Optimizing Healthcare Delivery for Patients with Rare Genetic Disorders in Low-Resource Settings
Keywords:
Rare Genetic Disorders, Healthcare DeliveryAbstract
Purpose: This study examines the factors influencing healthcare delivery for patients with rare genetic disorders in low-resource settings, focusing on the availability of diagnostic tools, treatment options, specialized care, and healthcare provider experience.
Subjects and Methods: Utilizing a quantitative research design, the study analyzed data collected from healthcare providers and patients in resource-constrained areas.
Results: The findings reveal that greater availability of diagnostic tools (r = 0.55), treatment options (r = 0.47), and specialized care (r = 0.62) are positively associated with improved patient outcomes. Healthcare provider experience also showed a positive correlation (r = 0.36) with patient outcomes, although weaker. Furthermore, barriers such as financial constraints (χ² = 14.23, p < 0.01), lack of training and knowledge (χ² = 13.85, p < 0.01), and cultural factors (χ² = 10.67, p < 0.05) significantly affect healthcare delivery effectiveness. Regression analysis confirmed that the availability of diagnostic tools (β = 0.28), specialized care (β = 0.31), and healthcare provider experience (β = 0.18) are strong predictors of healthcare delivery effectiveness. The study addresses a gap in the literature by offering evidence on how resource availability and provider experience influence outcomes for rare genetic disorder patients in low-resource environments.
Conclusions: These findings underscore the need for targeted interventions to improve healthcare infrastructure and provider training to enhance care for this vulnerable patient population.
References
Abdallah, S., Sharifa, M., Almadhoun, M. K. I. K., Khawar Sr, M. M., Shaikh, U., Balabel, K. M., ... & Kanwar Sr, M. (2023). The impact of artificial intelligence on optimizing diagnosis and treatment plans for rare genetic disorders. Cureus, 15(10). https://doi.org/10.7759/cureus.46860
Abu-Odah, H., Molassiotis, A., & Liu, J. (2020). Challenges on the provision of palliative care for patients with cancer in low-and middle-income countries: a systematic review of reviews. BMC palliative care, 19(1), 55. https://doi.org/10.1186/s12904-020-00558-5
Alderwick, H., Hutchings, A., Briggs, A., & Mays, N. (2021). The impacts of collaboration between local health care and non-health care organizations and factors shaping how they work: a systematic review of reviews. BMC public health, 21(1), 753. https://doi.org/10.1186/s12889-021-10630-1
Au, L., Capotescu, C., Eyal, G., & Finestone, G. (2022). Long covid and medical gaslighting: Dismissal, delayed diagnosis, and deferred treatment. SSM-Qualitative Research in Health, 2, 100167. https://doi.org/10.1016/j.ssmqr.2022.100167
Bautista-Gómez, M. M., & van Niekerk, L. (2022). A social innovation model for equitable access to quality health services for rural populations: a case from Sumapaz, a rural district of Bogota, Colombia. International Journal for Equity in Health, 21(1), 23. https://doi.org/10.1186/s12939-022-01619-2
Best, S., Vidic, N., An, K., Collins, F., & White, S. M. (2022). A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease. European Journal of Human Genetics, 30(6), 645-652.
