Rare diseases action plan: progress report

3. Faster diagnosis

Our Action Plan outlines the importance of timely diagnosis. We know that for those living with a rare condition, getting a diagnosis is crucial in validating their experience, and understanding how they move forward with their lives, as well as informing their treatment and prognosis. Receiving a diagnosis can also open up a wealth of community-based support, as well as opportunities to take part in research which contributes to a better understanding of rare conditions. Without a diagnosis this is very difficult.

Action 1: Implementation of Genome UK

We know genomic medicine has the potential to revolutionise healthcare, especially in terms of diagnostic timescales and access to treatments for people with rare conditions. In April 2024, we launched our first ever genomic medicine strategy for Scotland. This new strategy marks the first step towards developing a world class genomic medicine service in Scotland. With a focus on Cancer and Rare and Inherited Conditions, this new five-year strategy sets out how genomics – the use of genetic information to diagnose conditions and guide treatment – can be best used in the NHS. And it will enable us to ensure that our genomic medicine service is fit for the future and can flex to meet both increasing demand and advances in the field to benefit a range of conditions.

The Scottish Strategic Network for Genomic Medicine (SSNGM) and the RDIB have forged stronger working relationships over the past year given the importance of the genomic services in Scotland to improving the diagnostic service for people with rare conditions. And the RDIB will continue to work closely with the SSNGM to ensure that the needs of people with rare conditions continue to shape the work taken forward under the new strategy.

The network has successfully launched new Scottish Genomics Test Advisory Groups for both Cancer and Rare and Inherited Disease and further information on these groups and the Scottish Genomic Test Directories is published on the SSNGM website.

The development of a Patient Involvement and Advisory Group (PIAG) for genomics has been a key objective of the SSNGM. The SSNGM Steering Group and Oversight Board have both endorsed the PIAG in order to bring together partner organisations for the benefit of patients and people with lived experience of genomic testing or services in Scotland.

The SSNGM is now working with the Clinical Genetics Forum to establish a group to assist in developing the clinical pathways for genomic healthcare in Scotland. This should improve efficiency of service development with a ‘Once for Scotland’ approach, as well as ensuring equity of access to genomic services for healthcare in all regions of Scotland.

Action 2: Newborn screening

We continue to participate in the UK National Screening Committee, which makes recommendations for all four nations. We also continue to follow guidance to ensure appropriate use of screening tools in line with UK National Screening Committee recommendation.

Action 3: Expanding the functionality of the Congenital Conditions and Rare Diseases Registration and Information Service for Scotland (CARDRISS)

The Congenital Conditions and Rare Diseases Registration and Information Service for Scotland (CARDRISS), based within Public Health Scotland, continues to develop national data and information on congenital and rare conditions.

As an initial step towards addressing national data gaps, in 2019 CARDRISS linked data from existing health datasets to produce official statistics estimating the number of babies with structural and chromosomal congenital conditions (for example, spina bifida, congenital heart disease, cleft lip, Down’s syndrome). The most recent update of these official statistics, covering babies with these conditions from pregnancies ending in 2000 to 2021, was published in late 2023.

In 2023, CARDRISS launched the new national congenital and rare condition register. The CARDRISS register works as follows:

• Existing health datasets are used to flag babies that may have a structural or chromosomal congenital condition within the register system.
• Trained registry staff then access local clinical records to confirm whether the baby does have a registerable condition and, if so, to complete a full registration record for the baby.

This will improve the quality and depth of data available on babies with congenital conditions. The CARDRISS registration team is currently registering babies from pregnancies ending in 2021. As data for 2021 accumulates, they will compare this to the official statistics previously published for 2021 to fully understand the benefits of moving from linking existing records to maintaining a validated register. In due course, official statistics based on data from the register will be published.

Finally, the CARDRISS team continue to take part in a wide range of projects including:

• The national evaluation of pregnancy screening for Down’s syndrome, Edwards’ syndrome, and Patau’s syndrome
• Developing national data on prescribing of potentially teratogenic medicines to pregnant women
• Examining long term trends in the number of babies in Scotland with neural tube defects, to inform forthcoming mandatory fortification of flour with folic acid.