The Association whose members have in common working within a clinical genetic science environment The Association for Clinical Genetic Science was established in December 2012 from a merger of the Association for Clinical Cytogenetics and the Clinical Molecular Genetics Society with the vision of bringing together scientists working within genetics into one professional association. The acgs is governed by its constitution and run by its elected Executive committee consisting of a Chair, Vice Chair, Secretary, Treasurer and the Chairs of the 4 standing subcommittees; Workforce Development, Quality, Scientific and Communications The acgs will have no legal powers, is not a union and cannot represent members at formal hearings such as disciplinary or grievance, the acgs can only provide expert advice Aims and Objects of the Association are available on website www.acgs.uk.com
Chair ACGS Angela Douglas Chair elect Ann Dalton Treasurer Kevin Ocraft Secretary Nicola Williams Chair Workforce Development David Baty Chair Scientific Committee Dom McMullan Chair Quality Sandi Deans Chair Communication Simon McCullough
The Charities Commission Communication with the Charities Commission in May 2013 Satisfied with application Asked us to make one small amendment to Constitution –For the public benefit, the promotion, protection and preservation of good health, by any means deemed appropriate by the Trustees from time to time, including by: The promotion, encouragement and advancement of the study and practice of clinical genetic science. The advancement of education, research and innovation in clinical genetic science. The development and promotion of clinical standards in clinical genetic science. Proposed the resolution to change our Objects in the current constitution, to those recommended by the Charities Commission. Voting was electronic using Survey Monkey The results of the voting were in favour of the change and the changes were submitted to the charities commission. We await our registration Number
Treasurers Report ACGS and ACC Kevin Ocraft Treasurer (ACC and ACGS)
Quality Committee Audit/Activity data –Continue with data collection in CMGS format for 2012-13 period –2013 pilot run to collect data for QF-PCR for aneuploidy from all labs –Collect all activity data for 2013-14 –Allow more auditing for the benefit of ACGS labs Promote Best Practice –Currently reviewing all BPGs –Set up pipeline for BPGs to be reviewed and maintained in a timely manner –Aim for harmonisation across genetics labs –General Genetics Reporting Guidelines workshop – 11 October –ACGS/UKGTN workshop for Next Generation Sequencing – 13 November –Accreditation workshop for new standards as applied to genetics lab – TBC Standards/Governance –Communication with appropriate bodies to help deliver and maintain a high standard of service e.g. RCPath, UKNSPC, IBMS, FASP, UKAS, UKGTN
Scientific Committee Conferences –To organise and theme a scientific programme for an ACGS meeting in 2014 –To determine the need and organise content of ASGS Study Days –To provide significant input into future BSGM meeting programmes Research and Collaboration –To scope the challenges faced by labs in terms of contributing data to public databases and encourage and facilitate wider contribution –Identify the potential for ACGS Research fund awards to promote and facilitate springboard research project efforts from within Clinical Diagnostic labs –Increase contribution International initiatives (eg NCBI/ISCA Gene Dosage Curation process) as a collective UK/ACGS effort Publications –Identify areas and provide the networks for pooling data into UK/ACGS publications, capitalising on our large datasets and collaborative nature
Workforce Development Committee Workforce –Gathering workforce data from all UK laboratories for 2012/2013. –Involved in drafting standards for Academy practitioner voluntary register –Respond to consultation on standards –Investigating route to registration for Technologists Training –Working group established for career framework 2-4 staff in genetics –Seek feedback from labs delivering new STP Clinical Bioinformatics –Greater involvement in OSFA process –Organise training meetings –Investigate lead TO role Stakeholders –Collaborate with key stakeholders e.g. ACGS members, NSHCS, AHCS, RCPath, IBMS, VRC and MSC team.
