for all
RDs patients is far from complete, underscoring
the need for policy reprioritization and costeffective innovation. Therefore, cost is only oneof the components that must be considered in
the pursuit of better access to RD care.
Socioeconomic status and geographic
disparities
In Latin America, access to RD diagnosis andtreatment is influenced by socioeconomic
status and geographic disparities.10 Many RD
patients are forced to travel long distances, often
outside of their countries of origin, to accesscare; yet, less than 3% of the Latin American
population is financially able to travel for medical
treatment.3 The majority of patients who canaccess diagnosis and treatment are members ofthe middle- and upper-class, who can afford toabsorb the travel costs associated with medical
tourism.

Many RD patientsare forced to travel
long distances, often
outside of theircountries of origin,to access care; yet,less than 3% of
the Latin American
population isfinancially able to
do so.3©Economist Impact 2024

One stripe at a time: raising awareness of rare diseases in Latin America

In general, urban centers, especially thosewith university or public hospitals, are better
equipped with medical services required for
RDs, in particular due to the concentrationof private genetics laboratories and clinicalservices.5 On the other hand, rural areas
suffer from a significant lack of such facilities,
highlighting a broader issue of health inequities
in the region. The quality of care for RDs also
largely depends on the socioeconomic standingof patients, revealing a critical need for more
equitable healthcare policies and infrastructure
improvements. Ms Repetto further underscores
this issue of geographic disparities by drawing
attention to the substantial gaps in access togenomic diagnosis across Latin America. She
points out that outside of the metropolitan cities
in Chile, rural and indigenous populations are
particularly underserved. This uneven access not
only lengthens the diagnostic journey but also
increases healthcare expenses.

Many who cannot afford medication andneed coverage seek legal routes.
The care journey for RD patients differs
significantly between the public and private
healthcare sectors. In the public system, there
are limitations to diagnosis and therapy access,leading to long, resource-intensive medical
journeys; this disproportionately impacts accessfor low-income patients.10 On the other hand,
although the private sector offers faster diagnosis
and treatments, high costs still restrict access,highlighting systemic challenges in both sectors.
Many who cannot afford medication and needcoverage seek legal routes.

8

Judicialization of accessTo overcome disparities imposed bysocioeconomic status, the judicialization ofaccess to medicines in Latin America, particularly
in countries like Colombia, Brazil, Argentina, andChile, is a growing phenomenon. Judicialization
is often a patient’s only recourse to accesstreatment and is increasingly used to obtain
medications in the region despite differencesin socioeconomic conditions, legal frameworks,
and health systems in these countries.25 Whilethese countries have made efforts to expand
health system coverage and access to medicines
since 2000, coverage remains uneven and largely
dependent on individual socioeconomic factors,
such as labor and health status, and the ability topay.
In Brazil, judicialization has influenced researchand development (R&D) policies, leading toinitiatives like public-private partnerships(PPPs) for local production of drugs that areconsidered a priority for the public healthsystem.2 This approach is partly in response tolimited access to RD diagnostics and treatment,
driving patients to seek judicial remedies basedon constitutionally guaranteed rights.2 Despite
Brazil’s approval of around 100 drugs for RDs,
legal action against the government and healthplans has become a common phenomenon
with significant financial implications, costing
the country nearly R$5.2bn between 2010 and2017.26©Economist Impact 2024

One stripe at a time: raising awareness of rare diseases in Latin America

9Conclusion and looking forward
Impacting nearly 7.5% of the Latin American
population, RDs are a public health priority.
While recent years have seen advances acrossthe treatment and reimbursement landscape,diagnostic challenges hamper progress andadversely impact patients and caregivers livingwith RDs. Addressing the years-long diagnostic
odyssey is key to ensuring RD patients live
healthier, longer, and more fulfilling lives. Yet, thischallenge cannot be addressed in silos by any
one entity. Instead, patient advocates, healthcare
professionals, regulators, policymakers, payers,
and other relevant actors, must work together toensure a supporting environment for RD care in
the region.

