Challenges in healthcare decision-making for rare diseases: exploring systemic heterogeneity and resource allocation in Chile

Nicolás Schöngut-Grollmus; Fernanda Manríquez-Castillo; Nicolás Olivares-Marchant; Pedro Álvarez-Muñoz; María-Alejandra Energici

doi:10.31893/multiscience.2025350

Keywords:

rare diseases

healthcare decision-making

diagnostic odyssey

resource allocation

chilean healthcare system

Abstract

Rare diseases, or orphan diseases, affect fewer than 1 in 2,000 people, presenting unique challenges for healthcare systems due to their low prevalence. This study explores the complexities of healthcare decision-making in Chile, focusing on two interrelated themes: the heterogeneity of healthcare systems and the allocation of resources. Using reflexive thematic analysis of interviews with ten healthcare professionals specializing in rare diseases, the study investigates systemic and structural barriers affecting care. Findings reveal that the heterogeneity of Chile’s healthcare system creates disparities in diagnosis and treatment, particularly for patients in rural areas where resources are limited. Patients often experience a prolonged "diagnostic odyssey" due to healthcare professionals’ lack of knowledge and experience in identifying rare conditions. Resource allocation further complicates care, as decisions are frequently dictated by limited availability rather than clinical best practices. Legislative gaps, such as the restricted scope of the Ricarte Soto Law, exacerbate inequities by limiting access to essential treatments. This paper concludes by recommending targeted policy reforms, enhanced training for healthcare professionals, and the implementation of standardized diagnostic and treatment guidelines. These measures aim to address disparities and improve healthcare outcomes for individuals living with rare diseases, fostering a more equitable healthcare system in Chile.
References
1. Allen, J., King, R., Goergen, S. K., Melder, A., Neeman, N., Hadley, A., & Hutchinson, A. M. (2019). Semistructured interviews regarding patients’ perceptions of Choosing Wisely and shared decision-making: An Australian study. BMJ Open, 9(8), e031831. https://doi.org/10.1136/bmjopen-2019-031831
2. Avellaneda Fernández, A., Pérez Martín, A., Pombo Allés, G., Gutiérrez Delgado, E., & Izquierdo Martínez, M. (2012). Percepción de las enfermedades raras por el médico de atención primaria. SEMERGEN - Medicina de Familia, 38(7), 421–431. https://doi.org/10.1016/j.semerg.2012.02.011
3. Bhattacharya, Y., Iyer, G., Kamireddy, A. P., Poornima, S., Juturu, K. K., & Hasan, Q. (2019). Rare Disease Advocacy Groups and Their Significance in Diagnosis, Management, Treatment, and Prevention of Rare Diseases. Intech Open, Online first. https://doi.org/10.5772/intechopen.88630
4. Braun, V., & Clarke, V. (2006). Using thematic analysis in psychology. Qualitative Research in Psychology, 3(2), 77–101. https://doi.org/10.1191/1478088706qp063oa
5. Braun, V., & Clarke, V. (2014). What can “thematic analysis” offer health and wellbeing researchers? International Journal of Qualitative Studies on Health and Well-Being, 9(1), 26152. https://doi.org/10.3402/qhw.v9.26152
6. Budych, K., Helms, T. M., & Schultz, C. (2012). How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient–physician interaction. Health Policy, 105(2–3), 154–164. https://doi.org/10.1016/j.healthpol.2012.02.018
7. Charles, C., Whelan, T., & Gafni, A. (1999). What do we mean by partnership in making decisions about treatment? BMJ, 319(7212), 780–782. https://doi.org/10.1136/bmj.319.7212.780
8. Delaye, J., Cacciatore, P., & Kole, A. (2022). Valuing the “Burden” and Impact of Rare Diseases: A Scoping Review. Frontiers in Pharmacology, 13, 914338. https://doi.org/10.3389/fphar.2022.914338
9. Douglas, C. M. W., Aith, F., Boon, W., De Neiva Borba, M., Doganova, L., Grunebaum, S., Hagendijk, R., Lynd, L., Mallard, A., Mohamed, F. A., Moors, E., Oliveira, C. C., Paterson, F., Scanga, V., Soares, J., Raberharisoa, V., & Kleinhout-Vliek, T. (2022). Social pharmaceutical innovation and alternative forms of research, development and deployment for drugs for rare diseases. Orphanet Journal of Rare Diseases, 17(1), 344. https://doi.org/10.1186/s13023-022-02476-6
10. Emanuel, E. J., & Emanuel, L. L. (1992). Physician-Patient Relationship. Journal of the American Medical Association, 267(16).
