NE Thames Regional Genetics Service Annual Report Thames... · North East Thames Regional Genetics Service Annual Report Page 3 EXECUTIVE SUMMARY The North East Thames Regional Genetics

NE Thames Regional Genetics Service Annual Report

2010-2011 Great Ormond Street Hospital NHS Trust

North East Thames Regional Genetics Service Annual Report

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TABLE OF CONTENTS

EXECUTIVE SUMMARY......................................................................................................... 3

1. INTRODUCTION............................................................................................................ 4

2. CLINICAL GENETICS...................................................................................................... 5 2.1. Staff List ......................................................................................................................................... 5 2.2. General Clinics.............................................................................................................................. 7 2.3. Cancer Clinics ................................................................................................................................ 7 2.4. Specialist Clinics............................................................................................................................ 7 2.5. Activity............................................................................................................................................ 8 2.6. Transfer from Paper Records to Electronic Notes .................................................................. 9 2.7. Universal Newborn Screening Service – Cystic Fibrosis .....................................................10 2.8. Patient and Public Involvement ................................................................................................10

2.8.1. Genetics for Interpreters ..................................................................................................10 2.8.2. Patient Survey ....................................................................................................................10 2.8.3. Patient Information Evening - “Telling the Family about a Genetic Disorder”.......10

2.9. Training and Teaching...............................................................................................................11 2.10. Professional Duties .....................................................................................................................13

3. REGIONAL GENETICS LABORATORIES....................................................................... 15 3.1. Cytogenetics Service Staff List.................................................................................................15 3.2. Cytogenetics Service Activity ...................................................................................................17 3.3. New Service Developments ......................................................................................................18

3.3.1. Chromosomal Microarrays ...............................................................................................18 3.3.2. Automation of Cell Harvesting, Slide Making and Staining ......................................18 3.3.3. Solid Tissue Analysis ..........................................................................................................18

3.4. Quality..........................................................................................................................................18 3.5. Molecular Genetics Service Staff List .....................................................................................19 3.6. Molecular Genetics Service Activity........................................................................................20 3.7. New Service Developments ......................................................................................................21 3.8. Quality..........................................................................................................................................21 3.9. Continuing Professional Development ....................................................................................21

3.9.1. Modernising Scientific Careers........................................................................................21 3.9.2. Teaching...............................................................................................................................21 3.9.3. Meetings Attended ............................................................................................................22

3.10. Professional Duties .....................................................................................................................23

4. RESEARCH AND DEVELOPMENT ................................................................................ 24 4.1. RAPID (Reliable accurate prenatal non-invasive diagnosis) ..............................................24

4.1.1. Collection and Processing of Samples ...........................................................................24 4.1.2. Pilot EQA Scheme ..............................................................................................................24 4.1.3. Free Fetal DNA Extraction Workshop ...........................................................................24


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4.1.4. Diagnosis of Single Gene Disorders...............................................................................25 4.2. Next Generation Sequencing...................................................................................................25 4.3. Chromosomal Microarrays........................................................................................................25

5. PUBLICATIONS, ABSTRACTS & PRESENTATIONS....................................................... 26


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EXECUTIVE SUMMARY

The North East Thames Regional Genetics Service has continued to increase overall activity during the year. General clinic appointments were 11% above baseline, with cancer appointments just below baseline. Cytogenetics and molecular genetics laboratory activity rose significantly by 36% and 7% respectively; much of which was driven by the introduction of chromosomal microarray analysis as a first line test for all referrers. Cancer samples processed by the molecular genetics laboratory showed an increase of 31% above baseline.

2010-2011 has been a year of significant organisational change for the Service with the move of the Clinical department to York House (now co-located with the laboratories) and the transfer to electronic records. The Service continues to develop new clinics, new cytogenetic and molecular tests and new methods to improve workflows and efficiencies. The cytogenetics laboratory has benefitted from the automation of cell harvesting, slide making, staining and cover slipping. The molecular genetics laboratory has further expanded its test portfolio, following the successful approval of a number of gene dossier applications to the UK Genetic Testing Network. In April 2010, a new Great Ormond Street Hospital led NCG service for Bardet-Biedl syndrome was introduced with partner centres at Guy’s Hospital and Birmingham Children’s Hospital.

Following the re-organisation in 2009-2010, the laboratories have continued to build on the new structures with integrated administrative, clerical, business and IT support functions across both laboratories. Translational research and development, new technologies and new service developments have been a major focus during the year with help from infrastructure investment and successful grant funding. Emma Ashton received a NIHR CSO Healthcare Scientist Fellowship to develop clinical applications of next generation sequencing and our R&D programme was further boosted by the acquisition of a bench top next generation sequencer. The laboratory has further enhanced its expertise in the analysis of cell free fetal DNA with a number of peer-reviewed publications and presentations at national and international meetings and the NIHR RAPID (reliable accurate prenatal non-invasive diagnosis) project held a number of dissemination meetings and laboratory workshops.

Education and training remain a key activity with the clinical team hosting numerous clinical trainees and visitors and the laboratories continuing to participate in the Department of Health pilot scheme for Modernising Scientific Careers with two scientists appointed to the Scientist Training Program (STP) and one to the Practitioner Training Program (PTP).

Dr Angela Barnicoat Dr Nick Lench Lead Clinician Director, Genetics Laboratories


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1. INTRODUCTION

The NE Thames Regional Genetics Service at Great Ormond Street Hospital comprises the Clinical Genetics Department and the Laboratories for Cytogenetics and Molecular Genetics and is commissioned to provide a service to a population of approximately 4.5 million people including the whole of the North East of London and extends as far as Hertfordshire to the North and Essex to the South and East. The Unit also receives nationally commissioned funding for a number of specialised services including Bardet-Biedl syndrome, craniosynostoses, lysosomal storage disorders and severe combined immunodeficiencies. The laboratories provide an extensive range of diagnostic testing services and have full clinical pathology accreditation (CPA) status. The service is a member of the South East of England Genetics Network (SEEGEN) and the United Kingdom Genetics Testing Network (UKGTN).

Research and development is a key objective of the Unit, a number of staff having joint academic appointments with University College London. The service has a strong commitment to education and training and public and patient engagement and participates in clinician, scientist and technologist training programmes. A number of staff are also actively involved at a regional and national level in policy development, training and examination.


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2. CLINICAL GENETICS

The Clinical Genetics service is headed by Dr Angela Barnicoat. Ten consultant staff provide a total of 70 weekly sessions across a range of general, cancer and specialist clinics. The department benefitted from the appointment of two new consultant staff in September 2010. Dr Jane Hurst joined the department from the Oxford Regional Genetics Service working 0.8 FTE with Dr Richard Scott being appointed from the Thames Training Scheme working full time with a 0.2 FTE academic commitment. Dr Adam Shaw left the Service in spring 2010.

