Genetic Alliance UK has published the final report on the Cross Party Group on Rare, Genetic & Undiagnosed Conditions highlighting our KTP project as a case study of good practice which could support the development of a future Welsh Plan for rare diseases.
The Group has heard experiences from people affected by rare conditions, patient group representatives, health care professionals and researchers over the last 18 months and the report identifies a series of recommendations which would improve the lives of people affected by rare conditions across four broad themes including Mental Health and Rare Diseases.
Professor Marianne van den Bree’s research team at Cardiff University’s Division for Psychological Medicine and Clinical Neurosciences, is committed to researching the complex needs of children with rare genetic conditions linked to neurodevelopmental differences (e.g. developmental delay, intellectual disability, ADHD and autism). This research is internationally leading.
In their UK study, over 80% of children with a rare neurodevelopmental genetic condition met criteria for a psychiatric condition. Individuals are also highly vulnerable to mental health outcomes including anxiety, mood, problems and psychosis and experience a range of developmental problems including, social difficulties, language problems, impairments in attention and planning, motor issues, sleep disturbance and seizures, which impact the child in their home life, school and interpersonal relationships.
Work published by Dr Samuel Chawner and Professor van den Bree, recently found that current diagnostic criteria for autism may miss some individuals with rare genetic conditions who have complex symptoms. You can watch an interview with Samuel Chawner here.
Many families struggle to access existing services, as health professionals outside Medical Genetics are not always aware of the needs of individuals with rare genetic conditions. There needs to be greater awareness and genomic literacy amongst health professionals; a genetic diagnosis should aid access to health support and not be a barrier.
Our Knowledge Transfer Partnership (KTP) project with Cardiff University aims to apply the team’s research findings to help facilitate access to information and psychiatric support for children. Through establishing a project Steering Group and researching potential care models to identify ways to overcome barriers faced by families and service providers when trying to access and deliver support for children, we have developed a ‘Cerebra Support Worker’ role to provide support to families. It is proposed this role would:
- Improve quality of care
- Establish much needed multidisciplinary links between existing services
- Improve cost effectiveness and sustainability of services
- Address priorities outlined in The UK Rare Diseases Framework, as well as wider UK and Wales-specific health and social care policies
The group are actively seeking support to pilot this role and are in talks with clinicians in Cardiff and Vale and within the All Wales Medical Genomics Services to consider how to progress.
Read the full report on the Cross Party Group on Rare, Genetic & Undiagnosed Conditions here.