The Economic Case
for Early diagnosis of
Genetic Disosders - Ecuador
The Economic Case for Early Diagnosis of Genetic Disorders – Ecuador
Introduction
Ecuador faces significant public health challenges in diagnosing and managing rare diseases, particularly genetic metabolic disorders (GMDs). This white paper proposes the establishment of a National Commission on Rare Diseases, supported by the TAMEN Database and expanded newborn screening (NBS) programs. The proposed initiatives aim to close critical gaps in early diagnosis, equitable healthcare access, follow-up care, and sustainable funding. Financial support from the Harriet Joyce Foundation will catalyze these efforts. Implementing this proposal will not only improve the quality of life for thousands of affected children and families but also result in substantial long-term savings for the Ecuadorian healthcare system
Background and Context
Rare diseases—though individually uncommon—represent a major healthcare burden. Genetic metabolic disorders, a significant subset, often present within the first month of life. Newborn screening (NBS) allows for early diagnosis and intervention, often preventing irreversible health complications or death. Ecuador’s current NBS infrastructure is limited in scope and reach, particularly in rural and underserved regions. The TAMEN Database, established in 2011, is a valuable tool in monitoring and diagnosing rare conditions like PKU and congenital hypothyroidism, but its capacity must be expanded and integrated into a more coordinated national effort.
Ecuador faces multiple barriers to effective management of rare diseases. First, rural healthcare centers lack trained personnel and equipment for comprehensive NBS. Second, there is insufficient public awareness—families and healthcare providers often do not recognize the importance of NBS, especially for rare conditions. Third, the current NBS program, costing approximately $50 million annually, is significantly underfunded relative to its benefits. Fourth, the scope of screening is limited; only 49 GMD cases are identified annually, whereas estimates suggest that around 540 occur each year—leaving nearly 491 cases undiagnosed. Finally, follow-up and care coordination for diagnosed children remains fragmented, especially outside of urban centers.
Economic Impact of Undiagnosed Rare Diseases
The scale of undiagnosed GMDs in Ecuador presents a major public health and financial challenge. An estimated 491 cases go undiagnosed each year, totaling nearly 5,000 cases over a decade. While treating the currently diagnosed 49 cases costs the system approximately $15.2 million annually, the untreated burden of the remaining cases could reach a staggering $7.46 billion per year. These figures highlight the enormous financial incentive for early detection and screening, making a compelling case for investing in a broader and more inclusive national
Genetic Metabolic Disorders (GMDs) in Ecuador
Metric |
Value |
|---|---|
1. Annual live births globally (1)
|
132 million
|
2. Annual newborns with rare disorders globally
|
7 million
|
3. Incidence of rare disorders globally in newborns (3)
|
5.30%
|
4. Annual live births in the USA (4)
|
3.6 million
|
5. GMDs detected through NBS in the USA (35+GMDs) (5,6)
|
6,500
|
6. Percentage of babies born annually in the USA with GMDs (6,500/3.6 million)
|
0.18%
|
7. Annual live births in Ecuador (7)
|
300,000
|
8. Estimated number of newborns in Ecuador with rare disorders (5.30% of 300,000)
|
15,900
|
9. Estimated number of babies in Ecuador with GMDs (0.18% of 300,000)
|
540
|
10. Confirmed cases of 4 disorders in TAMEN database (2012-2019)
|
393
|
11. Confirmed cases of the 4 disorders per year in TAMEN database
|
49
|
12. Unidentified cases of GMDs per year (540-49)
|
491
|
13. Unidentified cases over a 10-year period (491 x 10)
|
4,910
|
14. Cost of Ecuador’s NBS program annually (8)
|
$50 million
|
15. Annual Savings to Ecuador’s healthcare system from NBS program (8)
|
$742.7 million
|
16. Annual Cost to Ministry of Health per diagnosed case
|
$1 million (49 cases)
|
17. Annual Cost to Ministry of Health per undiagnosed case ($742.7 for 49 cases)
|
$15.2 million
|
18. Total annual cost to Ministry of Health for undiagnosed cases ($15.2 x 491 cases)
|
$7.46 billion (491 cases)
|
Approvals and Future Impact
While funding is in place and the design is complete, it is still subject to revision and requires formal approval from Ecuador’s Ministry of Health and an Institutional Review Board (IRB) before any research activities can begin.
By combining hypothesis-free discovery with hypothesis-driven validation, the Harriet Joyce Foundation’s investment positions Ecuador to become a regional leader in genomic newborn screening—creating a model that is equitable, sustainable, and scientifically rigorous. The ultimate objective is to drive policy change for the development, modification, or expansion of Ecuador’s national newborn screening panel and to support future clinical research and services aligned withthe country’s public health priorities.
References
(1) Hannah Ritchie and Edouard Mathieu (2023) – “How many people die and how many are born each year?” Published online at OurWorldinData.org. Retrieved from: https://ourworldindata.org/births-and-deaths [Online Resource]
(2) To estimate the 7 million newborns globally affected by rare disorders, we begin by considering the global number of live births, which is approximately 132 million each year. Rare diseases affect about 5.3% of the population, and it is estimated that 70% of these conditions manifest during childhood or infancy. This means that 3.7% of newborns could be affected by rare disorders early on (5.3% x 70%).
(3) Verma IC, Puri RD. Global burden of genetic disease and the role of genetic screening. Semin Fetal Neonatal Med. 2015 Oct;20(5):354-63. doi: 10.1016/j.siny.2015.07.002. Epub 2015 Aug 4. PMID: 26251359 https://pubmed.ncbi.nlm.nih.gov/26251359/
(4) CDC Vital Statistics Rapid Release Births: Provisional Data for 2023. Report 35, 2024
(5) CDC suggests ~12,000 newborns confirmed cases detected by NBS in USA based on 2012 data, 6,500 cases if you include only the metabolic conditions, excluding hearing loss and Cystic fibrosis. https://www.cdc.gov/mmwr/preview/mmwrhtml/mm6121a2.html
(6) Sontag MK, Yusuf C, Grosse SD, et al. Infants with Congenital Disorders Identified Through Newborn Screening — United States, 2015–2017. MMWR Morb Mortal Wkly Rep 2020;69:1265–1268. DOI: http://dx.doi.org/10.15585/mmwr.mm6936a6
(7) Pozo-Palacios, et al., (2021) Spatial Distribution of Congenital Disorders Diagnosed by the Newborn Screening Program in Ecuador. Journal of Inborn Errors of Metabolism and Screeninghttps://doi.org/10.1590/2326-4594-JIEMS-2020-0016
(8) Ministerio de Salud Pública