The Clinical Nurse Specialists and Genetic Counsellors team has a total of 8 staff providing a total of 5.8 FTEs. Kelly Loggenberg joined the department replacing Chris Harocopos on her retirement. The majority of general and cancer clinic appointments are held at local hospitals, with only a small number of home visits provided. The genetic counsellors control their own case-load and manage a significant proportion of prenatal diagnoses handled by the department. The Service is supported by a team of administrative staff. During the year the service underwent a major change transferring from paper records to electronically held notes with consequent reconfiguring of departmental processes leading to a restructuring of administrative posts and duties. Chris Skilbeck was appointed as a six month project manager for this work. The administrative staff complement is now a Band 5 office manager, three Band 4 secretarial posts and three Band 3 administrative support posts. Jacqueline Cross (secretary) and Michael James (IT and data support) long serving members of the administrative team, retired during the year. The IT support post was subsumed into other administrative roles.

2.1. Staff List Clinical Geneticists and Consultant

Academic Staff

Angela Barnicoat Lead Clinician

Maria Bitner-Glindzicz Consultant and Reader, Clinical and Molecular Genetics, ICH

Jane Hurst Consultant and Dysmorphology Lead

Ajith Kumar Consultant

Melissa Lees Consultant

Alison Male Consultant

Elisabeth Rosser Consultant

Richard Scott Consultant and Honorary Senior Lecturer, ICH

Lucy Side Consultant, Senior Lecturer UCL, Lead Cancer Genetics Service


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Louise Wilson Consultant

Phil Beales Professor, Molecular Medicine, ICH

Lyn Chitty Professor, Genetics and Fetal Medicine, ICH

Gudrun Moore Professor, Clinical and Molecular Genetics, ICH

Clinical Nurse Specialists and

Genetic Counsellors

Cheryl Berlin The Royal Free Hospital

Anita Bruce South Essex

Bernadette Farren Great Ormond St Hospital

Christina Harocopos* Bart’s and The London Hospital

Ella Hillbehari Homerton Hospital

Kelly Loggenberg Bart’s and The London Hospital

Kate Simon South Essex

Sally Taffinder Great Ormond St Hospital and UCLH

Emma Williams Great Ormond St Hospital

Administrative and Clerical Staff

Chris Skilbeck Project Manager

Nasrin Khalique Office Manager

Jacqueline Charles Secretary

Jill Corneille Secretary

Jacqueline Cross* Secretary

Michael James* Data and IT Manager

Elizabeth Sturges Data Entry Clerk

Temporary Staff (2.0 FTE) Administrative Support

*Staff Leavers 2010-2011


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2.2. General Clinics

General clinics are held at several sites across the region. Most referrals for families with known inherited conditions or for children with developmental problems are offered appointments at their local clinic. Urgent referrals are dealt with locally at Great Ormond Street Hospital or University College London Hospital (UCLH). Clinics at UCLH are held at the Fetal Medicine Unit and are generally for ongoing pregnancies requiring intervention. There is a daily ward review service at Great Ormond Street Hospital, ward reviews are offered at peripheral sites where clinics are held if the visiting geneticist is available on site.

2.3. Cancer Clinics

The service provides a broad service for general cancer referrals as well as specialist expertise in paediatric, syndromic and neuroendocrine cancers. The service is supported by five genetics counsellors (representing 3.8 FTEs) and covers three major cancer networks: North London, North East London and Essex.

Face to face clinics are held at Great Ormond Street, The Royal Free, Bart’s and The London and University College London hospitals as well as in four regional hospitals in Essex.

The common cancers with a significant genetic pre-disposition are stratified into three risk levels (high, medium, population average) based on family history. Patients and families with rare or syndromic cancers are managed by the consultants. Dr Elisabeth Rosser provides two sessions a week to the Supra-regional Retinoblastoma service at Bart’s and The London Hospital. The service actively identifies patients for recruitment to national cancer clinical trials.

Specialist Cancer Clinics

Neuroendocrine Bart’s and The London

Retinoblastoma Supra-regional Service, Bart’s and The London

Von-Hippel Lindau The Royal Free Hospital

2.4. Specialist Clinics

The service also operates a number of specialist clinics across the region. Clinics held at Great Ormond Street Hospital include the Dysmorphology Clinic led by Dr Jane Hurst and Dr Richard Scott. Dr Maria Bitner-Glindzicz provides a genetic deafness clinic at Great Ormond Street Hospital and a dual sensory impairment clinic at the National Hospital for Neurology and Neurosurgery. The Neurogenetics Clinic at the National Hospital for Neurology and Neurosurgery focuses mainly on patients with Huntington’s disease; patients requesting predictive testing are seen by Dr Elisabeth Rosser.


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Specialist Clinics

Cardiac Genetics The London Chest Hospital

Regional Cleft Lip and Palate Great Ormond St Hospital and The Broomfield Hospital

Deafness The Nuffield Hospital

Dual Sensory Impairment National Hospital for Neurology and Neurosurgery

Di George Syndrome Great Ormond St Hospital

Dysmorphology Great Ormond St Hospital

Endocrine and Urology Great Ormond St Hospital

Neurogenetics National Hospital for Neurology and Neurosurgery

2.5. Activity General clinic appointments were 11% above baseline level in 2010-2011, cancer clinics appointment decreased by 6%.

Non-Cancer Clinic Appointments 2010-2011

Region Baseline Actual

Bedfordshire and Hertfordshire

151 157

Essex 1039 1138

North West London 152 123

North Central London 685 727

North East London 920 1166

South East London 50 30

South West London 54 57

Kent and Medway 37 40

Surrey and Sussex 55 53

Total 3143 3491


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Cancer Clinic Appointments 2010-2011

Region Baseline Actual

Bedfordshire and Hertfordshire

62 34

Essex 612 546

North West London 31 21

North Central London 384 385

North East London 409 439

South East London 18 10

South West London 5 5

Kent and Medway 13 3

Surrey and Sussex 5 3

Total 1539 1446

We continue to monitor and seek ways to improve Failure to Attend (FTA) rates. Services continue to be offered in areas with high social deprivation including some with high transient refugee populations. Communication with patients can be challenging - interpreters are often required and many families are relocated during the time between referral and appointment.

