IMD Scotland ANNUAL REPORT 2015/16
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1 IMD Scotland ANNUAL REPORT 2015/16 Lead Clinician: Dr Alison Cozens Programme Manager: Mandt
2 Contents Executive Summary... 1 Introduction... 1 Aim/ Purpose/ Mission Statement of Network... 2 Report against Workplan... 2 Plans for the Year Ahead... 5 Network overnance... 5 Detailed Description of Progress over Reporting Period... 6 Appendix 1: Network Membership Appendix 2: Finance... 13
3 Executive summary This report gives an overview of the key achievements of the National Managed Clinical Network for Inherited Metabolic Disorders in Scotland in the financial year 2015/16. It also describes the main work priorities for the network for 2016/17. Key achievements include a refresh of network governance arrangements and membership, development of an education strategy, developing a service specification for acute porphyria in conjunction with Specialist Screening colleagues and the further development of an IMD register using the national Clinical Audit System. IMD Scotland work priorities for 2016/17 include participation in the NSD review of IMD services in Scotland, preparation for the expansion of the newborn screening programme, a review of IMD pathways and improving the dietetic management of PKU. Introduction Inherited metabolic disorders (IMD) are a group of rare conditions, defined by the British Inherited Metabolic Disease as follows: Inherited metabolic diseases comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds. IMD Scotland was established in 2007 as a National Managed Clinical Network (NMCN) for children and young people living with an IMD. In response to the increasing numbers of adults with childhood onset IMDs who are surviving into adulthood, and those who are diagnosed with adult onset IMDs, the network has since expanded its remit to include all individuals and families affected by IMDs. The network designation objectives are: Development of specialist IMD services within Scotland to improve access to the specialist services through outreach and joint working Support for healthcare professionals in the detection, investigation and management of inherited metabolic disorders Development of standards, care pathways and protocols of care Education of healthcare professionals in the detection, investigation and management of inherited metabolic disorders Development of an audit programme for people with inherited metabolic disorders to ensure adherence to treatment standards and a high standard of outcomes Provision of education and support to people with IMD and their families, including engagement with families by the network Engagement with other professional groups to raise awareness of IMD, including education, social work and voluntary services All children with IMD across Scotland have access to specialist IMD services. These are provided in NHS reater lasgow & Clyde (C) and NHS Lothian, which provide a specialist paediatric outreach service to NHS Tayside, NHS rampian and NHS Highland, and a specialist IMD paediatric and dietetic service to NHS Borders and NHS Fife. Adults with IMD have access to specialist IMD services provided in NHS C, NHS Lothian, NHS rampian, NHS Tayside and NHS Dumfries and alloway. There are however currently no formal arrangements to define and safeguard access for patients from all Health Boards to these services. As such there is a degree of uncertainty over adult IMD service provision for Scottish patients. This is a key 1
4 consideration in the NSD review of IMD services in Scotland, which aims to assess the overall sustainability and equity of current service provision (for both adults and children with IMD) and how services should develop to meet the needs of Scottish patients. Aim/ Purpose/ Mission Statement of network The mission of IMD Scotland is to improve the diagnosis, treatment and support for all individuals and families affected by inherited metabolic disorders, wherever in Scotland they live. Report against Workplan Key priorities for IMD Scotland during 2015/16 have been as follows: a. Network overnance Network governance arrangements and membership have been renewed including the ratification of a new service level agreement and updated terms of reference for the network. A new work plan was developed to deliver on improvements in agreed key priority areas, which include: Support the expansion of newborn bloodspot screening Implementation of agreed pathways and guidelines to ensure timely access to diagnosis and safe and effective treatment for both children and adults throughout all stages of the patient journey Ensure equitable access for all patients with IMDs to appropriate specialist care that is delivered as close to home as is safe and effective Support the implementation of the rare diseases strategy Develop and deliver a revised training and education strategy and programme Increase patient engagement in the network Further develop a national patient register and capture and utilize relevant audit data Contribute to the development of proposals for a national IMD service for children and adults b. Education (1) An education