The Role of Patient Organizations in Shaping Research, Health Policies, and Health Services for Rare Genetic Diseases: The Dutch Experience
Abstract
:1. Introduction
Aims and Objectives
2. Materials and Methods
2.1. Key Methods
2.2. Material
3. Results
3.1. The Beginning—A Father’s Story
3.2. Challenges of Living with a Rare Genetic Disease: Unmet Needs and Founding a Parent/Patient Organization for Neuromuscular Diseases
- Address the knowledge gap and the lack of informed care; provide appropriate, actionable education and information for parents about home care, transportation, technical help, financial help, and recreation; and organize support by setting up mutual help groups for different neuromuscular diseases;
- Promote needs-led research, cooperation, and active involvement in the field of research and in the development of therapies;
- Generate attention and publicity to reach all involved patients and parents and to find financial resources to support (V)SN’s activities.
3.2.1. (V)SN: Early Milestones and Achievements
- Implementing standing working groups to realize home visits for advice by an experienced member plus supplementing telephone consultation to fill home visit gaps;
- Organization of a special symposium aiming at the creation of a professional structural framework for (V)SN;
- Establishing a committee to raise attention for genetic muscular diseases in the medical and scientific communities;
- Organizing regular meetings with medical experts and researchers to facilitate members’ access to state-of-the-art information, to keep members informed and updated on current research projects and on latest research findings, and, last but not least, mentoring medical experts on patients’ needs and advocating needs-led research.
3.2.2. (V)SN Involvement in Orphan Drug Development
- Contacting and lobbying manufacturers to prepare for their assessment of cost-effectiveness and reimbursement procedures in The Netherlands;
- Educating physicians and researchers with respect to their role in the admission and reimbursement of orphan drugs. (V)SN is committed as well to the management of expectations of patients with regard to gene therapy.
3.2.3. (V)SN: Newborn Screening for Spinal Muscular Atrophy (SMA)
3.2.4. (V)SN Today
3.2.5. Neuromuscular Diseases Internationally United, Networking and Partnering—From a Patients’ Initiative to Pan-European Research Institutions: Establishing the European Alliance of Neuromuscular Disorders Associations (EAMDA) and the European Neuromuscular Centre (ENMC)
3.3. Founding the First National Patient Umbrella Organization for RGDs in Europe and Shaping the Infrastructure for Genetic Services and Counseling Centres in The Netherlands
3.3.1. Shaping and Implementing Genetic Service Centres, Including Genetic Counselling Centres in The Netherlands
3.3.2. Key Steps Taken by VSOP to Promote Genetic Counselling Services and to Raise Public Awareness about Genetics
- (i) Raising public awareness, addressing “genetic illiteracy”
- (ii) Capacity building for genetic services
3.3.3. National Umbrella Patient Organizations Internationally United and Partnering
- (1)
- The European Forum for Good Clinical Practice (EFGCP, 1993), aiming at ethically sound clinical research, protecting the rights, safety, and well-being of research participants [73]. The forum provides patients with knowledge and skills to engage in drug research and development and health technology assessment, and educates researchers on how to engage with patients;
- (2)
- The European Platform for Patient Organizations, Science and Industry (EPPOSI, 1994) [74]. EPPOSI is an independent, not-for-profit, partnership-led, and multi-stakeholder think tank based in Brussels, Belgium. EPPOSI’s goal is to develop multi-stakeholder perspectives on biomedical innovations, and it is working at the “cutting edge” of European health policy-making with the overall aim of “bridging the gap between innovation and improved public health outcomes”;
- (3)
- The World Alliance of Organizations for the Prevention and Treatment of Genetic and Congenital Conditions (WAO), which was founded in 1994 on the initiative of March of Dimes (USA) to develop a perspective on genetic innovations from both the academic and patient perspectives [75]. The first meeting took place on 27 May 1995, in Berlin (Germany), with EGAN and the ESHG. WAO’s aims were formulated as follows: “Promote respect for persons with disabilities; promote protection from stigmatization of and discrimination against those affected with ’birth defects’, as well as those at risk for transmission of ‘birth defects’ to their children; increase dissemination of knowledge about prevention to parents affected” [76].
- The development of educational material about next-generation sequencing (“Next generation sequencing in diagnostiek”) for the public, patients, and healthcare providers in collaboration with Erfocentrum [100];
- Joining of the supervisory board of H2O (Health Outcomes Observatory), a European project financed by both the EU and the European Federation of Pharmaceutical Industries and Associations (EFPIA) [101]. EFPIA represents the biopharmaceutical industry operating in Europe [102]. This project is intended to provide insight into clinical data and patient-reported data for patients from different disease areas and healthcare providers via dashboards, for example, for joint decision-making [103];
- Close involvement—through support to access to empirical data- in the document “Advice from the Health Council of The Netherlands” (Gezondheidsraad) to the government in November 2023 on preconception carrier screening. The Health Council recommends pilot research to determine whether preconception carrier screening could be responsibly offered to all prospective parents in The Netherlands to equip them with the information they need to enable them to make informed reproductive decisions [104];
- Co-ordinating the input of patients and patient organizations into the Clinical Genetics Knowledge Agenda, which describes the top 10 knowledge gaps in clinical genetic care. The two overarching knowledge questions are: what barriers are in place for healthy family members who are at increased risk of a hereditary condition with treatment options to be referred for genetic counselling and possibly DNA testing, and how can the identified barriers be overcome? The agenda was published at the end of 2022 [105]. The Netherlands Association of Clinical Geneticists (VKGN) is currently exploring the possibilities for further research to address these knowledge gaps, including input from the patient perspective.
- Participation in the decision-making process to add an NIPT (Non-Invasive Prenatal Test) in April 2023 as a standard option—if the pregnant woman wishes so—in the prenatal screening program of The Netherlands [106].
4. Where We Are Today, Future Prospects, and Challenges
4.1. Challenges
4.1.1. Availability of Treatment and Costs of Cell and Gene Therapies
4.1.2. Diagnostic Odyssey and Child Mortality
4.1.3. Lack of Diversity in Genomics Studies
4.2. Limitations
5. Epilogue and the Lessons I Learned
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Poortman, Y.; Ens-Dokkum, M.; Nippert, I. The Role of Patient Organizations in Shaping Research, Health Policies, and Health Services for Rare Genetic Diseases: The Dutch Experience. Genes 2024, 15, 1162. https://doi.org/10.3390/genes15091162
Poortman Y, Ens-Dokkum M, Nippert I. The Role of Patient Organizations in Shaping Research, Health Policies, and Health Services for Rare Genetic Diseases: The Dutch Experience. Genes. 2024; 15(9):1162. https://doi.org/10.3390/genes15091162
Chicago/Turabian StylePoortman, Ysbrand, Martina Ens-Dokkum, and Irmgard Nippert. 2024. "The Role of Patient Organizations in Shaping Research, Health Policies, and Health Services for Rare Genetic Diseases: The Dutch Experience" Genes 15, no. 9: 1162. https://doi.org/10.3390/genes15091162