Rare disease: final progress report

2. Identifying and Preventing Rare Diseases

Commitments 9-10

Challenges still remain in identifying rare diseases, however with the advances in genomics and screening we are seeing improvements which are benefiting not just the patients but families and NHS Scotland too.

The Scottish Government wants everyone to receive the best possible care and treatment from our health and care services and is committed to improving the lives of people in Scotland affected by a rare genetic disease to ensure they have access to the right treatment at the right time. Having an early diagnosis means action can be taken earlier and can prevent further complications and sickness for the patient.

2.1 The National Screening Oversight Function

The National Screening Oversight Function (NSOF) was established in 2020 to ensure end-to-end performance monitoring and risk management of the entire screening pathway. It is led by a Director of Screening and reports to the Scottish Screening Committee (SSC) who lead on policy and includes NHS Board Chief Executives. Its establishment has enabled the SSC to operate at a more strategic level, offering scrutiny and assurance for Board Chief Executives. While the National Services Division Screening Team focuses more on delivery as commissioners and coordinators of the screening programmes to ensure high quality, safe, efficient and sustainable services which meet the needs of individuals, address inequalities and optimise the wellbeing of the population.

2.2 Expansion to the Scottish Pregnancy Screening Programme

Pregnancy screening is offered at various stages of pregnancy to all women in Scotland during their routine antenatal appointments. Screening aims to find out the chance of the woman or unborn child having certain health conditions at the earliest opportunity to help protect their own and their baby’s health and ensure that they receive the right support, advice and care.

In January 2016, the UK National Screening Committee (UK NSC) recommended earlier screening for Edwards’ syndrome and Patau’s syndrome, which would be delivered as part of the first trimester combined screen already offered for Down’s syndrome. They also recommended that the screening options offered for twin pregnancies be expanded to match those offered for single pregnancies. Following the review of Non-invasive Prenatal Testing (NIPT) screening in pregnancy, an evaluative rollout of NIPT as part of the pregnancy screening programme was also recommended.

In June 2018, Scottish Ministers approved the UK NSC’s three recommendations for the pregnancy and new born screening programmes, and NHS Scotland implemented them in September 2020. These changes to pregnancy screening include:

• the introduction of screening for Edwards’ syndrome and Patau’s syndrome as part of the first trimester combined screen already offered for Down’s syndrome.
• a second line test: Non-Invasive Prenatal Testing (NIPT) for those receiving a higher chance result from a first line screening test.
• updated screening options for twin pregnancies.

NIPT increases the accuracy of the result of women already identified as being at a higher-chance of having a baby with either Down’s syndrome, Edwards’ syndrome or Patau’s syndrome from the first line screening test. This should reduce the number of women subsequently undergoing diagnostic testing which carries a small risk of a test-related miscarriage.

Edwards’ syndrome and Patau’s syndrome are rare and serious genetic conditions which affect about 2 out of every 10,000 births in the UK each year. Like other pregnancy screening tests, NIPT is completely safe and will not cause harm. Women who receive a high-chance NIPT result will be offered a diagnostic test but can choose to have no further testing. Women who receive a low-chance result will not be offered diagnostic testing. NHS Scotland has rolled out NIPT for an evaluation period of at least three years.

More information on all pregnancy screening tests is available on NHS Inform. Support is available through various organisations for families whose baby has a chance of having or is diagnosed as having Down’s syndrome, Edwards’ syndrome, or Patau’s syndrome more information can be found here.

2.3 Genetic Alliance UK Rare Resources Roadshow

In 2020, Genetic Alliance UK began work to deliver a Rare Resources Roadshow across Scotland to raise awareness of rare conditions with health and social care professionals, provide access to high quality and reliable information on rare conditions and the support available for both professionals and people living with a rare condition.

The Rare Resources Roadshow has three key aims:

• Build local rare networks of people living with a rare conditions and those who support them.
• Raise awareness of rare conditions amongst health and social care professionals.
• Provide a forum for knowledge and information sharing at a local level.

To achieve this, information and networking sessions have been held across Scotland. With the support of the Highland Children and Young People’s Forum and CHIP+, a pilot session was held in Inverness with families, health and social care professionals. An online webinar was also held, providing information sessions for Highland-based paediatricians, health visitors and midwives. Feedback from the sessions has been extremely positive, with professionals reporting a better understanding of rare conditions and how to support people on their caseload who have a rare condition.

Parent quote from Rare Disease Roadshow:

Before I had my daughter we hadn’t really had to use the NHS for anything other than a few GP appointments. I now feel like I know every person and every corner of our hospital.

Due to the COVID-19 pandemic, the Rare Resources Roadshow has been suspended but will return in 2021 with a programme of information events for those living with a rare disease including, their parents and carers. Furthermore, education events for health and social care professionals and a series of local events to build rare networks across Scotland will also be organised.