strategy for IMD Scotland was ratified by the NMCN in December This describes the key requirements for both patient/carer and healthcare professional education and the role of IMD Scotland and its members in delivering education to meet those requirements. The strategy is available on the IMD website. (2) An acute porphyria study day was organised by the network in October 2015 to update a broad range of Scottish clinicians and laboratory staff on current practice and service provision in the UK as a whole, in particular the National Acute Porphyria Service (NAPS). Patient representatives from the British Porphyria Association provided an overview of the patient experience and a description of patient needs from an effective acute porphyria service. The study day has subsequently informed NSD commissioning of a new national acute porphyria service for Scotland (please see section 2d.) (3) A Scottish Inherited Metabolic Disease (SIMDI) education day is organised for Friday 13 May 2016 in Stirling with speakers from across the UK providing education on a range of specialist topics in IMDs. c. Communication and Engagement (1) IMD Scotland agreed a new communications plan and updated its website as the central hub for IMD information and network communication to the full range of network stakeholders, including relevant healthcare professionals and people with IMDs and their families. Key information about the network has been updated and additional work to develop the website further, in particular a move to a different hosting platform (WordPress), will continue in 2016/17. (2) Plans have been developed for an engagement event to hear the views of people with IMDs and their families about IMD services for children and adults. For logistical reasons this event has had to be 2
5 postponed until September This event will then also form part of the patient engagement work of the NSD review of IMD services in Scotland, which is due to report at the end of d. Service Development (1) Acute Porphyria National Service In partnership with colleagues in the National Specialist and Screening Services Directorate (NSD), a specification and pathway for a nationally commissioned acute porphyria service was developed. This has now been agreed and is being implemented. As described under section 2b., the network organised an acute porphyria study day for Scotland, which provided a forum for broad stakeholder input including patient involvement - into the development of the service specification. (2) National Review of IMD Services IMD Scotland is a major stakeholder in the aforementioned NSD review of IMD services which starts in April IMD Scotland has collated key information on current service provision and gaps for adults and children with IMD in Scotland. This will form a key part of evidence gathering for the review. (3) Emergency Medications A review of emergency medications and the key locations where they should be kept across Scotland was started, with a view to developing a proposal to include these in the rarely used medicines (RUM) lists. This will provide a more robust and sustainable platform for ensuring ready availability of these medications. The discussion about the exact list of medications and locations is expected to conclude in quarter 1 of 2016/17. (4) Newborn Screening IMD Scotland has begun preparatory work on clinical and laboratory protocols and pathways in anticipation of the implementation of the expanded newborn screening programme, which was agreed in principle by the Scottish overnment in autumn e. Data / Audit (1) IMD Register IMD Scotland is now using the Clinical Audit System (CAS) as a national IMD register. Currently, 1,019 people in Scotland are recorded on the register. This includes 525 adult patients (aged 18 and older) and 494 children (aged 0 to 17). However, these numbers, in particular the adult figures, are likely to be an underestimate due to ongoing issues with data quality and completeness of recording. Addressing these issues continues to be a key part of IMD Scotland s work plan. The charts below shows a comparison of the distribution of people with IMD on the register across Scottish health boards against each health board s share of the total population of Scotland. The larger health boards such as NHS C and NHS Lothian account for a greater than expected share of the IMD population on the register whereas other health boards, most notably NHS rampian, account for a smaller than expected share of the Scottish IMD population on the register. This is likely a result of 3