2.6. Transfer from Paper Records to Electronic Notes The clinical department relocated from Long Yard to Level 4 of York House on the Great Ormond Street Hospital site in November 2010. This was needed because of other changes within the Trust and ICH but was an opportunity to become co-located with the Genetics Laboratories (on levels 5 and 6 of York House) and allows further integration of the services. As the new space did not have room for the paper notes it was an opportunity to modernise our storage to an electronic format and along with this develop new digital processes. The move was accomplished without any loss of clinic time or activity. At the same time all the old notes were digitised into a searchable PDF format. These records along with newly created ones are now stored in a secure part of the clinical documents database held at GOSH. New processes for dealing with referrals, and incoming and outgoing post, in an electronic format were designed and implemented. Clinicians delivering services at peripheral sites have been supplied with laptops that can link to Great Ormond Street securely via the mobile network so that records can be safely used when offsite. There are numerous benefits to the new way of working along with some challenges – we are continuing to improve and streamline the systems.


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2.7. Universal Newborn Screening Service – Cystic Fibrosis Currently Great Ormond Street Hospital carries out a new born baby screening support service for the whole of London. It has been delivering this service for almost 4 years. The genetic counsellor who delivers this work receives the results of the blood spot tests from 3 different laboratories. The information received confirms the baby’s genetic results and the mother’s name and GP. The clinical work this generates can be quite considerable: throughout the genetic counsellor is overseeing the process and ensuring the right steps are happening to time. Records of individual family contact are documented and records of the activity levels stored. The service provides a single point of contact for the laboratories. The use of an experienced genetic clinical nurse specialist means that a high quality service is delivered with attention to detail and appropriate levels of support and reassurance.

2.8. Patient and Public Involvement 2.8.1. Genetics for Interpreters In May 2010, two courses in Genetics for Interpreters were run by Dr Elisabeth Rosser. These training days arose from discussions with Language Line who provide interpreting services for our clinics. We wanted to provide information to the interpreters about the service, what would happen during the appointment and on the different modes of inheritance. Over 60 interpreters and health advocates attended the two sessions, mainly from Language Line, but also from GOSH and The Royal London Hospital. Over 30 languages were represented from Albanian to Vietnamese. The sessions ended with a workshop-based discussion on difficult scenarios. Feedback was extremely positive.

2.8.2. Patient Survey This was carried out in May 2010; 369 surveys were sent out, including, for the first time, some in other languages. 77 completed surveys were returned, a further 25 partial surveys were returned. In general, patient satisfaction with the service was very high with:

• 84/85 people saying that the appointment was helpful

• 86/86 saying that they understood some or all of what they were told in the appointment

• 76/76 said that the letter they received after the clinic was easy to understand

• 81/87 said that they had been given all the information that they needed

• 83/84 felt they had been treated with respect.

2.8.3. Patient Information Evening - “Telling the Family about a Genetic Disorder” A patient information evening entitled “Telling the Family about a Genetic Disorder” was held. An invitation to the evening was sent out with every letter to patients from the beginning of March. Approximately 35 people attended the evening. Speakers came from within and outside of the Genetics Department and there were sessions on basic genetics and different modes of inheritance, is there a right time to convey genetic information, the role of patient organisations, talking to adolescents, guidelines for testing children and the communication of genetic risk; feedback was very positive.


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2.9. Training and Teaching

Clinical Genetics Trainees

Neeti Ghali

Janna Kenny

Helen Moody

Richard Scott

Shereen Tadros

A survey of the genetics training across the London centres was undertaken in 2010 London. The JCHMT national survey reported excellent and high quality training in Clinical Genetics in London. Formal training for Trainee Geneticists is held within the London Deanery in the form of 2 day Summer and Winter Schools. The Department hosted a 1 day of “Cardiology and Genetics” as part of this programme, where the London trainees in addition to trainees from other centres in the South of England including Cambridge and Southampton attended a day of guest and internal speakers, including a junior dysmorphology club.

Visitors

Dr Naomi Gerson-Sofer April 2009-present

Dr Caroline Daelemans April 2010

Dr Anna Kenyon April-September 2010

Neeti Lakhani April 2010

Tharsika Karunakaran April2010

Dr Salem El-Shawarby May 2010

Rosi Marsh May 2010

Anne McKirdy May-June 2010

Peishan Lee July 2010

Dr Gautam Ambegaonkar July-August 2010

Dr Alison Stellman August 2010


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Lisa Campisi September 2010

Sabrina Talukdar October 2010

Puja Mistry October 2010

Win Win Khine October-November 2010

Devesh Shah October-November 2010

Dr Kerry Robinson November 2010

Jonathan Payne November 2010

Dr Imelda Balchin December 2010-January 2011

Shahana Chowdhury December 2010

Dr Claudia Santoro January-July 2011

Dr Verity Harthill January 2011

Claire Giffney January-April 2011

Mike Paul-Smith January-February 2011

Miraim Schmidts January-February 2011

Dr Ruth Seager February 2011

Eva Karampetsou March 2011

Dr Divya Pore March-April 2011

Ji Soo Kim March-April 2011

The department undertakes a wide range of teaching activities, contributing to the medical undergraduate course at University College London and providing extensive postgraduate and health professional teaching within the department and at local NHS Trust sites. Teaching is offered to GP trainees and district hospitals in paediatric, obstetric and adult genetics. The department provides teaching for the Clinical Pediatrics MSc, Institute of Child Health. Informal teaching was also carried out in schools under the Jeans for Genes initiative. Highlights of formal teaching this year included:

• Clinical Genetics - What Does the Future Hold? August 2010

• Institute of Maternal and Child Health Medical College, Calicut, India


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• Manchester Dysmorphology Conference October 2010

• Skeletal Dysplasias: A Clinical Approach Skeletal Dysplasia Group Spring Instructional Course, Oxford

The department also provided a significant amount of informal teaching to observers sitting in on clinics over the course of the year. Local consultants and registrars regularly attend peripheral clinics as well as Fetal Medicine Unit trainees, GOSH and UCLH junior staff from other specialties and laboratory staff wanting to learn about the clinical service. The department also provides taster weeks for F1 and F2 trainees – a clinic visit is often a starting point for junior doctors and medical students who wish to consider clinical genetics as a career option.

