Rare disease: final progress report

Recognising success

Since the introduction of the Strategy in 2013 there have been 3 key flagship deliverables. More detail on these can be found in the chapters in the report.

√ The Congenital Anomalies Register (CARDRISS)

CARDRISS once fully established, will register babies affected by a major structural or chromosomal anomaly or recognised syndrome.

What does this mean for rare disease patients?

While the Congenital Anomalies Register is still being developed we have already seen a great benefit just by linking historical datasets to provide, for the first time in Scotland a record of congenital anomalies.

The dataset and the register are beginning to help inform the planning of services for individuals and families affected by congenital anomalies and rare diseases. Even more so once the Register is live, it will also allow NHS Scotland to support the prevention of anomalies where possible, understand the impact of antenatal screening and support research into these conditions.

√ The Bridge to a Scottish Strategy for Genomics

Advancement of the strategy was driven by our partners in NHS Services Scotland National Services Division, the strategy supports the transition of genomic testing for inherited rare disease from the research setting into regular genetic testing services provided by the NHS in Scotland.

What does this mean for rare disease patients?

Scottish physicians and scientists have made world-leading contributions to research on rare disease genetics and genomics; and a well-established network of clinicians and clinical scientists have been delivering evidence-based genetic testing for NHS Scotland (NHSS) patients for over thirty years. Continuing advancements in genomics medicine improves a range of factors for rare disease patients included, diagnosis, access to treatment and co-ordination of care.

√ The Rare Disease Forum

The UK Wide Rare Disease Forum was hosted by Scotland in November 2019. The Forum is made up of a wide range of rare disease stakeholders including patients themselves, third sector organisations and clinicians.

What does this mean for rare disease patients?

The Forum heard presentations from a range of healthcare professionals, patient
organisations and those affected by rare disease. The outcomes from these discussions,
and breakout sessions and evidence gathered, will feed into the development of the next iteration of the Rare Disease Strategy post 2020 and more specifically Scotland’s own Action Plan. The Forum highlights the need for ongoing collaboration between patients and policy makers in order to ensure policies truly reflect the needs of rare disease patients.