6 differences in recording and ascertainment, rather than a reflection of genuine differences in prevalence in these health board areas. (2) Quality Indicators for Newborn Screening Data on the performance of the newborn screening programmes for PKU and MCADD is collated by the national newborn screening laboratory in lasgow and the network clinical teams. This informs reporting against a number of clinical quality indicators that have been developed to describe the quality of clinical care for new patients identified through PKU and MCADD screening. In 2015/16 the performance against these quality indicators was as follows: (2.1.) MCADD Quality Indicator 1: Percentage of babies detected by the newborn bloodspot screening programme who have received the IMD Scotland MCADD Information Pack within 24 hours of notification of the positive screening result (Standard is 100%). Quality Indicator 2: Percentage of babies detected by the newborn bloodspot screening programme who have had clinical follow-up within 24 hours of notification of the positive screening result (Standard is 100%). Quality Indicator 3: Percentage of babies detected by the newborn bloodspot screening programme who have had a definite biochemical diagnosis of MCAD deficiency confirmed within 5 working days of notification of the positive screening result (Standard is 100%). One new baby was identified through MCADD screening in 2015/16 with appropriate clinical follow-up and subsequent diagnosis of MCADD in accordance with the three MCADD quality indicators. Table 1 below gives MCADD screening number over the last three years, indicating that 2015/16 screening rates are consistent with previous years. MCADD Screening 2013/ / /16 Screened positive Confirmed MCADD diagnosis Non-MCADD Table 1: MCADD Screening (2.2) Phenylketonuria (PKU) Quality Indicator 1: Percentage of babies detected by the newborn bloodspot screening programme with probable PKU who have been commenced on treatment by 14 days of age (Standard is 100%). Quality Indicator 2: Percentage of babies detected by the newborn bloodspot screening programme with probable PKU who have had bloodspot DHPR and pterins measured at diagnosis (Standard is 100%). Six babies screened positive for PKU in 2015/16 of whom two were subsequently confirmed to not have PKU. All four babies with a confirmed diagnosis of PKU were commenced on appropriate treatment by 14 days of age. PKU Screening 2013/ / /16 Screened positive Confirmed PKU diagnosis PKU on treatment by 14 days Non-PKU Table 2: PKU Screening
7 Plans for the year ahead Key priorities for 2016/17: Participation in the IMD service review to develop effective service delivery models for Scotland and explore the feasibility of nationally commissioned services for IMD Preparation for the implementation of the expanded newborn screening programme, increasing the number of screened-for IMD from two to six, in line with UK screening recommendations. Further development of the IMD register, including implementation of a new classification of diagnoses and improvement in overall data quality and completeness of recording. Review of existing pathways to ensure they are up to date and fit for purpose, including collaboration with the Scottish Paediatric Endocrine Network on a joint hypoglycaemia protocol Improvements in dietetic management of PKU Service evaluation of familial hypercholesterolaemia care in Scotland Key risks for IMD Scotland in 2016/17: With the retirement in June 2016 of one of the two Consultants in Paediatric Inherited Metabolic Medicine, which will leave two of three Consultant specialist posts in Scotland vacant, there will be significant loss of specialist medical input to the network. In particular, this puts at risk the input of the IMD Scotland Lead Clinician due to greater competing clinical demands as the only remaining Consultant in Paediatric Inherited Metabolic Medicine in Scotland. Steps are being taken by NHS reater lasgow and Clyde to fill the existing vacancies and the retiring Consultant will provide limited locum cover in the interim. The situation is being monitored by the network to respond to any impact on the network itself if a long-term solution to these staffing issues is not found. Network governance Throughout 2015/16 IMD Scotland has re-established core governance structures to ensure it operates effectively as a nationally commissioned MCN in line with the Scottish overnment s core principles for MCNs 1 and delivers on its agreed aims and objectives. This has included the development and ratification of a new service level agreement for ; new terms of reference; revised, wider multi-disciplinary membership from all Scottish services; as well as a new communications plan. 1 See CEL (2012) 29 for the most recent statement of these principles: 5
8 Detailed Description of Progress over Reporting Period Strategic Objective 1. Revise MCN governance arrangements: service agreement, terms of reference and membership. Linked Dimensions of Quality Planned end dates Lead 3, 4 30/9/2015 Mandt; Description of progress towards meeting objective Service agreement, terms of reference and membership were agreed at the Board meeting on 21/8/2015. Outcome / evidence Minutes and relevant documentation available from NMCN Programme Manager. RAB status B 2. Support the expansion of the newborn screening programme 3. Develop and implement an IMD education strategy and programme a) Develop an IMD education strategy b) Deliver a SIMDI meeting in early , 2, 3, 4, 5, 6 31/3/2016 Alison Cozens; Peter Robinson 2, 3, 31/3/2016 a) Mandt; Alison Cozens b) Peter alloway; Barbara Cochrane Alison Cozens on membership of screening steering group. Scot ov agreement in principle to expand. English documentation being assessed for