Welcomes you to the Annual General Meeting 2013. Chair: Angela Douglas.

Welcomes you to the Annual General Meeting

2013

Introducing the acgs

Chair: Angela Douglas

The acgs• 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

acgs Exec StructureChair ACGS

Angela Douglas

Chair electAnn

Dalton

TreasurerKevin Ocraft

SecretaryNicola

Williams

Chair Workforce

DevelopmentDavid Baty

Chair Scientific

CommitteeDom

McMullan

Chair QualitySandi 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 ReportACGS 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.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 - RDStep 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

any questions?