National Metabolic Biochemistry Network (MetBioNet) Minutes of Stakeholder Meeting Friday 27 th April 2018, Birmingham Children s Hospital
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1 National Metabolic Biochemistry Network (MetBioNet) Minutes of Stakeholder Meeting Friday 27 th April 2018, Birmingham Children s Hospital Present: Helena Kemp (HK) Bristol, Southmead (Chair) Claire Hart (CH) Sheffield Ann Bowron (AB) Newcastle (Secretary) Vicki Warburton (VW) Bristol, BRI Joanne Croft (JC) Sheffield (Treasurer) Donna Fullerton (DF) Nottingham Mary Anne Preece (MAP) Birmingham Jane McNeilly (JM) Glasgow Helen Aitkenhead (HA) London, GOSH Leigh Campbell (LC) Edinburgh June Petty (JP) Manchester (BMS group) Rachel Carling (RC) London, Viapath Lis Smith (LS) Liverpool (BMS group) Stuart Moat (SM) Cardiff Catherine Collingwood (CC) Liverpool Rob Barski (RB) Leeds Sarah Hogg (SH) 1 Apologies for absence Cambridge Jennifer Cundick (JCu) Belfast Mick Henderson (MH) Leeds/Manchester Camilla Scott (CS) Sheffield Patricia Fitzsimons (PF) Dublin Jim Bonham (JB) Sheffield Teresa Wu (TW) Manchester 2 Minutes of meeting held on 14 th November 2017 Corrections: Page 1, RC was not present at the meeting and had sent apologies. Page 5, SH who attended the Metabolic Disorders CRG refers to Simon Heales, not to Sarah Hogg. The minutes were otherwise accepted as a true record of the meeting. HK paid tribute to Dr Jane Dalley, Clinical Scientist from Sheffield Children s Hospital, who sadly passed away last December. She made a significant contribution to MetBioNet, both directly and via her work with ERNDIM and is greatly missed. A collection is being taken in her memory for a bench to be placed in the park opposite the children s hospital and for the Anthony Nolan Trust. 3 Action Log See table below for outstanding actions 4 Matters arising not on the agenda None 5 New items 5.1 NHSI As part of the STP Programme, NHS Improvement has proposed setting up 29 Pathology Hubs in England. Phase 2 of the project was announced in December 2017 and included proposals around pathology services in specialist paediatric hospitals (GOSH, Alder Hey, Birmingham and Sheffield). This has caused concerns about future service provision which were raised with David Well, Head of Pathology Consolidation. A teleconference was organised with clinical laboratory leads from the four Trusts and HK from MetBioNet in January 2018 to further discuss the potential impact of NHSI proposals on Specialist Paediatric services and the formation of a Specialist Paediatric Pathology Networks was proposed, using MetBioNet as an example. A workshop with NHSI and Pathology leads from each of the Hospitals within the Children s Hospital Alliance is taking place on 22 nd May to discuss further. MAP and Simon Heales will attend. MAP to report back to MetBioNet. Action: MAP Page 1 Stakeholder meeting 27 th April 2018
2 5.2 NCARDRS Proposals for collection of prospective and retrospective NBS data for the National Congenital Anomaly and Rare Disease Registration Service were circulated before the meeting. These were discussed. Stakeholders were broadly supportive but concerned about the work involved to search historical databases and whether the NHS number would be available for some cases. A realistic timescale is required. Collection of prospective data will be more straightforward. A system already exists in Wales. The proposals do not apply to Northern Ireland and Scotland. It has been suggested that a pilot will take place in one laboratory, then rolled out for 2018/19. A conference call has been proposed; MAP, HK and CH are happy to participate. HK will report back to MetBioNet. Please forward comments to HK. 6 MetBioNet constitution Action: HK 6.1 Amendments The constitution has been amended to include a treasurer and an annual financial report. It has been circulated to Stakeholders. The changes were approved. The minutes of meetings are now uploaded to a password-controlled area of the website. All Stakeholders have been informed of the password. AB will re-send this information with the minutes. Action: AB 6.2 Officers The current officers are as follows: Chair, Helena Kemp, since March 2016; Secretary, Ann Bowron, since March 216; Treasurer, Joanne Croft since May 2017; National Training Leads, Rachel Carling and Camilla Scott, start date unknown; BMS Lead, June Petty since February 2018, Website administrator Joanne Croft since March RC and CS would like to stand down as Training Leads. It was agreed to appoint a new Training Lead and a deputy at the next Stakeholder meeting. RC will write a job description and this will be sent to Stakeholders with a request for nominations. Thank you very much to RC and CS for their work on leading the training in metabolic biochemistry for MetBioNet over many years. 