Carstairs, S. A., Rogowsky, R. H., Cunningham, K. B., Sullivan, F., & Ozakinci, G. (2020). Connecting primary care patients to community-based physical activity: a qualitative study of health professional and patient views. BJGP open, 4(3). https://doi.org/10.3399/bjgpopen20X101100
Chung, C. C. Y., Hong Kong Genome Project, Chu, A. T. W., & Chung, B. H. Y. (2022). Rare disease emerging as a global public health priority. Frontiers in public health, 10, 1028545. https://doi.org/10.3389/fpubh.2022.1028545
Domaradzki, J., & Walkowiak, D. (2021). Knowledge and attitudes of future healthcare professionals toward rare diseases. Frontiers in Genetics, 12, 639610. https://doi.org/10.3389/fgene.2021.639610
Doucet, J. R., Fournier, T. A., Bishop, C. M., Gaudet, D. J., & Nagel, D. A. (2021). Pilot of a community-based interprofessional “student-infused” pulmonary rehabilitation program in Saint John, New Brunswick. Canadian Journal of Respiratory Therapy: CJRT= Revue Canadienne de la Therapie Respiratoire: RCTR, 57, 26. https://doi.org/10.29390/cjrt-2020-053
Dumbuya, J. S., Zeng, C., Deng, L., Li, Y., Chen, X., Ahmad, B., & Lu, J. (2025). The impact of rare diseases on the quality of life in paediatric patients: current status. Frontiers in Public Health, 13, 1531583. https://doi.org/10.3389/fpubh.2025.1531583
Germain, D. P., Moiseev, S., Suárez‐Obando, F., Al Ismaili, F., Al Khawaja, H., Altarescu, G., ... & Kutsev, S. (2021). The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease. Molecular genetics & genomic medicine, 9(5), e1666. https://doi.org/10.1002/mgg3.1666
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
Hromić-Jahjefendić, A., Barh, D., Ramalho Pinto, C. H., Gabriel Rodrigues Gomes, L., Picanco Machado, J. L., Afolabi, O. O., ... & Lundstrom, K. (2022). Associations and disease–disease interactions of COVID-19 with congenital and genetic disorders: a comprehensive review. Viruses, 14(5), 910. https://doi.org/10.3390/v14050910
Hurvitz, N., Azmanov, H., Kesler, A., & Ilan, Y. (2021). Establishing a second-generation artificial intelligence-based system for improving diagnosis, treatment, and monitoring of patients with rare diseases. European Journal of Human Genetics, 29(10), 1485-1490.
Hus, Y., & Segal, O. (2021). Challenges surrounding the diagnosis of autism in children. Neuropsychiatric disease and treatment, 3509-3529. https://doi.org/10.2147/NDT.S282569
Kruse, J., Mueller, R., Aghdassi, A. A., Lerch, M. M., & Salloch, S. (2022). Genetic testing for rare diseases: a systematic review of ethical aspects. Frontiers in Genetics, 12, 701988. https://doi.org/10.3389/fgene.2021.701988
Madhu, N. R., Biswas, G., Paul, S., Adhikari, S., Sarkar, B., Rafeeq, M. M., & Umair, M. (2024). Challenges and Future Opportunities in Rare Genetic Disorders: A Comprehensive Review. Rare Genetic Disorders: Advancements in Diagnosis and Treatment, 251-275. https://doi.org/10.1007/978-981-99-9323-9_9
Martanto, A. (2025). Analisa Faktor Penyebab dan Mitigasi Risiko Pada Proyek Konstruksi dengan Metode SEM & FTA (Studi Kasus: Pembangunan Gedung Ibu dan Anak Terpadu RS Sardjito) (Doctoral dissertation, Universitas Islam Indonesia).
Nguyen, M., Waller, M., Pandya, A., & Portnoy, J. (2020). A review of patient and provider satisfaction with telemedicine. Current allergy and asthma reports, 20(11), 72. https://doi.org/10.1007/s11882-020-00969-7
Okpechi, I. G., Bello, A. K., Luyckx, V. A., Wearne, N., Swanepoel, C. R., & Jha, V. (2021). Building optimal and sustainable kidney care in low resource settings: the role of healthcare systems. Nephrology, 26(12), 948-960. https://doi.org/10.1111/nep.13935
Stranneheim, H., Lagerstedt-Robinson, K., Magnusson, M., Kvarnung, M., Nilsson, D., Lesko, N., ... & Wedell, A. (2021). Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients. Genome Medicine, 13(1), 40. https://doi.org/10.1186/s13073-021-00855-5
Van Zyl, C., Badenhorst, M., Hanekom, S., & Heine, M. (2021). Unravelling ‘low-resource settings’: a systematic scoping review with qualitative content analysis. BMJ global health, 6(6).
Zeydani, A., Atashzadeh-Shoorideh, F., Hosseini, M., & Zohari-Anboohi, S. (2023). Community-based nursing: a concept analysis with Walker and Avant’s approach. BMC Medical Education, 23(1), 762. https://doi.org/10.1186/s12909-023-04749-5
Downloads
Published
Issue
Section
License
Copyright (c) 2025 Nufarcal: Medical and Health Sciences
This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.