possible adoption in Scotland. a) Meeting being arranged for November to analyse learning needs and agree plans to address these appropriately. b) SIMDI meeting being arranged for 13 May 2016 in Stirling Awaiting further feedback about implementation plan and deadlines Education Strategy agreed and now available on the IMD website. SIMDI meeting arranged for 13 May. Programme being finalised. A B 4. Develop referral pathways for the diagnosis of IMD to improve communication and facilitate timely access to appropriate diagnostic and clinical 1, 2, 3, 4, 5, 6 31/3/2016 Alison Cozens; Peter alloway Pathways discussed at in Feb Agreement that key issue for improving access to diagnostic and clinical services is availability of relevant laboratory and clinical contact details. Decision to review contact information provision. The NSD review of IMD services will also B 6
9 Strategic Objective Linked Dimensions of Quality Planned end dates Lead Description of progress towards meeting objective Outcome / evidence RAB status services: a) Fabry Disease b) Wolman s Disease address the interface of specialist and non-specialist services. 5. Support the implementation of the national Rare Diseases strategy in relation to IMD: a) Patient pathway for acute intermittent porphyria b) Stakeholder event to discuss Scottish porphyria services 1, 2, 3, 4, 5, 6 31/3/2016 Alison Cozens a) Pathway finalised as part of national service specification. b) Porphyria study day on 28 Oct 2015 in lasgow, incl input from NAPS, NSD and the BPA. National service for acute porphyria commissioned. B 6. Host a patient / carer / 3 rd sector engagement event to identify patient / carer expectations of IMD care and IMD services 1, 6 31/3/2016 ; Mandt Focus on patient/ family engagement through the various voluntary sector organisations in IMD list of invitees being collated. Aim to host event in April / May Contacted third sector organisations who responded positively to suggestion of meeting. Proposed date in May not suitable postponed until after summer holidays. Carried forward to 2016/17. A 7. Ensure accuracy and currency of IMD information for patients / families and healthcare professionals on the IMD website 1, 4, 5, 6 31/1/2016 ; Mandt IMD website content has been updated. More detailed website development is on hold subject to the ongoing review of all NHS NSS web sites. Initial update of IMD Scotland website completed but there will be an ongoing need for periodical review / revision of the website as part of network core business. B 8. Develop a Scottish patient register for IMD 2, 3, 4, 5, 6 31/3/2016 ; Updated patient lists collated and being processed on the CAS. Data quality queries to 7 Scottish IMD patient register created on CAS. Ongoing work beyond March 2016 B
10 Strategic Objective Linked Dimensions of Quality Planned end dates Lead Description of progress towards meeting objective Outcome / evidence RAB status Mandt be followed up with local services. to improve data quality. Carried forward to 2016/ Scope out options for developing national audit standards / quality indicators for IMD 10. Explore improvements in dietetic advice and management for IMD patients across Scotland: a) Review provision of dietetic advice and education b) Explore ways of improving primary care prescribing of dietary supplements 11. Review the provision of emergency medication 2, 3, 5, 6 31/3/2016 ; Mandt 1, 2, 3, 4, 5, 6 31/3/2016 Barbara Cochrane 2, 3, 4, 5, 6 31/3/2016 Stephen Bowhay Audit of IMD patient register data discussed: limited to demographic and diagnostic information. Need to identify additional data sources for more indepth audit. Ongoing capacity issues re data collection. Local quality improvement project on prescribing in C with learning to be shared across network for possible wider application. Intention to audit current practice against new NSPKU guidelines once they are published. Pursuing inclusion of IMD emergency medications in national RUUM list to ensure availability and ongoing funding by health boards Discussion about suitable data sources and relevant audit is ongoing. Carried forward to 2016/17. Results from NHS C pilot not available until early 2016/17. Publication of NSPKU guideline delayed. Carried forward to 2016/17. Draft list of emergency medications identified. Discussion still ongoing about key locations for each medication. Carried forward to 2016/17. A A A 8
11 Detailed Description of Work Programme for 2016/17 Objective Number Smart Objective Linked Dimension s of Quality Planned start/ end dates Detailed Plan Available / Owner Description of progress towards meeting objective as at 31/03/2016 Anticipated Outcome RAB status Participate in the NSD review of IMD services in Scotland 1, 2, 3, 4, 5, 6 1/4/ /12/2016 Sustainable service model(s) for IMD services in Scotland Strategic planning: Compile a service map of current services for IMD in Scotland 2, 3, 4, 5, 6 1/4/2016 7/4/2016 Clarity on current service provision and gaps IMD register(s): Maintain a Scottish register Explore options to participate in relevant UK / international registers 2, 3, 4, 5, 6 1/4/ /3/2017 ; Alison Cozens Understanding of Scottish IMD cohort and its distribution Understanding the opportunities for Scottish patients to be part of international registers and their benefits IMD data: Explore possibility of reporting against NHS England dashboard for IMD services 2, 3, 5, 6 1/8/ /12/2016 Demonstrate quality of care provided / enable quality improvement measures to be taken forward Service evaluation of the management of children identified with FH: 'Familial 2, 3, 4, 5, 6 1/4/ /3/2017 Alison Cozens; Susan Increased understanding of effectiveness of FH 9
