Welcomes you to the
Annual General Meeting
2013
Introducing the
Chair: Angela Douglas
The
• 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
Exec Structure
Chair ACGS
Angela
Douglas
Chair
Scientific
Committee
Dom
McMullan
Chair elect
Ann
Dalton
Chair
Workforce
Development
David
Baty
Treasurer
Kevin
Ocraft
Chair
Quality
Sandi
Deans
Secretary
Nicola
Williams
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
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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
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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
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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
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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.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
The National Context
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 28-30th April
2014, Austin Court, Birmingham