To truly disrupt the status quo and change
patients’ lives, an emphasis must be placed on
the need for more reliable data, knowledge, andawareness. This is critical not only for better
public health surveillance, but also for effective
and efficient public health policy and services.
Patient advocacy groups have a critical role toplay in this. They must continue to support andeducate patients and their caregivers, as well as
advocate for the development of new therapies
and more favorable policy environments for RDs.
Meanwhile, the efforts of local patient advocate
organizations should be complemented at theregional level by scientific and clinical research
partnerships.
There is also a pressing need to standardize
a regional definition of RDs and improve thecollection, quality, and use of data, which theaforementioned collaborations can facilitate andchampion. Only by mapping the true, real-world
disease burden (e.g., epidemiological, social,economic) on patients and their caregivers, canrelevant policymakers be made to understandthe urgent call for actions that respond to theneeds of the RD community.
The future is bright for people living with RDs
if Latin American countries foster a supportive
environment for innovation to thrive. While
progress has been made in countries like
Mexico, Brazil, and Colombia the availabilityof, and access to, cutting-edge genetic testing
technologies and RD treatment is far fromcomprehensive. This highlights the need forpolicy prioritization and cost-effective innovation
to ensure that cost is not a deterrent to RD
diagnosis, treatment, and care. Only throughconcerted efforts can we end the diagnostic
odyssey and transform the medical managementof RDs in Latin America.

©Economist Impact 2024

One stripe at a time: raising awareness of rare diseases in Latin America

10

References
1. Honavar SG. Uncommon ophthalmology – care for the rare. Indian J Ophthalmol. 2022;70(7):2213.
2. Lopes-Júnior LC, Ferraz VEF, Lima RAG, Schuab SIPC, Pessanha RM, Luz GS, Laignier MR, Nunes KZ,
Lopes AB, Grassi J, Moreira JA, Jardim FA, Leite FMC, Freitas PSS, Bertolini SR. Health policies for raredisease patients: a scoping review. Int J Environ Res Public Health. 2022;19(22):15174.
3. Wainstock D, Katz A. Advancing rare disease policy in Latin America: a call to action. Lancet Reg
Health Am. 2023;18:100434.
4. Cunico C, Vicente G, Leite SN. Initiatives to promote access to medicines after publication of
the Brazilian Policy on the Comprehensive Care of People with Rare Diseases. Orphanet J Rare Dis.
2023;18(1):259.
5. de Oliveira BM, Neiva MB, Carvalho I, Schwartz IVD, Alves D, Felix TM; Raras Network Group.
Availability of genetic tests in public health services in Brazil: data from the Brazilian Rare Diseases
Network. Public Health Genomics. 2023;26(1):145-158.
6. Pierzynowska K, Kamińska T, Węgrzyn G. One drug to treat many diseases: unlocking the economic
trap of rare diseases. Metab Brain Dis. 2020 Dec;35(8):1237-1240.
7. Arnold RJ, Bighash L, Bryón Nieto A, Tannus Branco de Araújo G, Gay-Molina JG, Augustovski F. The
role of globalization in drug development and access to orphan drugs: orphan drug legislation in the
US/EU and in Latin America. F1000Res. 2015;4:57.
8. Angelis A, Tordrup D, Kanavos P. Socio-economic burden of rare diseases: a systematic review of
cost of illness evidence. Health Policy. 2015;119(7):964-979.
9. Ferreira RL, do Nascimento IJB, de Almeida VIA, de Oliveira VRL, Marangne LG, Dos Santos
Gameleira F, Dutra TRC, de Oliveira Santos D, Dias Afonso MP, Dos Santos PEA, de Oliveira HN,
Vilhena Dias FM. The utilisation of primary health care system concepts positively impacts theassistance of patients with rare diseases despite limited knowledge and experience by health care
professionals: a qualitative synopsis of the evidence including approximately 78 000 individuals. J Glob
Health. 2023;13:04030.
10. Adachi T, El-Hattab AW, Jain R, Nogales Crespo KA, Quirland Lazo CI, Scarpa M, Summar
M, Wattanasirichaigoon D. Enhancing equitable access to rare disease diagnosis and treatment
around the world: a review of evidence, policies, and challenges. Int J Environ Res Public Health.
2023;20(6):4732.
11. Sequeira AR, Mentzakis E, Archangelidi O, Paolucci F. The economic and health impact of rarediseases: a meta-analysis. Health Policy Technol. 2021;10:32-44.
12. Orphan drugs and rare disease drugs are often used interchangeably in published literature. For
the purposes of this research, Economist Impact uses the definition in the US Orphan Drug Act (1984),
which classifies an orphan drug as one with “efficacy against a disease affecting fewer than 200 000
people... or one that... will not be profitable for seven years”.
13. Yang G, Cintina I, Pariser A, Oehrlein E, Sullivan J, Kennedy A. The national economic burden of raredisease in the United States in 2019. Orphanet J Rare Dis. 2022;17(1):163.
14. Chung CCY; Hong Kong Genome Project; Chu ATW, Chung BHY. Rare disease emerging as a global
public health priority. Front Public Health. 2022;10:1028545.