7 MetBioNet Finances Action: RC, AB 7.1 Treasurer s report (JC) Funds in the BMS account in Bristol have been transferred to the general account in Sheffield. Although the money is all in one account, JC is keeping a separate record of the BMS fund. Accounts for the year show a deficit of 848 (details in separate document). The balance is 76,334, of which 5,352 is in the BMS fund. Speakers at MetBioNet meetings from Stakeholder labs are expected to cover their own travel costs. 8 Training and Education (DF) DF and MH attended the Modernising Scientific Careers Board in February where proposed changes to STP Clinical Biochemistry programme were discussed including extending the time spent in Clinical Biochemistry and increasing the contact with specialist Biochemistry (including IMD) throughout the training programme. Changes may be introduced in The possibility of a specialist HSST programme for Metabolic Biochemistry is being explored but it is challenging. DF and MH will review the HSST curriculum and prepare a business case for a specialist post which will be sent to MetBioNet stakeholders for review then submitted to the Programme Board. The Programme Board are supportive. Page 2 Stakeholder meeting 27 th April 2018
3 Alternative routes to registration were discussed including the equivalence route. This may be of benefit to BMSs or University post docs. Further details are found in the February 2018 edition of ACB News. DF and CH will review options for this. Funding for the HSST programme was discussed. The host Trust will be expected to fund part of the training, but the possibility of a consortium approach was discussed. Trainees will be expected to be state registered before starting the HSST programme. They will also have to sit the FRCPath exam so must maintain some general training. 9 MetBioNet workshops 9.1 UKAS workshop and other current issues No progress. Actions: MH, DF, CH 9.2 Enzymes Katie Harvey (KH) from GOSH contacted HK and AB offering to help organise this workshop. There are a number of pressing issues, so it is hoped that a date and programme will be announced soon. It was also noted that Marie Jackson is due to give a talk on enzyme analysis at the June BIMDG meeting in Nottingham. Action: MJ, SO, KH 9.3 Organic acids RC reported that a draft guideline has been completed and will be sent to some senior colleagues for peer review. A workshop is scheduled for next spring. Action RC 10 Back-up for assays performed in only one laboratory RB presented a report, previously circulated. It shows that most assays performed in only one laboratory have a very small workload. The exceptions are trimethylamine and purines. One laboratory is developing a service for purines analysis. Sheffield will offer assistance to any laboratory who would like to set up the TMA assay. Other high-volume assays not included in the report are bile acids and CSF neurotransmitters. RB was thanked for this useful report. 11 Reports/Liaison with other groups 11.1 UK Genetic Testing Network (EG) No report 11.2 Blood Spot Advisory Group (SM) An agreed borderline cut-off for TSH of 8 mu/l was introduced in April in England and Wales for CHT screening. SM noted that the IMD handbook requires updating. HK will take this to IMD board. A SCID (severe combined immunodeficiency) newborn screening oversight group has been set up with a laboratory subgroup. Pilot centres will be identified. The Code of Practice for the retention and storage of newborn blood spots was published in December for implementation January It stated that NBS cards should be destroyed after 5 years, this decision is now on hold (see below) Joint Committee on Genomics in Medicine (HK) No meeting 11.4 UK Newborn Screening Laboratory Network (TW) The AGM and business meeting was held on 16 March, the focus was on SCID screening. A revised "Code of Practice for storage and retention of newborn bloodspots" was implemented in January 2018 with a maximum storage of 5 years. The policy has been challenged by patient groups Page 3 Stakeholder meeting 27 th April 2018