2.10. Professional Duties Selected Responsibilities

Angela Barnicoat Forum for Clinical Effectiveness, Royal College of Physicians - CGS Representative

Clinical Governance Committee, CGS

Fragile X Syndrome Society, Specialist Advisor

Maria Bitner Glindzicz SENSE, Medical Advisor

Jeans for Genes Small Grants Panel

Deafness Research UK, Medical Advisor

RNID Research Grants Advisory Panel, Member

Human Tissue Act Licence for Research, ICH Representative

Anita Bruce AGNC Committee Member

AGNC Webmaster

Melissa Lees Pre-implantation Genetic Diagnosis Clinical Group, Clinical Advisor

Alison Male Smith-Magenis Foundation, Medical Advisor

Elisabeth Rosser Secretary, CGS

Retinoblastoma Society, Research Committee Member

National Organisation for Fetal Alcohol Syndrome, Trustee

Lucy Side BSHG Scientific Committee Member for Conference


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Steering Group Member Cancer Genetics Group BSHG

Genetics representative North London Cancer Network Tumour Board

Advisor Cancerkin Charity

London Genetics Consortium Advisory Group for Familial Breast Cancer Management

Sally Taffinder Antenatal Results and Choices, Trustee

Louise Wilson Skeletal Dysplasia Group, CGS Representative


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3. REGIONAL GENETICS LABORATORIES

Management

Nick Lench PhD FRCPath Director Joint Laboratories and Honorary Reader, ICH

Jon Northfield Admin and Finance Manager

Mike Tinsley IT and Data Analyst Specialist

Gillian Hendry Secretary and Office Administrator

Bola Olayinka Administrator

Tony Paul Administrator

Fatima Sonowar Administrator

Donna Thomas* Administrator

Research Staff

Angela Barrett PhD Post-doctoral Scientist, RAPID Project

Suzie Drury PhD Post-doctoral Scientist, Translational Research

Tom McDonnell Research Assistant, RAPID Project

Darrell Wang* Research Assistant, RAPID Project


3.1. Cytogenetics Service Staff List

Cytogenetics Staff 2010-2011

Jonathan Waters PhD FRCPath Head of Service, Deputy Director, Joint Laboratories and Honorary Lecturer, ICH

Ann Jackson FRCPath Head of Section - Clinical Scientist

Rodger Palmer Head of Section - Clinical Scientist

Tom Spencer Head of Section - Clinical Scientist

Tracey Adams* Registered Clinical Scientist

Lee Grimsley Registered Clinical Scientist


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Deborah Morrogh DipRCPath Registered Clinical Scientist

Lucy Platts Registered Clinical Scientist

Denise Rooney PhD Registered Clinical Scientist

Rubin Wang PhD Registered Clinical Scientist

Qian Zheng Registered Clinical Scientist

Kamila Jagiello Registered Clinical Scientist

Paula Stubbs Registered Clinical Scientist

Jo Gilmore Pre-registration Clinical Scientist

Monika Augustynowicz Pre-registration Clinical Scientist

Drew Ellershaw Trainee Clinical Scientist

Tanja Fiegel Trainee Clinical Scientist

Jennifer Carter Trainee Clinical Scientist

Evangelia Karempetsou Trainee Clinical Scientist

Olivera Spasic-Boskovic Trainee Clinical Scientist

Celia Brown Scientist Trainee (Modernising Scientific Careers)

Rebecca Franses Scientist Trainee (Modernising Scientific Careers)

Harvinder Bangar Cytogenetic Technologist

Olugbenga Bashorun Cytogenetic Technologist

Eleanor Challis Cytogenetic Technologist

Christine Davies* Cytogenetic Technologist

Ahinora Dimitrova Cytogenetic Technologist

Anisa Jimalle Cytogenetic Technologist

Audrey Koomson* Cytogenetic Technologist

Nomfuneko Nosilela Cytogenetic Technologist

Karolina Pawliczak Cytogenetic Technologist

Claire Pearce Cytogenetic Technologist


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Remben Talaban Cytogenetic Technologist

John Lane Laboratory Assistant


3.2. Cytogenetics Service Activity

Workload activity for the Genetics Consortium showed a major increase during 2010-2011, with a 36% rise in total workload units against baseline. This increase in activity was a direct result of the introduction of chromosomal microarray analysis as a first line test for children with multiple congenital anomalies, developmental delay and mental retardation. Sample turnaround times were within the defined national targets, with the exception of routine bloods.

Genetics Consortium Activity 2010-2011 Work Load Units

Chromosomal microarray 3435

Bloods 4404

FISH 393

Solid tissues 481

Chorionic villus 591

Amniotic fluid 429

TOTAL 9733

Turnaround Times 2010-2011 Days to

Report

National Target

Bloods 61.9 30.3

Urgent bloods 5.9 7.4

Solid tissues 21.8 29.2

Chorionic villus 10.3 12.1

Amniotic fluid 11.5 12.0


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3.3. New Service Developments 3.3.1. Chromosomal Microarrays The diagnostic yield for CMA (~15%) continues to be significantly higher than for karyotyping. In January 2011 chromosomal microarray (CMA) analysis was made available as a first line test for appropriate referrals from all departments at Great Ormond Street Hospital and subsequently in March 2011 to all users across the NE Thames region. This represents a major transformation in our diagnostics provision and has removed the need for clinicians to refer patients and their families via Clinical Genetics for microarray analysis; this has resulted in a significant improvement in the patient testing pathway. The majority of samples received for testing are now analysed by chromosomal microarray.

3.3.2. Automation of Cell Harvesting, Slide Making and Staining Over the course of 2010-2011, the laboratories have procured four new pieces of equipment to enable semi-automation of the cell harvesting, slide making and staining process. These will help streamline the workflow and provide more consistency and reproducibility to chromosome preparations.

3.3.3. Solid Tissue Analysis 2010-2011 was the first full year for which a combined quantitative fluorescent PCR (QF-PCR) and multiplex-ligation dependent primer amplification (MLPA) service was offered for all pregnancy loss samples. The replacement of karyotyping with QF-PCR and MLPA has led to the dual benefit of significantly improved success rates (increasing from 83% to 94%) and reduced reporting times (21 days to 12 days).

3.4. Quality The laboratory completed the appropriate paperwork, clearing non-compliances, to maintain full accreditation following a CPA surveillance visit in February 2011.

The laboratory participated in the Cytogenetics UKNEQAS scheme including a chromosomal microarray pilot scheme and in a London Region External Quality Assessment scheme for solid tissue investigation using MLPA.

The laboratory also successfully applied for and gained UKGTN registered laboratory status.

The laboratory successfully migrated to the Q-Pulse Quality Management Software. This software package is used by the Molecular Genetics laboratory and other Pathology laboratories within Great Ormond Street Hospital. This will further the operational integration of the cytogenetics and molecular genetics laboratories.


