Chamber and committees

The Scottish Government, like the rest of the UK, takes advice about all aspects of screening policy and supports implementation from the independent expert UK National Screening Committee.

We have written to the National Screening Committee to highlight this issue for their consideration and advice. The Committee will be open for submissions to consider proposals later this year.

Prenatal microarray is the test recommended by the Scottish Genetics Consortium for investigation of foetal anomaly. This would detect 22q11 deletion (DiGeorge Syndrome) as well as the vast majority of other significant chromosomal imbalances. Microarray is a standard test in the investigation of congenital anomalies in Scotland.

There is no specific treatment for 22q11 deletion (DiGeorge syndrome) as it can cause a variety of clinical conditions. Accordingly, treatment will depend on what conditions are affecting the patient, however, guidelines for the management of 22q11 deletion (DiGeorge syndrome) in Scotland has been published by the Scottish Paediatric & Adolescent Infection and Immunology National Managed Clinical Network (SPAIIN). These are available on the SPAIIN website: http://www.spaiin.scot.nhs.uk/di-george-review-guidelines/

The Scottish Government is fully committed to empowering people in terms of their health and social care. In 2014 the Scottish Implementation Plan “It’s Not Rare to Have a Rare Disease” was published.

The Rare Disease Implementation Oversight Group was created in order to monitor the progress implementation of the plan, and to ensure that the 51 Commitments in the UK Strategy for Rare Diseases are being met. On 28 February 2018, the group published the Rare Disease Scotland Progress Report. The report provides an update on the work being undertaken in Scotland, that will help improve the lives of people living with rare and genetic conditions, including DiGeorge syndrome.

The report is available on the Scottish Government website: http://www.gov.scot/Publications/2018/02/8601

It also co-incides with the second progress report from the UK Rare Disease Policy Board on the UK Rare Disease Strategy: https://www.gov.uk/government/publications/uk-rare-disease-policy-board-second-progress-report

The Ministerial Strategic Group for Health and Community Care (MSG) will be taking forward a review of progress of the Integration Authorities.

The MSG includes representation from the third and independent sectors as well as representation from Scottish Government, COSLA, NHS Boards, Local Authorities and Integration Authorities.

NHS Scotland collects and publishes information on how many quit attempts are made through formal NHS smoking cessation services each year and how many of these are successful. The data which is available is contained within the Information Services Divisions latest NHS Smoking Cessation Services Scotland 2016/17 report published in October 2017.

I am pleased that NHSScotland saw a significant decrease in the number of patients waiting over 12 weeks for a first outpatient consultation on‎ 31 March 2018 with a reduction of around 23% since 30 September 2017. I was however extremely disappointed that waiting times for first outpatient consultation for orthopaedic waiting times in Lothian have not reduced over the last year. My officials are urgently in detailed discussion with Lothian to produce a recovery plan to significantly reduce the waits time for patients requiring elective hospital care - including in the specialty of orthopaedics.

The Trauma and Orthopaedics ACCESS Programme are working with all Boards toward delivery of the 7 national commitments. This includes expanding the use of Muscoloskeletal Allied Health Professional community service with the aim of freeing up to 10,000 outpatient consultations per year as well as developing orthopaedic 'needs only' review aiming to reduce around 15,000 return outpatient appointments. These programmes will ensure that patients are seen by the most appropriate clinician nearer to home whilst freeing up hospital doctors time to see only those patients requiring hospital care and reduce waiting times.

On 28 May, I announced that an additional £50 million has been made available to reduce the number of patients experiencing long waits for hospital care in specialties such as orthopaedics. An initial £25 million has been issued to Boards - with Lothian receiving £3.7 million. A further £25 million will be issued later this year to help support Boards build upon improvement in services through the work Boards are doing with the Access Collaborative.

Following the announcement by the UK Government of the Soft Drinks Industry Levy, many drinks manufacturers completed programmes to reformulate sugary drinks to lower or zero sugar alternatives. I understand that much of this reformulation used sucralose or stevia, both sweeteners that can be safely consumed by people with phenylketonuria (PKU).

Scottish Government officials have had discussions with HM Treasury and HM Revenue and Customs about the Soft Drinks Industry Levy but the impact of those with PKU was not raised in those discussions.

The Scottish Government takes this condition seriously which is why at around 5 days old, babies are offered new-born blood spot screening to check if they have PKU or a number of other conditions. If PKU is confirmed, treatment will be given‎ straight away to reduce the risk of serious complications.

It is important that accurate labelling helps those with PKU make informed choices about their food and drink. I am advised by Food Standards Scotland that the only sweeteners that can break down to form phenylalanine are aspartame (E 951) or the salt of aspartame acesulfame (E 962). Under the food information legislation (Reg 1169/2011) any product containing these sweeteners are required to state on the label either:

• ‘contains aspartame (a source of phenylalanine)’ on the label if aspartame/ aspartame-acesulfame salt is designated in the list of ingredients only by their E number or,

• ‘contains a source of phenylalanine’ in cases where aspartame/aspartame-acesulfame salt is designated in the list of ingredients by their specific name.

The sweetener advantame (E 969) only produces very small amounts of phenylalanine and so does not need the phenylalanine labelling. This is as the European Food Safety Authority concluded “for a phenylketonuric child, the additional phenylalanine intake expected from ingestion of advantame-containing foods and beverages would represent a relatively small increment in the exposure to phenylalanine.

Clinical decisions on whether to prescribe any medicine are based on individual patient need and are a matter for the clinical judgment of the patient’s doctor in consultation with the patient, informed by advice and guidance about the medicine.

The Scottish Medicines Consortium takes a range of factors into consideration when deciding whether to accept a new medicine under review. This includes considering the clinical and health economic evidence provided by the submitting company as well as evidence submitted by patient groups to decide whether the medicine provides value for money.

Decisions made by the SMC are independent of Ministers and the Parliament.

The Scottish Medicines Consortium (SMC) currently uses the following definitions:

- End of life medicine: a medicine used to treat a condition at a stage that usually leads to death within three years with currently available treatments.

 - Orphan medicines used for very rare conditions: a medicine with European Medicines Agency designated orphan status (conditions affecting fewer than 2,500 people in a population of 5 million) or a medicine to treat an equivalent size of population irrespective of whether it has orphan status.

 - Ultra-orphan medicine: medicines for extremely rare conditions may be known as ultra-orphan medicines. SMC uses this term for medicines used to treat conditions with a prevalence of 1 in 50,000 or less (or a maximum of 100 people in Scotland).

I wrote to the Health and Sport Committee on 17 May to provide a further update on the Scottish Government’s progress in delivering the recommendations from the Review of Access to New Medicines.

I can confirm that the pharmaceutical company, BioMarin, has made a submission to the Scottish Medicines Consortium (SMC) for sapropterin (Kuvan®) for the treatment of phenylketonuria. The SMC will publish their advice in August.

Decisions made by the SMC are independent of Ministers and the Parliament.