11. Encina, G., Castillo-Laborde, C., Lecaros, J. A., Dubois-Camacho, K., Calderón, J. F., Aguilera, X., Klein, A. D., & Repetto, G. M. (2019). Rare diseases in Chile: Challenges and recommendations in universal health coverage context. Orphanet Journal of Rare Diseases, 14(1), 289. https://doi.org/10.1186/s13023-019-1261-8
12. Gong, S., Li, D., & Dong, D. (2020). How Do Patients and Doctors Perceive Medical Services for Rare Diseases Differently in China? Insights from Two National Surveys. International Journal of Environmental Research and Public Health, 17(16), 5961. https://doi.org/10.3390/ijerph17165961
13. Groft, S. C., Posada, M., & Taruscio, D. (2021). Progress, challenges and global approaches to rare diseases. Acta Paediatrica, 110(10), 2711–2716. https://doi.org/10.1111/apa.15974
14. Hay, G. J., Klonek, F. E., & Parker, S. K. (2020). Diagnosing rare diseases: A sociotechnical approach to the design of complex work systems. Applied Ergonomics, 86, 103095. https://doi.org/10.1016/j.apergo.2020.103095
15. Hollin, I. L., Peay, H. L., Apkon, S. D., & Bridges, J. F. P. (2017). Patient-centered benefit-risk assessment in duchenne muscular dystrophy: Patient-Centered Benefit-Risk. Muscle & Nerve, 55(5), 626–634. https://doi.org/10.1002/mus.25411
16. Krause, M. (1995). La investigación cualitativa: Un campo de posibilidades y desafíos. Temas de educación, 7, 19–40.
17. Li, X., Zhang, X., Zhang, S., Lu, Z., Zhang, J., Zhou, J., Li, B., & Ou, L. (2021). Rare disease awareness and perspectives of physicians in China: A questionnaire-based study. Orphanet Journal of Rare Diseases, 16(1), 171. https://doi.org/10.1186/s13023-021-01788-3
18. Lopes, M. T., Koch, V. H., Sarrubbi-Junior, V., Gallo, P. R., & Carneiro-Sampaio, M. (2018). Difficulties in the diagnosis and treatment of rare diseases according to the perceptions of patients, relatives and health care professionals. Clinics, 73, e68. https://doi.org/10.6061/clinics/2018/e68
19. McMullan, J., Crowe, A. L., McClenaghan, T., McAneney, H., & McKnight, A. J. (2021). Perceptions and experiences of rare diseases among General Practitioners: An exploratory study. https://doi.org/10.1101/2021.09.07.21263025
20. Miller, E. G., Woodward, A. L., Flinchum, G., Young, J. L., Tabor, H. K., & Halley, M. C. (2021). Opportunities and pitfalls of social media research in rare genetic diseases: A systematic review. Genetics in Medicine, 23(12), 2250–2259. https://doi.org/10.1038/s41436-021-01273-z
21. Nony, P., Kurbatova, P., Bajard, A., Malik, S., Castellan, C., Chabaud, S., Volpert, V., Eymard, N., Kassai, B., Cornu, C., & The CRESim and Epi-CRESim study groups. (2014). A methodological framework for drug development in rare diseases. Orphanet Journal of Rare Diseases, 9(1), 164. https://doi.org/10.1186/s13023-014-0164-y
22. Repetto Lisboa, G. (2017). Raras pero no invisibles: ¿Por qué son importantes las enfermedades poco frecuentes y qué podemos hacer al respecto? Revista chilena de enfermedades respiratorias, 33(1), 9–11. https://doi.org/10.4067/S0717-73482017000100001
23. Schöngut-Grollmus, N., & Energici, M. A. (2021). Decisiones médicas en enfermedades raras: De su definición estadística a su comprensión social. Saúde e Sociedade, 30(2), e200393. https://doi.org/10.1590/s0104-12902021200393
24. Schöngut-Grollmus, N., Energici, M.-A., & Zuñiga, N. (2021). COVID-19 and Dispositions of the Chilean Healthcare System: Sociomedical Networks in Care Decisions of Chronic Illnesses. Frontiers in Sociology, 6, 666758. https://doi.org/10.3389/fsoc.2021.666758
25. Smits, R. M., Vissers, E., Te Pas, R., Roebbers, N., Feitz, W. F. J., Van Rooij, I. A. L. M., De Blaauw, I., & Verhaak, C. M. (2022). Common needs in uncommon conditions: A qualitative study to explore the need for care in pediatric patients with rare diseases. Orphanet Journal of Rare Diseases, 17(1), 153. https://doi.org/10.1186/s13023-022-02305-w
26. Tumiene, B., & Graessner, H. (2021). Rare disease care pathways in the EU: From odysseys and labyrinths towards highways. Journal of Community Genetics, 12(2), 231–239. https://doi.org/10.1007/s12687-021-00520-9
27. Walkowiak, D., & Domaradzki, J. (2021). Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study. Orphanet Journal of Rare Diseases, 16(1), 400. https://doi.org/10.1186/s13023-021-02023-9

