Table 6 Policy recommendations
From: Patient pathways for rare diseases in Europe: ataxia as an example
Survey data | Diagnosis | Access to specialist services | Improve treatment and care | Address gaps in primary care services | |
|---|---|---|---|---|---|
(1) Significant proportion of participants with ataxia of unknown cause (Table 1) (2) reaching a specific diagnosis earlier is important to patients (Additional file 6: Table S6) | (1) Significant proportion of participants have never been to a SAC (Table 1) (2) the access to the SAC is challenging for people with ataxia due to transport involved (Table 2) | (1) A minority of participants accessed an MDT clinic (Table 3) (2) MDT visit was effective for most people who visited an MDT (Table 4) | (1) Participants need to have better information about treatment available for their ataxia, and a better management of their symptoms (Additional file 4: Table S4) (2) SAC can offer opportunity to take part in research (Additional file 4: Table 5) | Participants reported a lack of knowledge and understanding of ataxia from HCP primary care services (Additional file 3: Tables S3a and S3b) | |
Recommendations | Implement WGS to achieve timely genetic diagnosis | (1) Increase the access to SAC by increasing the awareness of such centres and incorporating referrals to SAC in national care pathways (2) Implement telemedicine in existing centres and increase the number of centres when possible | Increase the availability of MDT clinics. Integrate MDT clinic into the care provision by SAC | Ensure centres have an interest in translational research so treatment will be more evidence based Ensure centres have the capacity to implement management of the symptoms aside other activities | Enhanced educational packages related to the ataxias across primary care services: educational programmes on rare diseases including ataxia for GP and nurses and general HCP training including physiotherapist, SLT, OT |