Clinical genetics - North Western



Clinical Genetics Specialist training programme North Western Deanery 2017: Entry level ST3




The Trust

Manchester University NHS Foundation Trust (MFT) is a major teaching Trust with eight hospitals on three sites.  The six hospitals are Manchester Royal Infirmary (MRI), Manchester Royal Eye Hospital (MREH), St  Mary’s Hospital for Women and Children (SMH) and Royal Manchester Children’s Hospital (RMCH) all at the main Central Manchester site, the Dental Hospital also in Central Manchester, Trafford Hospital, North Manchester General Hospital (NMGH) and Wythenshawe Hospital.


The Trust underwent a major re-building programme and the completion of one of the largest PFI initiatives in the NHS in 2009.  With the movement of the Willink Biochemical Genetics Unit from RMCH joining the Regional Genetics Service all the components of genetic medicine are now co-located in a purpose-designed section of the new building.


The vision of MFT is to become the leading integrated health, teaching, research and innovation campus in the NHS.  In 2017 MFT has been awarded status by NIHR as a Biomedical Research Centre with expertise in a number of key areas including musculoskeletal,  and hearing loss. Our aim over the next 5 years is to ensure that MFT is one of the top 5 NHS Trusts for research and innovation in the U.K.  Our capacity for translation of research and innovation into improved patient care will be internationally recognised, both in its own right and in partnership with Manchester Academic Health Science Centre (  




The Manchester Centre for Genomic Medicine (MCGM) is based on the 6th floor of St Mary’s Hospital.  It provides a comprehensive, integrated genetic service to a population of more than 5.7 million and over 10,000 individuals per year attend genetic clinics.  It comprises the Clinical Genetics service, the Metabolic Genetics Unit, Genomic Diagnostic Laboratories and the Academic Unit of Medical Genetics.


The Clinical Genetics service staff comprise seventeen Consultant/Honorary Consultant Clinical Geneticists, covering a wide range of special interests:


Professor D Donnai (0.6 WTE) dysmorphology/management

Dr D Craufurd (0.6 WTE) neuro-psychiatric genetics

Professor G Evans (0.5 WTE) cancer genetics

Professor J Clayton-Smith (0.4 WTE) dysmorphology

Dr F Lalloo (1.0 WTE) cancer genetics

Dr K Metcalfe (1.0 WTE) dysmorphology/ cardiac genetics

Professor G Black (0.6 WTE) ophthalmic and molecular genetics

Professor B Kerr (1.0 WTE) dysmorphology /renal genetics/management

Professor W Newman (0.6 WTE) adult genetics/ Genome England study

Dr K Chandler (0.8 WTE) dysmorphology/skeletal

Dr E Jones (0.6 WTE) paediatric/dermatological genetics/tuberous sclerosis

Dr E Burkitt – Wright (0.8 WTE) NF1/Rasopathies

Dr Sid Banka (0.4 WTE) paediatric genetics

Dr Sofia Douzgou (1.0WTE) dysmorphology

Dr Tracy Briggs (0.2 WTE) paediatric genetics/immunology

Dr Emma Woodward (0.4 WTE) cancer genetics

Dr Audrey Smith (0.8 WTE) neurogenetics/adult genetics


MCGM also incorporates biochemical genetics with 6 (5.5 WTE) paediatric consultants in inherited metabolic medicine. Other clinical staff within MCGM include an Associate Specialist post associated with the Regional Genetic Family Register, and 22 Genetic Counsellors (18 WTE).


The clinical department has a genetic service manager, one PA, Quality and Operational managers, 15 secretaries, 6 administrative staff, 2 receptionists and 2 clinical support workers.


MCGM also incorporates 3 highly specialised funded services; complex NF1, NF2 and LSDs , with the associated nursing and support staff.


Referrals to the Regional Service are made by General Practitioners and Hospital Specialists throughout the North Western region and some bordering areas. Referrals made to the service are allocated to the most appropriate clinic according to the special interests of the consultants, the urgency of the request and the location of an appropriate peripheral clinic. All the administrative activity of the service is undertaken by staff at St Mary’s Hospital, including arranging appointments and undertaking the secretarial work involved. Family genetic records are kept within the department.