4 and clinicians on testing for congenital CMV infection in children who present after 5 years of age. Newborn Screening labs have been asked not to dispose of bloodspot cards until further notice. Reporting on Christmas day and New Year s Day was discussed. UKNSLN agreement is required before implementation Metabolic Disorders Clinical Reference Group (CRG) (HK) A meeting was held on 8 th March. There is slow progress on developing plans for Saturday reporting of NBS results. The needs assessment and options appraisal for laboratories was submitted previously; nurses and dieticians have now done the same exercise and these are being taken forward by Joan Ward (Metabolic CRG Commissioning Manager) with the Women and Children s Programme of Care Board. A broader review of metabolic services in the UK is to be undertaken. The CRG led a workshop last October with key stakeholders. A report has been taken to the Women s and Children s Programme of Care board who have agreed that a Programme led review should take place. This will be discussed in detail at the June CRG meeting. Metabolic services need to be delivered to service specifications as previously published with appropriate funding. Scotland have been through a similar review of metabolic services. Centralised funding will be provided for clinical services based in Edinburgh and Glasgow with outreach services, but laboratory services were considered too complex to include. In Wales, all metabolic services including laboratories will be funded by specialist commissioning. RB reported informal discussions in Leeds and Manchester that reporting of cases of possible galactosaemia identified on review of NBS results on Saturdays may be helpful. A survey of laboratories was proposed (see Audits, below). HK agreed to raise this at the IMD board. Specialised services quality data dashboard returns must be submitted 11 th May - 8 th June. CLIMB is to be re-branded as Metabolic Support UK (Your rare condition, Our common fight). ALD Life is expanding to incorporate other leukodystrophies. Action: HK 11.6 British Inherited Metabolic Disease Group (BIMDG) (AB) At the most recent committee meeting on 7 th March the relevant topics discussed were: difficulties obtaining funding for Kuvan, and for the support required (dietetics, laboratory investigations); a review of use of unlicensed medicines used in IMDs with an attempt to standardise across the UK; the annual conference in Nottingham which is open for registration. The annual membership fee has increased from 15 to 25, but few members have made the change to their bank details. 12 Report from the amino acids working group (SM) The working group has met, the guidelines have been reviewed. SM will complete the revision and submit it for peer review. 13 Report from the MetBioNet BMS group (JP) June Petty (Willink laboratory in Manchester) is the new chair for the BMS group, Marie Appleton (Newcastle) is vice-chair and Lis Smith (Alder Hey, Liverpool) the secretary. A training meeting on case studies is planned for October 19 th in Manchester. Speakers to be confirmed. There was concern that some labs are not represented at the meetings. The contact list will be updated to ensure all labs are included. Action: JP, LS, AB A commercial quality control laboratory has offered to produce a bespoke IQC. A list of compounds and concentrations has been produced. It is proposed to produce a provisional urine IQC for testing, then produce it in larger volumes for labs to purchase. Plasma will follow. The tests list will be Page 4 Stakeholder meeting 27 th April 2018
5 distributed to all Stakeholders for suggestions. HK will seek advice on whether it needs this project needs to go to tender. Details of sample exchanges for assays where no EQA is available have been collated. Action: JP, HK The terms of reference have been modified and uploaded to the website. The changes include new office holders, the structure of group, removal of an AGM, and inclusion of a commitment to a regular training meeting. The MetBioNet lead trainer previously sat on the BMS committee. This should be included in the job description of lead trainer. 14 Website 14.1 Website update (JC) See separate report Assay Directory (AB) AB has downloaded the database of tests and disorders from the website, to be reviewed by a small team of volunteers. There are some errors, missing tests, duplications and many missing disorders. AB will contact the website manager to enquire whether the database can be searchable. Action: AB, SH 14.3 Quality assurance schemes (VP) The entry for each laboratory on the website has been changed to include UKAS ISO status and a link provided to the UKAS website. All Stakeholders were invited to update their details, and a reminder will be sent about this. 15 Audit Action: AB 15.1 Ammonia audit (HA) The questionnaire has been updated following discussion at last meeting. The guidelines need to be updated. HA contacted the Chair of the ACB national audit committee who agreed that this could be a national audit in early The MetBioNet audit has been accepted for poster presentation at Focus and will be submitted for poster presentation at the SSIEM and BIMDG annual meetings Survey of metabolic assays performed in non-metbionet labs This is not currently considered a priority and will not be pursued. Action: HA 15.3 Audit of diagnoses of Galactosaemia RB agreed to perform a survey of laboratories to identify cases of galactosaemia identified by results of NBS, and those diagnosed separately. HK to provide details of the previous survey if still available. 