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3.5. Molecular Genetics Service Staff List Molecular Genetics Staff 2010-2011

Lucy Jenkins FRCPath Head of Service

Sam Loughlin DipRCPath Deputy Head of Service

Emma Ashton PhD DipRCPath Head of Section - Clinical Scientist

Ann-Marie Differ Head of Section - Clinical Scientist

Fiona McKay DipRCPath Head of Section - Clinical Scientist

Alison Taylor DipRCPath Head of Section - Clinical Scientist

Clare Beesley PhD Registered Clinical Scientist

Shahnaz Bibi DipRCPath Registered Clinical Scientist

Cathy Meaney Registered Clinical Scientist

Sam McCall* DipRCPath Registered Clinical Scientist

Valerie Witt PhD Registered Clinical Scientist

Sarah Fielding Pre-Registration Clinical Scientist

Bethan Hoskins PhD Pre-Registration Clinical Scientist

Natalie Trump PhD Pre-Registration Clinical Scientist

Kunjan Patel Trainee Clinical Scientist

Leesa Morris Practitioner Trainee (Modernising Scientific Careers)

Lighta Godinho DNA Preparation Laboratory Manager

Brendan Martin Senior Medical Technical Officer

Solmaz Oskooei Senior Medical Technical Officer

Neesa Bhudia Medical Technical Officer

Toulla Hoskins Medical Technical Officer

Tom Linton-Willoughby Medical Technical Officer

Bhaneeta Mistry Medical Technical Officer

Louisa Steel Medical Technical Officer

Lech Stepkowski Medical Technical Officer


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Joseph Tsedeke Medical Technical Officer


3.6. Molecular Genetics Service Activity

Commissioned activity increased significantly during the year with a 7% and 31% rise above baseline for non-cancer genetic testing and cancer genetic testing respectively. Total laboratory activity also increased, a significant proportion of which includes NCG service activity for Bardet-Biedl syndrome, craniosynostoses, immunodeficiencies and lysosomal storage diseases.

Samples 2010-11 Number

Samples received 12439

Samples extracted 10649

Samples exported 2862

Reports Issued 2010-11 Number

Deafness 1226

Fragile X 1081

Cystic fibrosis 591

Cardiac genetics 638

Metabolic disease 460

Immunodeficiencies 407

Craniosynostoses 385

Imprinting disorders 190

Free fetal DNA analysis 103

Other 321

*TOTAL 5402

*Excluding Store Letters


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3.7. New Service Developments Eight gene dossiers were submitted and approved by UKGTN enabling the laboratory to expand its UK wide services.

Gene Disorder

CFHR5 Glomerulonephritis

CYP1B1 Primary Congenital Glaucoma

KCNJ10 EAST syndrome

MLL2 Kabuki syndrome

RMRP Cartilage Hair Hypolplasia

SRY Fetal sexing using non-invasive prenatal diagnosis (NIPD)

PAX3 Waardenburg syndrome

TGFBR1 and TGFBR2 Loeys-Dietz syndrome

3.8. Quality

The laboratory participated in the Molecular Genetics UKNEQAS 2010 scheme for fragile X, connexin 26, cystic fibrosis, Angelman/Prader-Willi syndromes, MCADD and for testing for maternal cell contamination in prenatal samples. The laboratory participated in the European Molecular Genetics Quality Network (EMQN) for connexin 26 and in an Australian sample exchange scheme for familial hypercholesterolemia. The laboratory also regularly provides audit data for activity, reporting times and workforce details to GOSH NHS Trust, the London Genetics Consortium, the Clinical Molecular Genetics Society and the UK Genetic Testing Network.

3.9. Continuing Professional Development 3.9.1. Modernising Scientific Careers

The laboratories participated jointly in the Department of Health pilot scheme for Modernising Scientific Careers. Led by the Chief Scientific Officer, this key work programme has been created to ensure flexibility, sustainability and modern career pathways for the healthcare science workforce and fit to address the needs of the future NHS. In a joint application with the NW Thames Regional Genetics Service, Northwick Park, two scientists were appointed to the Scientist Training Program (STP). One Practitioner Training Program (PTP) trainee was recruited to GOS.

3.9.2. Teaching Staff contributed to various formal teaching programmes e.g. MSc courses in Fetal Medicine and Clinical Biochemistry (UCL) and an intercalated BSc course in Genetics for Paediatricians (ICH, UCL). Staff also hosted laboratory visits from students on these courses as well as visits from obstetrics trainees and midwives with the NE Thames region as part of their laboratory practice training requirements.


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3.9.3. Meetings Attended

Date Scientific and Clinical Meetings Location Attendees

April 2010 The Development of Laboratory Standards for Non-invasive Prenatal Diagnosis Workshop

ICH, London 4

April 2010 CMGS Annual Spring Conference 2010 Oxford 3

April 2010 ACC Annual Spring Conference 2010 Oxford 4

June 2010 Signature Genomics Scientific Microarray Conference

Spokane, USA

1

July 2010 International Society for Prenatal Diagnosis Amsterdam 4

September 2010

BSHG 2010 University of Warwick

8

October 2010

The UK Pharmacogenetics and Stratified Medicine Network Meeting

Genome Campus, Hinxton

1

November 2011

RAPID Project Dissemination Meeting ICH, London 4

November 2011

UKGTN Conference – QIPP Supporting Genetics Services

London 3

November 2011

Lipid X Update Meeting Stratford upon Avon

1

December 2011

Revolution in Gene Identification: Clinical Impact of New Technologies

ICH, London 3

January 2011

Paediatric Epilepsy Research Retreat Surrey 1

January 2011

National Audit of the Management of Familial Hypercholesterolaemia

London 1

January 2011

Eye Genetics Meeting Oxford 1

January 2011

Deciphering Developmental Disorders Research Forum

Genome Campus, Hinxton

2


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Date Training and Technology Meetings Location Attendees

June 2010 4th Roche Genome Sequencer FLX User Conference

Athens, Greece

1

July 2010 New Technologies Salisbury 2

July 2010 Modernising Scientific Careers – Train the Trainers

Birmingham 1

March 2011 NIHR Healthcare Science Advisory Group Meeting

London 1

March 2011 Unclassified Variants – Best Practice Guidelines London 1

Date Teaching - Course Location Lectures

UCL MSc, Fetal Medicine UCL, London 2

UCL MSc, Paediatrics UCL, London 2

UCL MSc, Human Genetics UCL, London 1

UCL MSc, Clinical Biochemistry UCL, London 1

Date Examination Location

UCL PhD Viva UCL, London 2

3.10. Professional Duties

Selected Responsibilities

Nick Lench National Genetics Reference Laboratories

Steering Committee

Nick Lench NIHR Programme Grant (RAPID project) Steering Group

Lucy Jenkins FRCPath Genetics, Course Facilitator

Lucy Jenkins CMGS Executive Committee

Lucy Jenkins UKNEQAS Steering Committee

Lucy Jenkins Assessor, Association of Clinical Scientists

Jonathan Waters RCPath Council

Jonathan Waters Chair, RCPath Specialist Advisory


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Committee, Genetics and Clinical

Embryology

Jonathan Waters RCPath Healthcare Science Curriculum

Committee

Jonathan Waters DH National Healthcare Genetics School Board

Jonathan Waters ACC/CMGS Genetics Education and

Training Board

Jonathan Waters BSHG Scientific Programme Committee

Ann Jackson Assessor, Association of Clinical Scientists

4. RESEARCH AND DEVELOPMENT

4.1. RAPID (Reliable accurate prenatal non-invasive diagnosis)

The service is working with Professor Lyn Chitty, UCL Institute of Child Health to further develop non-invasive prenatal diagnosis. The RAPID project is funded by a 5 year NIHR programme grant and the main aim of the study is to improve the quality of NHS prenatal diagnostic services by evaluating early non-invasive prenatal diagnosis (NIPD) based on cell free fetal (cff) DNA and RNA in maternal plasma.