Communication Committee ACGS website –New ACGS website is in operation – www.acgs.uk.comwww.acgs.uk.com –In process of being populated with content from both ACC and CMGS sites but also from the ACGS subcommittees –All BPG are now on new website –All new events/jobs will be advertised on new website only Newsletter – Next edition closing date for submission of articles is end of Nov - send to Emma Huxley and Martin Schwarz please Membership –Will aim to improve communication with members –Will organise a road show to UK labs to publicise ACGS work and membership
Commitment from DH and Ministers £100m for 100,000 Genomes Commitment from DH and Ministers NHS first in world to benefit from application of Genome sequencing technology applied in a healthcare setting DH Committed up to £100m to develop the necessary skills to support delivering the best patient outcomes To support the linking of data for optimal patient care and future public and private research To pump prime the sequencing of 100K genomes from NHS Patients Sir David Nicholson’s Team to lead on delivering the NHS Vision
Genomic Strategy Deliverables of £100m Pledged By Government Train a new generation of British genetic scientists to develop life-saving new drugs, treatments and scientific breakthroughs; Train the wider healthcare community to use the technology; Fund the initial DNA sequencing for cancer and rare and inherited diseases; and Build the secure NHS data linkage to ensure that this new technology leads to better care for patients.
Delivering the Project – Press Release 5th July 2013 Based on expert scientific advice, DH has initially prioritised sequencing of lung and paediatric cancer, rare diseases (undiagnosed in RGS) and infectious diseases (HIV, Hep C and TB) The project will be run by Genomics England, an organisation entirely owned by DH The UK aims to become the first country to introduce this technology in its mainstream health system - leading the global race for better tests, better drugs and above all better, more personalised care to save lives Genomics England will create a dataset of anonymised whole genome sequences matched with clinical data at a scale unique in the world.
Proposed Pathway - RD Step 1: Application of existing diagnostics or research (DDD) by RGS Step 2: Undiagnosed – Consented for Whole Genome Sequencing (Project) Step 3: Data released to diagnostic laboratories (Project) Step 4: Diagnostic bioinformatics analysis and variant reporting (?RGS/Project) Step 5: Validation of results (RGS) and Health economic analysis (Project) Step 6: Evaluation (of Project Outcomes) including successful implementation of WGS in RGS with functional commissioning arrangements and acceptance from patients of test
New company ‘Incorporated’ on 17 April 2013 to take forward the Prime Minister’s 100k Genome Project 100% owned by the Department of Health The company is in its initial start-up phase and plans to have six or seven Non-Executive Directors representing the following areas: –Science, Data, Ethics, Media, Industry, Department of Health www.genomicsengland.co.uk
Role of Genomics England Will be funded by DH in the medium term, and any surplus will be invested back into improving health Will manage contracts for specialist UK-based companies, universities and hospitals to supply services on sequencing, data linkage and analysis. Will provide the investment and leadership 100K Genome Project Will set standards for obtaining patients’ consent and also strictly manage storage of personal data in accordance with existing NHS rules designed to securely protect patient information. Will have the independence and clout to drive innovation across systems and healthcare economies
Key issues and Recommendations: Responsibility for coordination of the NHS England contribution to the 100k genomics programme will reside in the business improvement and research division of the medical directorate. Responsibility for alignment of the genomics agenda with NHS England. The patients and information directorate will represent NHS England on the Board of Genomics England Limited. NHS England is responsible for service commissioning elements and will establish a formal service reconfiguration steering group as part of the Medical Genetics Clinical Reference Group.
Reconfiguring 17 RGS Labs - England NHS England Strategy Board proposal Medical Directorate of NHS CB Responsibility Medical Genetics CRG oversee reconfiguration project to determine options and deliver rationalisation of Genetic testing facilities (Labs only) Consultation and tender/EOI process against a specification Organisations given 6 months notice of decommissioning (June 2014?) Revised service structures identified and launched in January 2015?
Dates to note Next Heads of Services Meeting and ACGS Scientific Meeting 28-30 th April 2014, Austin Court, Birmingham
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