16 Stakeholder issues Action: RB 16.1 ERNDIM Some suggestions for the ERNDIM EQA schemes were discussed including more frequent and more evenly spaced sample distribution and faster turnaround of results of qualitative schemes. The ERNDIM board meeting in November will discuss suggestions about the schemes. HK to circulate for Stakeholders for further suggestions, then write a letter to ERNDIM including these. Action HK Page 5 Stakeholder meeting 27 th April 2018
6 17 Workforce planning (MAP) All but three labs have submitted returns. MAP will chase those. Some consistent findings include difficulty recruiting to some posts, few posts have been lost or had banding changes and absence of key staff results in changes to repertoire and turnaround times. Further work is required on processing the data, then a summary will be distributed to Stakeholders. It was suggested for future reviews to include planned retirements, to help with workforce planning. 18 Guidelines Guideline Date for review Author Status Action: MAP Fits and seizures July 2014 MH, RB Completed, for review Amino acids analysis Jan 2017 SM Working group convened Hypoglycaemia January 2017 CS In progress Rhabdomyolysis March 2015 Simon Olpin To discuss with SO Sudden infant death November 2015 Simon Olpin To discuss with SO Liver disease January 2017 Roshni Vara Completed, for review Cardiomyopathy July 2017 AB SO AB to discuss with SO Hydrops Jan 2018 George Gray VP to lead a review Organic acids analysis New RC Completed, for review. MAP will review the current status of the Guidelines and contact authors for updates where required. HK received a letter from a Biochemist in a DGH expressing concern about the inclusion of urine reducing substances on the hypoglycaemia guideline. This guideline is due to be updated. Action: MAP 19 Research Nothing to report. It is difficult to keep this up to date, so it was agreed to remove it from the website. Action: JC 20 Any other business NM and AB have discussed an article for the ACB News to raise awareness of MetBioNet and the resources available on the website Action: AB, NM An App for families of patients diagnosed by NBS is under development, led by JB. Details to follow. Action: JB RC reported on her collaboration with the Laboratory of the Government Chemist with the aim to improve harmonisation of expanded newborn screening assays and to produce best practice guidelines. Details are in the April 2018 edition of the ACB News. MAP is involved in a project on NBS for tyrosinaemia with Warwick University. MAP reported that an NHS Improvement project, The Model Hospital, is now live. Laboratories can register, submit performance and compare with peers Next meeting Friday 2 nd November 2018 Page 6 Stakeholder meeting 27 th April 2018
7 Action Points Summary Agenda ref Action agreed Nov MU to be included in BIMDG annual meeting 2019 DF Nov Upload workshop presentations onto website MAP Assigned to: Nov Organise workshop on current issues (UKAS) HK, SM, RC, MH Nov Enzymes workshop SO, MJ, KH Nov Review of amino acids guidelines SM Nov Update assay directory AB, SH Nov Fits and seizures guideline to be peer reviewed MAP Nov Hypoglycaemia guideline CS Nov Rhabdomyolysis guideline SO Nov SUDI guideline SO Nov Peer review of liver disease guideline MAP Nov Cardiomyopathy guideline AB, SO Nov Hydrops guideline VP Nov Organic acids guideline RC Apr Report from NHSI workshop on paediatric pathology MAP Apr Report from NCARDRS project HK Apr Circulate information about website password AB Apr Job description for MetBioNet training officer RC Apr Circulate job description and seek volunteers for training officer role AB Apr 18 8 Review training curriculum MH, DF Apr 18 8 Write business case for specialist metabolic training MH, DF Apr 18 8 Obtain more information about equivalence route training DF Apr Raise reporting galactosaemia screen reporting with IMD board HK Apr Update BMS contact list AB, LS Apr Enquire whether bespoke IQC needs to go to tender HK Apr Remind stakeholders to update details of UKAS status on website AB Apr Present ammonia audit at Focus, BIMDG and SSIEM meetings HA Apr Audit of galactosaemia diagnoses RB Apr Write to ERNDIM with suggestions for improvements to schemes HK Apr Chase up authors and reviewers of out of date guidelines MAP Apr Remove Research section from website JC Apr Article for ACB News AB, NM Page 7 Stakeholder meeting 27 th April 2018
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