4.1.1. Collection and Processing of Samples

Many of the key technical challenges associated with developing NIPD tests arise from the relatively low abundance (around 5-10%) and small fragment size of the fetal DNA. Consequently, it is critical to maximise the yield and quality of cffDNA at every step of the collection and processing pathway. This is particularly important in the UK where genetics services are distributed throughout the country and samples require transportation to central laboratories for analysis. The RAPID team at GOSH and UCLH have undertaken a study to explore various factors that might influence the yield of cffDNA by looking at the effect of 1) the time interval between maternal blood draw and separation of plasma, 2) blood storage temperature prior to preparation of plasma, and (iii) cell-free DNA.

4.1.2. Pilot EQA Scheme

A pilot EQA scheme for fetal sex determination was conducted in collaboration with UK NEQAS for Molecular Genetics and the National Genetics Reference Laboratory (Manchester). The pilot involved four laboratories that each tested 3 anonymised samples. The assessors gave feedback on report style and test results. An expanded pilot EQA scheme is being undertaken in 2011 as part of the Eurogentest 2, FP7 programme in collaboration with RAPID.

4.1.3. Free Fetal DNA Extraction Workshop

A free fetal DNA extraction workshop for all UK laboratories interested in NIPD has been completed. Thirteen laboratories from around the UK participated. The workshop had three objectives: 1)


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comparison of 3 DNA extraction kits; 2) comparison of SRY and DYS14 real-time PCR assays side by side; 3) comparison of real-time PCR and digital PCR.

4.1.4. Diagnosis of Single Gene Disorders

As part of the RAPID project we are developing NIPD for some single gene disorders. The ability to provide a definitive diagnosis both earlier in pregnancy and more safely by avoiding invasive tests will have significant benefits for parents. At present, NIPD for single gene disorders is limited to cases where an autosomal dominant mutation is carried on the paternal chromosome or has arisen de novo at conception. For autosomal recessive conditions, it is possible to determine if the fetus is at risk or not by detecting or excluding the paternal allele if the parents carry different mutations. The absence of the disease causing paternal mutation in the amplified cffDNA indicates that the fetus is not affected. Presence of the mutation will indicate that the fetus is at 50% risk and further testing is required to determine whether the maternal mutation has been inherited too. We are offering NIPD for some conditions on a research basis. Before more widespread implementation is possible, rigorous laboratory and clinical standards need to be developed. This is a major work theme of the RAPID Programme. To date we have successfully used NIPD in the diagnosis of some of the autosomal dominant genetic conditions that affect bone growth including:

• achondroplasia

• thanatophoric dysplasia

• Apert syndrome

4.2. Next Generation Sequencing

Emma Ashton was awarded a prestigious NIHR CSO Healthcare Scientist Postdoctoral Fellowship to develop diagnostic applications of next generation sequencing – this part time fellowship is funded for 4 years. The work will focus on the development and implementation of targeted re-sequencing approaches to diagnostic gene panels in a number of disease areas including nephrology, inherited cardiac conditions and severe combined immunodeficiencies. The laboratories have invested in the Fluidigm Access Array system for the generation of multiple amplicons for DNA sequencing in conjunction with the Roche GS Junior benchtop sequencer. The department has established collaborative links with UCL Genomics and GOSgene (http://www.ucl.ac.uk/ich/services/lab-services/gosgene) to facilitate the improved integration of translational activities.

4.3. Chromosomal Microarrays

A number of collaborative and in-house projects have focussed on the use of standard, high-density and custom microarrays to define specific chromosomal anomalies. These have included projects with the UCL Institute of Neurology investigating adult and childhood epilepsies, UCL Institute of Child Health (hyperinsulinaemia) and UCL Mental Health Sciences (schizophrenia).

Rubin Wang was awarded a CPA bursary to investigate the use of qPCR for the confirmation and follow up of chromosomal microarray findings.


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5. PUBLICATIONS, ABSTRACTS & PRESENTATIONS

Selected Publications Abbaszadeh F, Barker KT, McConville C, Scott RH, Rahman N. A new familial cancer syndrome including predisposition to Wilms tumor and neuroblastoma. Fam Cancer. 2010; 9(3):425-430. Adalat S, Bockenhauer D, Ledermann SE, Hennekam RC, Woolf AS. Renal malformations associated with mutations of developmental genes: messages from the clinic. Pediatr Nephrol. 2010; 25(11):2247-2255. Epub 2010 Jul 6. Antoniou AC, Beesley J, McGuffog L, Sinilnikova OM, Healey S, Neuhausen SL et al. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Cancer Res. 2010; 70(23):9742-9754. Epub 2010 Nov 30. Baple E, Palmer R, Hennekam RC. A microdeletion at 12q24.31 can mimic beckwith-wiedemann syndrome neonatally. Mol Syndromol. 2010; 1(1):42-45. Epub 2010 Jan 11. Belligni EF, Palmer RW, Hennekam RC. MECP2 duplication in a patient with congenital central hypoventilation. American Journal of Medical Genetics A. 2010; 152A(6):1591-1593. Bitner-Glindzicz M, Osei-Lah V, Colvin I, Sirimanna T, Lucas D, Mac Ardle B, Webb D, Shankar A, Kingston J, Jenkins L, Rahman S. Aminoglycoside-induced deafness during treatment of acute leukaemia. Arch Dis Child. 2010; 95(2):153-155. Brain CE, Creighton SM, Mushtaq I, Carmichael PA, Barnicoat A, Honour JW, Larcher V, Achermann JC. Holistic management of DSD. Best Pract Res Clin Endocrinol Metab. 2010; 24(2):335-354. Chitty LS, Griffin DR, Meaney C, Barrett A, Khalil A, Pajkrt E, Cole TJ. New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma. Ultrasound Obstet Gynecol. 2011; 37(3):283-289. Duff K, Paulsen J, Mills J, Beglinger LJ, Moser DJ, Smith MM, Langbehn D, Stout J, Queller S, Harrington DL; PREDICT-HD Investigators and Coordinators of the Huntington Study Group. Mild cognitive impairment in prediagnosed Huntington disease. Neurology. 2010; 75(6):500-507. Epub 2010 Jul 7. Engel C, Versmold B, Wappenschmidt B, Simard J, Easton DF, Peock S et al. Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2010; 19(11):2859-2868. Epub 2010 Oct 26. Fassone E, Duncan AJ, Taanman JW, Pagnamenta AT, Sadowski MI, Holand T, Qasim W, Rutland P, Calvo SE, Mootha VK, Bitner-Glindzicz M, Rahman S. FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. Hum Mol Genet. 2010; 19(24):4837-4847. Epub 2010 Sep 21. Frost JM, Monk D, Stojilkovic-Mikic T, Woodfine K, Chitty LS, Murrell A, Stanier P, Moore GE. Evaluation of allelic expression of imprinted genes in adult human blood. PLoS One. 2010; 5(10):e13556. Hill M, Finning K, Martin P, Hogg J, Meaney C, Norbury G, Daniels G, Chitty LS. Non-invasive prenatal determination of fetal sex: translating research into clinical practice. Clin Genet. 2011; 80(1):68-75. Epub 2010 Sep 15.