Genetic clinics are held in a dedicated clinical area in Genetic Medicine in St Mary’s Hospital, in the MRI and Royal Manchester Children’s Hospital and in other hospitals throughout the region. There are established genetic clinics held at a number of peripheral hospitals including Blackburn, Blackpool, Burnley, Lancaster, Macclesfield, Oldham, Preston, Rochdale and Tameside. Cancer genetic clinics are held at SMH and the two cancer centres in the region- The Christie Hospital and the Royal Preston Hospital. In addition to the provision of general genetic clinics for adults and children, there are a number of subspecialty clinics including those for neuromuscular, neuropsychiatric, ophthalmic, cardiac, cleft and cancer genetics. Within the clinical service there are natural formations of clinical teams, comprising consultants, genetic counsellors, laboratory staff and administrative staff. There are currently 7 clinical teams; neurogenetics, cancer genetics, cardiac genetics, ophthalmic genetics, developmental disorders, metabolic genetics and neurofibromatoses.


The location of the clinical genetics department in St Mary’s facilitates close liaison with the Regional Fetal Medicine Centre.


Genetic counsellors provide independent clinics for a wide range of genetic conditions and support some of the consultant clinics in particular for post-clinic follow-up.


The Regional Genetic Family Register is located within the Manchester Centre for Genomic Medicine, St Mary’s Hospital. The register aims to achieve complete ascertainment of individuals in families with certain Mendelian and chromosomal disorders in order to provide diagnosis, investigation, counselling and follow up for affected families. Through the register, families can also be made aware of research opportunities. The register is managed by a team that includes the Associate Specialist, a principal Genetic Counsellor and other staff under consultant supervision.


In addition to the provision of general genetic clinics for adults and children, there are a number of sub-specialty clinics including dysmorphology, prenatal diagnosis, neuromuscular genetics, neuropsychiatric disorders, NF1, NF2, ophthalmic genetics, cancer genetics, cardiac genetics, renal genetics, skeletal dyslasias and cleft palate clinics. Ward referrals are accepted from all hospitals on the Central site, but in particular, neonatal and paediatric referrals from St Mary's and RMCH. There is a weekly genetic urgency clinic with a rotating team of genetic counsellors, trainees and consultant to see urgent (mostly pregnancy associated ) referrals. A fetal examination service is also provided and there is input to the Fetal Management Team with a weekly multidisciplinary meeting and alternate monthly MDT  fetal pathology meeting. Fetal and paediatric post-mortem examinations are carried out on the Central site.


The Genomic Diagnostic Laboratories

Headed by Dr Lorraine Gaunt the Genomic laboratories form an integral part of the Regional Genetics service based at St Mary’s hospital. Over 130 scientists with training in laboratory genetics work closely with the clinicians to provide and develop genetic services.  The Willink laboratory for inherited metabolic diseases is also located within Genetic Medicine at SMH.  Together, the laboratories provide a comprehensive range of diagnostic biochemical, cytogenetic and molecular genetic tests, including the first clinical exome service within an NHS diagnostic laboratory. A portfolio of oncology somatic mutation tests are provided to direct appropriate prescription of targeted cancer drugs. They also lead and participate in European and UK quality assessment schemes for genetic testing


The University Centre for Genomic Medicine

There is an active programme of clinical and laboratory research and service development within MCGM, with integral links with Manchester University. The Manchester centre for Genomic Medicine leads for England the Scientist Training Programmes in Genomic Counselling, Genomics (lab staff) and Clinical Bioinformatics incorporating training of genetic counsellors, clinical scientists and molecular pathology trainees.


University staff within the MCGM are embedded in the Division of Evolution and Genomic Sciences in the School of Biological Sciences. The team of Professor Gareth Evans and Dr Miriam Smith (both cancer studies), Professor Graeme Black (ophthalmic genetics), Professor Bill Newman (rare disease genetics), Dr David Craufurd (psychiatric genetics), Dr Sid Banka (developmental genetics), and Dr Tracy Briggs (NIHR transitional fellow in immunogenetics). In addition, staff who are significantly involvement in teaching and research hold honorary University appointments. There are a diverse range of clinical research projects into the molecular basis of human disease funded by the MRC, Wellcome Trust, European Union and charitable sources.  There are close links with other Centres across the University of Manchester.


Greater Manchester Genomic Medicine centre

MCGM has been designated as the Greater Manchester Genomic Medicine centre, committed to recruiting patients with cancer and rare diseases to the NHS England 100,000 genome study. This project is led by Professor William Newman.  The study links with a number of major hospitals across the Greater Manchester geography including the Christie Hospital, UHSM and Salford Royal.


Training in Clinical Genetics

Entry to the specialty is at ST3 level. Completion of Foundation year competencies and of those in core medical training (CMT1 and 2) or level 1 paediatrics is essential. A broad range of experience in acute general medicine and/or paediatrics with exposure to unselected medical take is essential. MRCP, MRCPCH or equivalent are essential. The training programme in clinical genetics is four years (subject to satisfactory ARCPs), of which at least three years must be clinical training during which experience will be gained in all aspects of clinical genetics. The programme incorporates training in laboratory and theoretical genetics, genetic counselling and ethical issues, mathematical genetics and the use of genetic databases.


