The role of public health in rare diseases: hemophilia as an example

There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

Abstract

Introduction

The role of public health has evolved from addressing infectious diseases to encompass non-communicable diseases. Individuals with genetic disorders and rare diseases constitute a particularly vulnerable population, requiring tailored public health policies, practical implementation strategies, and a long-term vision to ensure sustainable support. Given the prolonged duration and significant costs often associated with these conditions, comprehensive, patient-centered, and cost-effective approaches are essential to safeguard their physical and mental well-being.

Aims

To summarize definitions and concepts related to health, public health, rare diseases, and to highlight the role of integrating public health interventions into routine care in improving patient outcomes. Hemophilia was selected as an exemplary rare disease due to its significant lifetime treatment costs and the recent approval and pricing of its gene therapy as the world’s most expensive drug, highlighting the critical importance of public health policies in ensuring equitable access to care and treatment.

Methods

A narrative literature review was conducted between July 2023 and December 2024, searching PubMed, Google Scholar, and Google for various topics related to rare diseases, public health, and hemophilia.

Results

Public health can play an important role in improving the health outcomes of people with rare diseases by implementing conceptual and applied models to accomplish a set of objectives. Over the past two decades, legislative and regulatory support in high income countries (HICs) has facilitated the development and approval of diagnostics and treatments for several rare diseases leading to important advancements. In contrast, many low- and middle-income countries (LMICs) face obstacles in enacting legislation, developing regulations, and implementing policies to support rare disease diagnosis and treatment. More investment and innovation in drug discovery and market access pathways are still needed in both LMICs and HICs. Ensuring the translation of public health policies into regulatory measures, and in turn implementing, and regularly evaluating these measures to assess their effectiveness is crucial. In the case of hemophilia, public health can play a pivotal role.

Conclusion

Enhancing public health surveillance, policies, and interventions in hemophilia and other rare diseases can bridge data gaps, support access to equitable treatment, promote evidence-based care, and improve outcomes across the socioeconomic spectrum.

Related collections

Most cited references 269

Record: found
Abstract: not found
Article: not found

The Social Determinants of Health: It's Time to Consider the Causes of the Causes

Paula Braveman, Laura Gottlieb (2014)

0 comments Cited 860 times – based on 0 reviews      Review now

Record: found
Abstract: found
Article: not found

Closing the gap in a generation: health equity through action on the social determinants of health.

Michael Marmot, Sharon Friel, Ruth Bell … (2008)

The Commission on Social Determinants of Health, created to marshal the evidence on what can be done to promote health equity and to foster a global movement to achieve it, is a global collaboration of policy makers, researchers, and civil society, led by commissioners with a unique blend of political, academic, and advocacy experience. The focus of attention is on countries at all levels of income and development. The commission launched its final report on August 28, 2008. This paper summarises the key findings and recommendations; the full list is in the final report.

0 comments Cited 749 times – based on 0 reviews      Review now

Record: found
Abstract: not found
Article: not found

WFH Guidelines for the Management of Hemophilia, 3rd edition

Alok Srivastava, Elena Santagostino, Alison Dougall … (2020)

0 comments Cited 566 times – based on 0 reviews      Review now

All references

Author and article information

Contributors

Amr A. El-Sayed: URI : https://loop.frontiersin.org/people/2764820/overviewRole: Role: Role: Role: Role: Role: Role: Role:

Ulrike M. Reiss: Role: Role: Role: Role:

Diana Hanna: URI : https://loop.frontiersin.org/people/2776482/overviewRole: Role:

Nancy S. Bolous: URI : https://loop.frontiersin.org/people/2770647/overviewRole: Role: Role: Role: Role:

Journal

Journal ID (nlm-ta): Front Public Health

Journal ID (iso-abbrev): Front Public Health

Journal ID (publisher-id): Front. Public Health

Title: Frontiers in Public Health

Publisher: Frontiers Media S.A.

ISSN (Electronic): 2296-2565

Publication date (Electronic): 20 March 2025

Publication date Collection: 2025

Volume: 13

Electronic Location Identifier: 1450625

Affiliations

[1] ¹Public Health Institute, Faculty of Health, Liverpool John Moores University , Liverpool, United Kingdom

[2] ²Medical Affairs Department, Novo Nordisk Egypt , Cairo, Egypt

[3] ³Department of Hematology, St. Jude Children’s Research Hospital , Memphis, TN, United States

[4] ⁴Department of Pediatric Hematology and Oncology, Zagazig University , Zagazig, Egypt

[5] ⁵Phoenix Clinical Research, Middle East and North Africa , Cairo, Egypt

[6] ⁶Department of Global Pediatric Medicine, St. Jude Children’s Research Hospital , Memphis, TN, United States

Author notes

Edited by: Segundo Mariz, European Medicines Agency, Netherlands

Reviewed by: Armando Magrelli, National Institute of Health (ISS), Italy

Thaisa Gois Farias de Moura Santos Lima, Ministry of Health, Brazil

Daniel Wainstock, Pontifical Catholic University of Rio de Janeiro, Brazil

*Correspondence: Amr A. El-Sayed, aasy@ 123456novonordisk.com ; dr.amr.elsayed.1983@ 123456gmail.com

^†ORCID: Amr A. El-Sayed, http://orcid.org/0009-0008-3713-237X

Ulrike M. Reiss, http://orcid.org/0000-0002-2258-3687

Diana Hanna, http://orcid.org/0000-0002-8967-273X

Nancy S. Bolous, http://orcid.org/0000-0001-6619-5291

Article

DOI: 10.3389/fpubh.2025.1450625

PMC ID: 11965367

PubMed ID: 40182514

SO-VID: f1d4b8b9-d9d0-40f5-92a1-49c8b19e22da

License:

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

History

Date received : 17 June 2024

Date accepted : 10 February 2025

Page count

Figures: 9, Tables: 2, Equations: 0, References: 315, Pages: 21, Words: 19302

Funding

The author(s) declare that financial support was received for the research and/or publication of this article. The APC of this article was covered by St. Jude Children’s Research Hospital, Memphis, TN, United States. UR and NB are funded in part by the American Lebanese Syrian Associated Charities (ALSAC).

Custom metadata

section-at-acceptance Public Health Policy

Keywords: public health,rare diseases,hemophilia,orphan drugs,health inequities,public health policy,public health surveillance,disease burden

Data availability:

Keywords: public health, rare diseases, hemophilia, orphan drugs, health inequities, public health policy, public health surveillance, disease burden