©Economist Impact 2024

One stripe at a time: raising awareness of rare diseases in Latin America

11

15. UN. General Assembly (76th session: 2021-2022). Addressing the challenges of persons living witha rare disease and their families: resolution / adopted by the General Assembly. New York (NY): United
Nations;2022. Available from: https://digitallibrary.un.org/record/3953765?ln+=+en&ln=ru.
16. Dias AG, Daher A, Barrera Ortiz L, Carreño-Moreno S, Hafez H SR, Jansen AM, Rico-Restrepo M,
Chaparro-Diaz L. Rarecare: a policy perspective on the burden of rare diseases on caregivers in Latin
America. Front Public Health. 2023;11:1127713.
17. Nestler-Parr S, Korchagina D, Toumi M, Pashos CL, Blanchette C, Molsen E, Morel T, Simoens
S, Kaló Z, Gatermann R, Redekop W. Challenges in research and health technology assessment ofrare disease technologies: report of the ISPOR Rare Disease Special Interest Group. Value Health.
2018;21(5):493-500.
18. Senado de la República de Chile. Proyecto de ley sobre enfermedades poco frecuentes. Senado;
2023. Available from: https://www.senado.cl/appsenado/templates/tramitacion/index.php?boletin_
ini=7643-11.
19. Caja Costarricense de Seguro Social. ASUNTO: Proyecto de ley “PREVENCIÓN Y ATENCIÓNINTEGRAL DE LA SALUD DE LAS PERSONAS CON ENFERMEDADES RARAS PARA MEJORAR SUCALIDAD DE VIDA Y LA DE SUS FAMILIAS”, Expediente legislativo No. 23257. Seguro Social;2023.
Available from:https://www.ccss.sa.cr/arc/actas/2023/files/9388-52278.pdf.
20. Tudela JC, Díaz AA, Galkute M, Henao AMM. Study on socio-health needs of people withrare diseases in Latin America. [Internet]. Ibero-American Alliance for Rare Diseases (ALIBER);
2022. Available from: https://www.enfermedades-raras.org/que-hacemos/por-la-investigacion/
investigacion-social/estudios/estudios-especificos/estudios/estudio-sobre-necesidadessociosanitarias-de-las-personas-con-enfermedades-raras-en-america-latina.
21. Dharssi S, Wong-Rieger D, Harold M, Terry S. Review of 11 national policies for rare diseases in thecontext of key patient needs. Orphanet J Rare Dis. 2017;12(1):63.
22. Marwaha S, Knowles JW, Ashley EA. A guide for the diagnosis of rare and undiagnosed disease:beyond the exome. Genome Med. 2022;14(1):23.
23. Nothaft W, Goldsmith C, Le Cam Y. It takes far too long for a rare disease to be diagnosed. Here’s
how that can change. Geneva: World Economic Forum;2020. Available from: https://www.weforum.
org/agenda/2020/02/it-takes-far-too-long-for-a-rare-disease-to-be-diagnosed-heres-how-that-canchange/.
24. Encina G, Castillo-Laborde C, Lecaros JA, Dubois-Camacho K, Calderón JF, Aguilera X, Klein AD,
Repetto GM. Rare diseases in Chile: challenges and recommendations in universal health coveragecontext. Orphanet J Rare Dis. 2019;14(1):289.
25. Vargas-Pelaez CM, Rover MRM, Soares L, Blatt CR, Mantel-Teeuwisse AK, Rossi FA, Restrepo LG,
Latorre MC, López JJ, Bürgin MT, Silva C, Leite SN, Farias MR. Judicialization of access to medicines infour Latin American countries: a comparative qualitative analysis. Int J Equity Health. 2019;18(1):68.
26. Leal G. Doenças raras: Brasil é considerado “terreno fértil”, mas desafios ainda são latentes (Rarediseases: Brazil is considered ‘fertile ground and vanguard in Latin America’, but challenges are still
great). [Internet]. Brazil: Futuro da Saúde;2022. Available from: https://futurodasaude.com.br/especialdoencas-raras-brasil-e-considerado-terreno-fertil-e-vanguarda-na-america-latina-mas-desafiosainda-sao-grandes/.

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