The formal working hours are 9am to 5pm. STs do not undertake on call duties and no banding allowance applies to this post


How the training programme works at MCGM


The training posts in clinical genetics consist of a modular programme rotating on a 6-monthly basis through the different sub-specialty clinics. Each module contains elements of general genetics (diagnostic and counselling), ward consults, emergency clinics, fetal examination and prenatal counselling for fetal abnormalities. Trainees take responsibility for cases of increasing complexity as experience is gained. There will also be participation in peripheral genetics clinics held in a number of hospitals throughout the Region.


The 6-month sub-specialty training attachments include paediatric genetics, dysmorphology and developmental disorders, cancer genetics, neuromuscular genetics and neuropsychiatric genetics, and cardiac genetics. In addition, experience will be gained through genetic register clinics, metabolic/biochemical clinics, genetic ophthalmology and deafness clinics and prenatal diagnostic/genetic urgency clinic sessions. These attachments are not allocated to specific years within the training programme.


It is expected that all trainees will gain experience in each sub-specialty area. There will be flexibility within the programme to take account of individual training needs. For most trainees time taken out of the programme for research will account for one year of the training. The final six months of the training programme will allow further flexibility for the trainee to address any deficient aspects of training and to where appropriate develop areas of special interest.


The trainee will be allocated an Educational Supervisor for the duration of their training to oversee their educational and career development needs as well as provide support as a mentor. An appropriate consultant will be their Clinical Supervisor during each module and will be available to discuss cases seen by the trainee both before and after the clinic appointment. Supervising consultants will confirm satisfactory completion of each training module. E-portfolio will be completed by all trainees to ensure that the requirements of the Clinical Genetics SAC curriculum are fulfilled. Appraisal will be undertaken every 6 months by the Educational Supervisor and ARCP assessment annually.


A 4 weeks induction period at the start of the training programme will enable the trainee to visit the various departments within Genetic Medicine, including the Molecular genetic and Cytogenetic laboratories, and to attend and observe a variety of clinics with the clinical supervisory consultants, as well as the more senior trainees and genetic counsellors to become familiar with the approach to genetic diagnosis and counselling and the facilities available within the department.


Outline of Rotational Attachments

  1. Developmental disorders and paediatric genetics clinic attachment at St Mary's Hospital (SMH) supervised by  consultants from the Developmental Disorders Team. A variety of known syndromes can be seen in follow-up clinics as well as referrals of children with developmental delay/learning disability and dysmorphic features. Cases seen in clinic are presented and discussed at the weekly consultant-led clinical slide meetings. Attendance at the monthly MDT developmental  disorders  meeting is expected during this attachment. Trainees are encouraged to be involved in writing up case reports and presentations at Regional and National Dysmorphology meetings.
  2. Cancer genetic clinics at St Mary's Hospital supervised by consultants and genetic counsellors from the cancer genetic team , seeing high risk families with breast/ovarian cancer, HNPCC, FAP, VHL, and MEN. There is also a specialist clinic for NF2 with Professor Evans.  Attendance at the monthly cancer team meeting is expected during this attachment.
  3. Neurogenetic attachment includes a neuromuscular genetic clinic supervised by Dr Smith at MCGM as well as Preston outreach genetics clinic. Neuropsychiatric  and inherited dementia clinics, including Huntington's disease counselling and management clinics, with Dr David Craufurd and Dr Howard at St Mary's Hospital and Manchester Royal Infirmary. During this rotation there will be the opportunity to attend the adult neuromuscular clinic run by the neurologist at Hope hospital and paediatric neurology clinics at RMCH. Attendance at the monthly neurogenetics/radiology MDT meeting is expected during this attachment.
  4. Cardiac genetics through weekly genetic counsellor and consultant- led clinics as well as involvement in the weekly clinical/laboratory MDT meetings.
  5. Paediatric metabolic genetics attachment includes attendance at clinics for inborn errors of metabolism and weekly metabolic team ward rounds at RMCH as well as time spent in the Willink biochemical genetics laboratory.
  6. Genetic Register reviews and clinics with Dr Elizabeth Howard, Dr John Ealing and other consultants at St Mary's Hospital. The main register conditions seen during this attachment are NF1, chromosome translocations, myotonic dystrophy and fragile X syndrome. Other register conditions will be seen during other rotations (eg the neurogenetics and cancer modules). This attachment also includes attendance at ophthalmic genetic  within the department and the opportunity to sit in on clinics in other specialties as required (e.g. craniofacial, skeletal dysplasia, TS, dermatogenetic clinics, etc). An attachment to the cytogenetic and molecular genetic laboratory and a two week attachment to the Fetal Management unit are also arranged during this module.
  7. Special interest module: The time table for this attachment will be arranged flexibly to meet the needs of individual trainees, their clinical and research interests and their career plans. It usually takes place during the final 6 months of the training programme. Trainees are also allowed time within their weekly schedule to gain some experience of management by sitting in on various departmental business meetings.


