Table 1 Identification of challenges to address and gaps to bridge for a more effective involvement of people living with a rare disease condition in healthcare and medical research (PO: patient organization, SDM: Shared decision making, EUPATI: European Patients’ Academy on Therapeutic Innovation, NMD: neuromuscular disease)
Educational changes | Cultural changes | Structural changes | |
|---|---|---|---|
A. Genetic testing and screening/diagnosis | • Empower patients and train them on the challenges of genetic testing or screening programs • Identify leaders who can take the role on specific initiatives • Teach patients and parents to ask the right questions • Avoid making decisions at an individual level, but rather opt for groups to get together at either national or European levels to move things forward • Set up support groups • Launch surveys in the patient population. | • Map the best practices from the different countries and share results • Explore the experience of POs in other rare disease fields • Have a proactive, forward looking approach to upcoming therapeutic options, and take actions according to the opportunities ahead • Stimulate peer-to-peer discussion, create awareness together with the existing POs • Inform patients/families about the existence of POs of reference. | • Create more dialogue with POs, involve patients or PO representatives before implementing screening (why, when, definition of the type of support) • Set up a diagnosis/screening group involving the experts and the disease-specific POs • Train doctors on SDM regarding how best to create dialogue and involve patients • Proactively stimulate workshops about this topic. |
B. Transition childhood-adulthood | • Educate physicians, healthcare practitioners, young people, parents, care-givers on SDM • Provide unbiased, validated information on diagnosis, treatment options, sexuality, family planning and life choices • Involve young people and POs as experts to understand educational needs and develop fitting materials (co-creation) • Use appropriate language: right level of difficulty and “people living with....” instead of “patients with...” • Coach all persons involved and create ambassadors among patients, parents and caregivers to show the value of behavioural changes. • Facilitate support by peers and the patient communities to exchange experiences and information. | • Focus on life goals instead of disease management only • Progressively involve children in decision making and facilitate their conversation with physicians (even without parents) • Address patients as a person not as their disease’s needs only • Promote increase in social participation • Enable patients to live independently (in the family, at school, at work) and become autonomous adults • Increase awareness of employability of young people with NMD • Raise confidence and self-esteem of young patients, involve them in team sports and encourage a network of friends. | • Establish specialized centres for paediatric to adult care with multi-disciplinary teams to develop expertise and understand more of the natural history, also learning from other rare diseases • Include young people in the design of services • Use influence and implementation power of organisations like EURORDIS, European Patient Forum, EUPATI • Develop (international) standards of care guidelines for transition and adult care, including the use of SDM • Implement transition programmes • Establish financial support for transition programmes and patient advocate groups • Health insurances, funders and governments to cover costs for all-inclusive (regardless of physical disability) social participation programmes (e.g. summer camps) and decision aids and tools. • Stimulate a dedicated workshop to this topic. |
C. Research with impact on quality of life | • Inform about centers of expertise where patients may receive adequate information • Consider challenges in SDM: - Personal barriers (age, communication skills, information gaps on technical terms) - Misinformation in the lay communication and social media - Indirect SDM mediated by the caregiver’s vision and interaction. | • Patients’ interests can create a change the way society works • The introduction of patient panels in commissions and advisory boards may go through pilot rounds to provide evidence of their usefulness • Patient groups’ contribution to clinical study design may positively impact on regulatory agencies’ evaluation of clinical studies. | • Encourage patient-close research, explore patients preferred measurements as new tools • Reserve more time to set research plans with involvement of patients opinion; physician-patient interaction should be based more on the person than on the disease • Train next physician generation in SDM as common practice. |