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

How to cite

Schöngut-Grollmus, N., Manríquez-Castillo, F., Olivares-Marchant, N., Álvarez-Muñoz, P., & Energici, M.-A. (2025). Challenges in healthcare decision-making for rare diseases: exploring systemic heterogeneity and resource allocation in Chile. Multidisciplinary Science Journal, 7(7), 2025350. https://doi.org/10.31893/multiscience.2025350

[1] Allen, J., King, R., Goergen, S. K., Melder, A., Neeman, N., Hadley, A., & Hutchinson, A. M. (2019). Semistructured interviews regarding patients’ perceptions of Choosing Wisely and shared decision-making: An Australian study. BMJ Open, 9(8), e031831. https://doi.org/10.1136/bmjopen-2019-031831

[2] Avellaneda Fernández, A., Pérez Martín, A., Pombo Allés, G., Gutiérrez Delgado, E., & Izquierdo Martínez, M. (2012). Percepción de las enfermedades raras por el médico de atención primaria. SEMERGEN - Medicina de Familia, 38(7), 421–431. https://doi.org/10.1016/j.semerg.2012.02.011

[3] Bhattacharya, Y., Iyer, G., Kamireddy, A. P., Poornima, S., Juturu, K. K., & Hasan, Q. (2019). Rare Disease Advocacy Groups and Their Significance in Diagnosis, Management, Treatment, and Prevention of Rare Diseases. Intech Open, Online first. https://doi.org/10.5772/intechopen.88630

[4] Braun, V., & Clarke, V. (2006). Using thematic analysis in psychology. Qualitative Research in Psychology, 3(2), 77–101. https://doi.org/10.1191/1478088706qp063oa

[5] Braun, V., & Clarke, V. (2014). What can “thematic analysis” offer health and wellbeing researchers? International Journal of Qualitative Studies on Health and Well-Being, 9(1), 26152. https://doi.org/10.3402/qhw.v9.26152

[6] Budych, K., Helms, T. M., & Schultz, C. (2012). How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient–physician interaction. Health Policy, 105(2–3), 154–164. https://doi.org/10.1016/j.healthpol.2012.02.018

[7] Charles, C., Whelan, T., & Gafni, A. (1999). What do we mean by partnership in making decisions about treatment? BMJ, 319(7212), 780–782. https://doi.org/10.1136/bmj.319.7212.780

[8] Delaye, J., Cacciatore, P., & Kole, A. (2022). Valuing the “Burden” and Impact of Rare Diseases: A Scoping Review. Frontiers in Pharmacology, 13, 914338. https://doi.org/10.3389/fphar.2022.914338

[9] Douglas, C. M. W., Aith, F., Boon, W., De Neiva Borba, M., Doganova, L., Grunebaum, S., Hagendijk, R., Lynd, L., Mallard, A., Mohamed, F. A., Moors, E., Oliveira, C. C., Paterson, F., Scanga, V., Soares, J., Raberharisoa, V., & Kleinhout-Vliek, T. (2022). Social pharmaceutical innovation and alternative forms of research, development and deployment for drugs for rare diseases. Orphanet Journal of Rare Diseases, 17(1), 344. https://doi.org/10.1186/s13023-022-02476-6

[10] Emanuel, E. J., & Emanuel, L. L. (1992). Physician-Patient Relationship. Journal of the American Medical Association, 267(16).