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Hill M, Taffinder S, Chitty LS, Morris S. Incremental cost of non-invasive prenatal diagnosis versus invasive prenatal diagnosis of fetal sex in England. Prenat Diagn. 2011; 31(3):267-273. Epub 2011 Jan 4. Isidor B, Pichon O, Redon R, Day-Salvatore D, Hamel A, Siwicka KA, Bitner-Glindzicz M, Heymann D, Kjellén L, Kraus C, Leroy JG, Mortier GR, Rauch A, Verloes A, David A, Le Caignec C. Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. Am J Hum Genet. 2010; 87(1):95-100. Epub 2010 Jun 17. Manchanda R, Abdelraheim A, Johnson M, Rosenthal AN, Benjamin E, Brunell C, Burnell M, Side L, Gessler S, Saridogan E, Oram D, Jacobs I, Menon U. Outcome of risk-reducing salpingo-oophorectomy in BRCA carriers and women of unknown mutation status. BJOG. 2011; 118(7):814-824. Meaney C, Norbury G. Non-invasive prenatal diagnosis. Methods Mol Biol. 2011; 688:155-172. Middleton A, Turner GH, Bitner-Glindzicz M, Lewis P, Richards M, Clarke A, Stephens D. Preferences for communication in clinic from deaf people: a cross-sectional study. J Eval Clin Pract. 2010; 16(4):811-817. Epub 2010 Jun 14. Mitra AV, Bancroft EK, Barbachano Y, Page EC, Foster CS, Jameson C et al. Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study. BJU Int. 2011; 107(1):28-39. Epub 2010 Sep 14. Nopoulos PC, Aylward EH, Ross CA, Johnson HJ, Magnotta VA, Juhl AR, Pierson RK, Mills J, Langbehn DR, Paulsen JS; PREDICT-HD Investigators Coordinators of Huntington Study Group (HSG). Cerebral cortex structure in prodromal Huntington disease. Neurobiol Dis. 2010; 40(3):544-554. Epub 2010 Aug 2. Osorio A, Milne RL, Alonso R, Pita G, Peterlongo P, Teulé A et al. Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2. Br J Cancer. 2011; 104(8):1356-1361. Epub 2011 Mar 22. Orth M, Handley OJ, Schwenke C, Dunnett SB, Craufurd D, Ho AK, Wild E, Tabrizi SJ, Landwehrmeyer GB; Investigators of the European Huntington's Disease Network. Observing Huntington's Disease: the European Huntington's Disease Network's REGISTRY. PLoS Curr. 2010; Sep 28;2. pii: RRN1184. Ramus SJ, Kartsonaki C, Gayther SA, Pharoah PD, Sinilnikova OM, Beesley J et al. Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst. 2011; 103(2):105-116. Epub 2010 Dec 17. Raymond FL, Whittaker J, Jenkins L, Lench N, Chitty LS. Molecular prenatal diagnosis: the impact of modern technologies. Prenat Diagn. 2010; 30(7):674-681. Rooryck C, Diaz-Font A, Osborn DP, Chabchoub E, Hernandez-Hernandez V, Shamseldin H, Kenny J, Waters A, Jenkins D, Kaissi AA, Leal GF, Dallapiccola B, Carnevale F, Bitner-Glindzicz M, Lees M, Hennekam R, Stanier P, Burns AJ, Peeters, H, Alkuraya FS, Beales PL. Mutations in lectin complement pathway genes COLEC11and MASP1 cause 3MC syndrome. Nat Genet. 2011;43(3):197-203. Epub 2011 Jan 23. Shaw AC, van Balkom ID, Bauer M, Cole TR, Delrue MA, Van Haeringen A, Holmberg E, Knight SJ, Mortier G, Nampoothiri S, Pušeljić S, Zenker M, Cormier-Daire V, Hennekam RC. Phenotype and natural history in Marshall-Smith syndrome. Am J Med Genet A. 2010; 152A(11):2714-2726.


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Slade I, Bacchelli C, Davies H, Murray A, Abbaszadeh F, Hanks S et al. DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. J Med Genet. 2011; 48(4):273-278. Epub 2011 Jan 25. Slade I, Stephens P, Douglas J, Barker K, Stebbings L, Abbaszadeh F, Pritchard-Jones K; FACT collaboration, Cole R, Pizer B, Stiller C, Vujanic G, Scott RH, Stratton MR, Rahman N. Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene. J Med Genet. 2010; 47(5):342-347. Epub 2009 Nov 30. Slatter MA, Angus B, Windebank K, Taylor A, Meaney C, Lester T, Norbury G, Hambleton S, Abinun M, Flood TJ, Cant AJ, Gennery AR. Polymorphous lymphoproliferative disorder with Hodgkin-like features in common γ-chain-deficient severe combined immunodeficiency. J Allergy Clin Immunol. 2011; 127(2):533-535. Epub 2010 Nov 20. Soneson C, Fontes M, Zhou Y, Denisov V, Paulsen JS, Kirik D, Petersén A; Huntington Study Group PREDICT-HD investigators. Early changes in the hypothalamic region in prodromal Huntington disease revealed by MRI analysis. Neurobiol Dis. 2010; 40(3):531-543. Epub 2010 Aug 2. Tan NH, Palmer R, Wang R. Evaluation of the efficacy of constitutional array-based comparative genomic hybridization in the diagnosis of aneuploidy using genomic and amplified DNA. J Obstet Gynaecol Res. 2010; 36:19-26.