12 Objective Number Smart Objective Linked Dimension s of Quality Planned start/ end dates Detailed Plan Available / Owner Description of progress towards meeting objective as at 31/03/2016 Anticipated Outcome RAB status hypercholesterolaemia in Scottish children: effectiveness of the cascade screening programme and barriers to effective implementation' McMahon care Agree network position on pathways / protocols for diagnosis and management of IMDs covered in the expanded newborn screening (NBS) programme IMD education: Hold annual SIMDI meeting 1, 2, 3, 4, 5, 6 1/12/ /9/2016 2, 3, 1/4/ /5/2016 Peter alloway; Mandt Readiness of clinical and laboratory IMD services for implementation of expanded NBS programme Increased knowledge in IMD for relevant healthcare professionals in Scotland Review and update existing IMD pathways and protocols 1, 2, 3, 4, 5, 6 1/8/ /3/2017 Peter Robinson; Pathways & Protocols Working Up to date guidance for healthcare professionals in Scotland 10
13 Pilot IMD case review to identify and address learning points from good practice and critical incidents across Scotland Host a patient / 3 rd sector engagement event to ascertain patient / carer expectations of IMD services 2, 3, 4, 5, 6 1/4/ /03/2017 1, 6 1/4/ /09/2016 Alison Cozens; Mandt Mandt; Alison Cozens Inform initiatives to improve the quality of IMD care Patient and carer engagement in developing services to best meet their needs Develop the IMD website as a central repository of high quality information on IMD for patients / families and healthcare professionals 1, 4, 5, 6 1/4/ /12/2016 Mandt; Improved access to relevant information for patients, the public and healthcare professionals Improve dietetic management of PKU: (a) Update PKU parents pack (b) Establish need for education events (c) Review new international PKU guidelines for adoption in Scotland Review outcomes of low protein prescribing pilot in C with a view to roll out across Scotland 1, 2, 3, 4, 5, 6 1, 2, 3, 4, 5, 6 1/4/ /3/2017 1/4/ /9/2016 ; Dietitians Barbara Cochrane; Consistent, high quality patient education/support; identification of current areas of good practice and issues for improvement Improved patient access to low protein foods / more efficient process for prescribers 11
14 Appendix 1: Network membership (2015/16) Name Designation Health Board Area Sarah Adam Specialist Metabolic Dietitian reater lasgow and Clyde Fiona Brandie Clinical Scientist rampian Mike Bissett Clinical Director, North of Scotland Regional rampian Planning Stephen Bowhay Lead Clinical Pharmacist reater lasgow and Clyde Carol Cameron Specialist Metabolic Nurse rampian Leigh Campbell Principal Clinical Biochemist Lothian Barbara Cochrane Specialist Metabolic Dietitian reater lasgow and Clyde Alison Cozens Consultant in Paediatric Inherited Metabolic Lothian Medicine / IMD Scotland Lead Clinician Sheila Dawson Specialist Metabolic Dietitian Lothian Kevin Deans Consultant Chemical Pathologist rampian Carolyn Dunlop Specialist Metabolic Dietitian reater lasgow and Clyde Sally Egan Child Health Commissioner (chair) Lothian eorge Farmer Consultant Paediatrician Highland Peter alloway Consultant Biochemist (Medical) reater lasgow and Clyde Alice Jollands Consultant Paediatric Neurologist Tayside Sheena Kinmond Consultant Paediatrician Ayrshire and Arran Utkarsh Kulkarni Consultant Physician rampian Karen Lang Specialist Metabolic Dietitian Tayside Michelle Lewis Paediatric Dietitian Ayrshire and Arran Mandt Programme Manager, National Network National Services Scotland Management Service Pauline McEachen Specialist Metabolic Nurse Tayside Susan McMahon Specialist Metabolic Nurse reater lasgow and Clyde Catherine McWilliam Consultant Clinical eneticist Tayside Lynsey Muir Dietitian rampian Michelle Nimmons Paediatric Dietitian Highland Lesley Robertson Service Lead Paediatric Dietetics Lothian Peter Robinson Consultant in Paediatric Inherited Metabolic reater lasgow and Clyde Medicine Kathleen Ross Senior Paediatric Dietitian rampian Judith Strachan Consultant Biochemist (Clinical) Tayside Carole Thomson Programme Support Officer, National National Services Scotland Network Management Service Lucy West Advanced Acute Care Dietitian rampian Fiona Wire Specialist Paediatric Dietitian Lothian 12
15 Appendix 2: Finance The annual budget for IMD Scotland network expenditure (not including staffing costs) is 5,000. Spending against this budget for 2015/16 was 3,289, which covered venue hire, catering and external speaker s expenses for IMD meetings and events such as the Acute Porphyria study day. 13
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