[11] Encina, G., Castillo-Laborde, C., Lecaros, J. A., Dubois-Camacho, K., Calderón, J. F., Aguilera, X., Klein, A. D., & Repetto, G. M. (2019). Rare diseases in Chile: Challenges and recommendations in universal health coverage context. Orphanet Journal of Rare Diseases, 14(1), 289. https://doi.org/10.1186/s13023-019-1261-8

[12] Gong, S., Li, D., & Dong, D. (2020). How Do Patients and Doctors Perceive Medical Services for Rare Diseases Differently in China? Insights from Two National Surveys. International Journal of Environmental Research and Public Health, 17(16), 5961. https://doi.org/10.3390/ijerph17165961

[13] Groft, S. C., Posada, M., & Taruscio, D. (2021). Progress, challenges and global approaches to rare diseases. Acta Paediatrica, 110(10), 2711–2716. https://doi.org/10.1111/apa.15974

[14] Hay, G. J., Klonek, F. E., & Parker, S. K. (2020). Diagnosing rare diseases: A sociotechnical approach to the design of complex work systems. Applied Ergonomics, 86, 103095. https://doi.org/10.1016/j.apergo.2020.103095

[15] Hollin, I. L., Peay, H. L., Apkon, S. D., & Bridges, J. F. P. (2017). Patient-centered benefit-risk assessment in duchenne muscular dystrophy: Patient-Centered Benefit-Risk. Muscle & Nerve, 55(5), 626–634. https://doi.org/10.1002/mus.25411

[16] Krause, M. (1995). La investigación cualitativa: Un campo de posibilidades y desafíos. Temas de educación, 7, 19–40.

[17] Li, X., Zhang, X., Zhang, S., Lu, Z., Zhang, J., Zhou, J., Li, B., & Ou, L. (2021). Rare disease awareness and perspectives of physicians in China: A questionnaire-based study. Orphanet Journal of Rare Diseases, 16(1), 171. https://doi.org/10.1186/s13023-021-01788-3

[18] Lopes, M. T., Koch, V. H., Sarrubbi-Junior, V., Gallo, P. R., & Carneiro-Sampaio, M. (2018). Difficulties in the diagnosis and treatment of rare diseases according to the perceptions of patients, relatives and health care professionals. Clinics, 73, e68. https://doi.org/10.6061/clinics/2018/e68

[19] McMullan, J., Crowe, A. L., McClenaghan, T., McAneney, H., & McKnight, A. J. (2021). Perceptions and experiences of rare diseases among General Practitioners: An exploratory study. https://doi.org/10.1101/2021.09.07.21263025

[20] Miller, E. G., Woodward, A. L., Flinchum, G., Young, J. L., Tabor, H. K., & Halley, M. C. (2021). Opportunities and pitfalls of social media research in rare genetic diseases: A systematic review. Genetics in Medicine, 23(12), 2250–2259. https://doi.org/10.1038/s41436-021-01273-z

[21] Nony, P., Kurbatova, P., Bajard, A., Malik, S., Castellan, C., Chabaud, S., Volpert, V., Eymard, N., Kassai, B., Cornu, C., & The CRESim and Epi-CRESim study groups. (2014). A methodological framework for drug development in rare diseases. Orphanet Journal of Rare Diseases, 9(1), 164. https://doi.org/10.1186/s13023-014-0164-y

[22] Repetto Lisboa, G. (2017). Raras pero no invisibles: ¿Por qué son importantes las enfermedades poco frecuentes y qué podemos hacer al respecto? Revista chilena de enfermedades respiratorias, 33(1), 9–11. https://doi.org/10.4067/S0717-73482017000100001

[23] Schöngut-Grollmus, N., & Energici, M. A. (2021). Decisiones médicas en enfermedades raras: De su definición estadística a su comprensión social. Saúde e Sociedade, 30(2), e200393. https://doi.org/10.1590/s0104-12902021200393

[24] Schöngut-Grollmus, N., Energici, M.-A., & Zuñiga, N. (2021). COVID-19 and Dispositions of the Chilean Healthcare System: Sociomedical Networks in Care Decisions of Chronic Illnesses. Frontiers in Sociology, 6, 666758. https://doi.org/10.3389/fsoc.2021.666758

[25] Smits, R. M., Vissers, E., Te Pas, R., Roebbers, N., Feitz, W. F. J., Van Rooij, I. A. L. M., De Blaauw, I., & Verhaak, C. M. (2022). Common needs in uncommon conditions: A qualitative study to explore the need for care in pediatric patients with rare diseases. Orphanet Journal of Rare Diseases, 17(1), 153. https://doi.org/10.1186/s13023-022-02305-w

[26] Tumiene, B., & Graessner, H. (2021). Rare disease care pathways in the EU: From odysseys and labyrinths towards highways. Journal of Community Genetics, 12(2), 231–239. https://doi.org/10.1007/s12687-021-00520-9

[27] Walkowiak, D., & Domaradzki, J. (2021). Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study. Orphanet Journal of Rare Diseases, 16(1), 400. https://doi.org/10.1186/s13023-021-02023-9

Abstract

References

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