Taylor A, Bayly G, Patel K, Yarram L, Williams M, Hamilton-Shield J, Humphries SE, Norbury G. A double heterozygote for familial hypercholesterolaemia and familial defective apolipoprotein B-100. Ann Clin Biochem. 2010; 47(5):487-490. Epub 2010 Aug 24. Taylor A, Wang D, Patel K, Whittall R, Wood G, Farrer M, Neely RD, Fairgrieve S, Nair D, Barbir M, Jones JL, Egan S, Everdale R, Lolin Y, Hughes E, Cooper JA, Hadfield SG, Norbury G, Humphries SE. Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project. Clin Genet. 2010; 77(6):572-580. Epub 2010 Mar 13. Turnbull C, Hines S, Renwick A, Hughes D, Pernet D, Elliott A, Seal S, Warren-Perry M, Gareth Evans D, Eccles D; Breast Cancer Susceptibility Collaboration UK, Stratton MR, Rahman N. Mutation and association analysis of GEN1 in breast cancer susceptibility. Breast Cancer Res Treat. 2010; 124(1):283-288. Epub 2010 May 30. Vandersteen AM, Hennekam RC. Mental retardation, premature balding, small genitalia, small acra and small patellae in brothers: confirmation of an entity. Eur J Med Genet. 2010; 53(5):314-317. Epub 2010 Jul 30. Van Esch H, Rosser EM, Janssens S, Van Ingelghem I, Loeys B, Menten B. Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14. J Med Genet. 2010; 47(10):717-720. Epub 2010 Aug 3. Wang X, Pankratz VS, Fredericksen Z, Tarrell R, Karaus M, McGuffog L et al. Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers. Hum Mol Genet. 2010; 19(14):2886-2897. Epub 2010 Apr 23.


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Whitaker HC, Kote-Jarai Z, Ross-Adams H, Warren AY, Burge J, George A et al. The rs10993994 risk allele for prostate cancer results in clinically relevant changes in microseminoprotein-beta expression in tissue and urine. PLoS One. 2010 ; 5(10):e13363.

Selected Presentations

April 2010

CMGS/ACC Meeting, Oxford

Fielding S. Proof of Principle for the Non-Invasive Prenatal Diagnosis of Fetal Trisomy 21. Spasic-Boskovic, O. Evaluation of the use of 4x44K CytoChip – Oligo arrays for the diagnosis of constitutional imbalances.

June 2010

Signature Genomics Scientific Microarray Conference, Spokane, USA

Lench N. Diagnostic experience with a high resolution, high throughput array CGH platform (NimbleGen 12x135K). Lench N. Multiplex Ligation-Dependent Probe Amplification (MLPA) or Array CGH: Reliable and Cost Efficient Alternatives for Fetal Chromosome Analysis? September 2010

The British Society of Human Genetics Annual Meeting, Warwick

Palmer R. An approach to the analysis of aCGH data from multiplex microarray platforms in a clinical laboratory setting using the InfoQuant CGH Fusion and oneClickCGH software packages. October 2010

Manchester Dysmorphology Conference

Hurst J. The clinical features of Frank-Ter Haar syndrome in 5 children from the same family.

Beales P, Lees M. Identification of 3MC syndrome genes reveals a novel role for complement pathway components in development and disease.

November 2010

Fluidigm European Roadshow, London

Fielding S. Improved first level screening for autosomal dominant hypercholesterolaemia using the Fluidigm BiomarkTM platform.


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Selected Abstracts September 2010

The British Society of Human Genetics Annual Meeting, Warwick

Barrett, Chitty. Improving non-invasive prenatal determination of fetal sex; a comparison of two DNA extraction methods. Compton, Hill, Lewis, Morris, Chitty. Non-invasive prenatal diagnosis of single gene disorders: an exploration of views and preferences gathered from people who will use these tests. Differ, Patel, Bitner-Glindzicz, Lench, Jenkins. Testing for digenic inheritance in SCL26A4 heterozygotes. Fielding, Taylor, Jenkins, Lench. Improved first level mutation screening for autosomal dominant hypercholesteroleamia using the Fluidigm BioMark platform. Fielding, Taylor, Patel, Bayly, Waise, Luvai, Norbury, Humphries, Jenkins, Lench. Identification of two patients who are double heterozygotes for familial hypercholesterolaemia and familial defective apolipoprotein B-100. Hill, Taffinder, Finning, Martin, Hogg, Meaney, Daniels, Morris, Chitty. Non-invasive prenatal diagnosis for fetal sex in clinical practice: accurate information, fewer invasive tests and no additional health care costs. McKay, Jenkins, Bitner-Glindzicz, Lench. Development of a molecular genetic diagnostic service for Waardenburg syndrome Type1 and Type 3. Meaney, Barrett, Chitty. Non-invasive prenatal diagnosis of single gene disorders: an aid to the confirmation of fetal ultrasound findings. Palmer, Lees, Morrogh, Shaw, Wang, Waters. Further evidence of overgrowth and craniosynostoses in the chromosome 9q22 microdeletion syndrome. Patel, Taylor, Gilmour, Cale, Jenkins, Lench. A diagnostic service for X-linked hyperproliferative syndrome type 2. Shaw, Palmer, Barnicoat, Bitner-Glindzicz, Kumar, Male, Waters, Lees, Chitty. Array CGH in patients with cleft lip and/or palate. White, Dent, Hall, Crolla, Chitty. Facilitating implementation of NIPD: a modified protocol to detect the universal fetal DNA marker RASSF1A. Williams, Bruce, Side, Rosser. Provision of support within a regional genetics service for BRCA carriers: results from a patient information evening. July 2010

15th International Conference on Prenatal Diagnosis and Therapy, Amsterdam

Barrett, Zimmermann, Wang, Holloway, Chitty. Implementing non-invasive prenatal diagnosis into clinical practice: how should maternal blood be taken and prepared?


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Chitty, Akolekar, Levett, Kistler, Liddle, Nicolaides, Ballif, Shaffer. MLPA or aCGH: reliable, cost-efficient alternatives for fetal chromosome analysis? Hill, Taffinder, Norbury, Chitty, Morris. Non-invasive prenatal diagnosis of fetal sex: impact on clinical practice, costs and cost-effectiveness. Lench, Meaney, Barrett, Chitty. Implementing non-invasive prenatal diagnosis into clinical practice: impact on pregnancy management.


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