General Weekly Timetable

Out patient Clinics: 2.5 Sessions/week

Clinic preparation: 2.5 Sessions/week

Case review/clinical supervision/MDT meetings: 2 Sessions/week

Urgent referral clinic/consults: 1 week in every 4 weeks

Weekly Clinical meeting/Monthly audit meeting: 0.5 Session/week

Clinical administration: 1 Session/week

Formal education/teaching: 1 Session/week


LTFT training

Those trainees training less than fulltime (LTFT) will participate in the same rotational programme as full-time trainees with sessions allocated on a pro-rata basis. The training programme will be extended with modules repeated to ensure that training experience equivalent to that of full-time trainees is obtained.


Educational Opportunities

It is expected that trainees will attend:

  • weekly clinical multidisciplinary meeting which incorporate clinical presentations, case management and departmental management discussion, teaching and audit.
  • weekly slide discussion/ case management meetings
  • weekly departmental postgraduate genetic seminar programme
  • weekly paediatric and adult grand rounds at RMCH and MRI
  • a range of 2-monthly multi-disciplinary meetings with radiologists/neurologists/endocrinologists/pathologists
  • monthly departmental teaching sessions in conjunction with Mersey Clinical Genetics training programme  and so held at either site, covers  many different aspects of the curriculum.


Trainees are also encouraged to participate in genetic counselling supervision sessions.


Other educational opportunities include:

  • Enrolment in the Manchester University PGCert  in Genomic Medicine
  • Attendance at lectures given at Manchester University.
  • Attendance at other relevant postgraduate meetings, lectures and seminars within the Central Manchester Trust
  • Attendance at relevant meetings and symposia organised by the Manchester Paediatric and Medical Societies.


Courses and Meetings

Trainees have the opportunity to attend a variety of meetings/courses during their training to fulfil the requirements of the curriculum eg.

  1. Cambridge Fundamentals of Clinical genetics course
  2. Genetic Counselling course.
  3. Manchester Cancer Genetics course
  4. Management/Medical Leadership in Practice course (Deanery)
  5. Module 1 of PGCE in workbased medical education (Deanery)
  6. Research Methodology course, Good clinical practice  in research (Trust)
  7. Manchester Dysmorphology Conference and Clinical Dysmorphology meetings in London and Manchester
  8. Clinical Genetics Society meeting (once in course of training).
  9. British Society for Genomic Medicine conference (once in course of training).


Depending on study leave and budget there will also be the option to attend other meetings relevant to training needs, such as Skeletal dysplasia Group study days, M62 skeletal dysplasia meetings, Genethics club meetings. It may be possible for trainees to attend one European or American Genetics Society meeting to present their own research work.



The department has a strong academic record and a large body of academic Professors/Consultants as well as research active NHS consultants with varied interests. Hence there are excellent opportunities for trainees to undertake clinical and laboratory based projects during their training. All specialist trainees are encouraged to participate in research while in and out of programme and submit papers for publication throughout their training period. A number of trainees have recently undertaken successful training Fellowships leading to major impact publications and both national and international awards. . It is anticipated that trainees who have not already undertaken research leading to an MD or PhD prior to commencing clinical training, will consider taking time out of the training programme to undertake such research. This research is normally subject to obtaining funding from an outside research body and can be from 1 to 3 years' duration. A maximum of 1 year of research can be counted towards training for CCT. Each trainee who goes out of programme  is allocated an academic consultant research mentor for that time as well as receiving  on-going support from their educational supervisor.



Trainees will present seminars within the department as well as at hospital Grand Rounds and will give lectures at medical postgraduate meetings. There is ample opportunity to be involved in teaching medical undergraduates, trainee genetic counsellors, allied health professionals. Presentation of their own research work at National/International meetings is encouraged. Trainees are encouraged to attend teaching skills training courses organised by the Postgraduate Dean's Department or National Genetics Education Centre.


Audit and Clinical Governance

Trainees must participate in monthly audit meetings held in the clinical department at SMH, contributing to audit design, data collection and analysis. Each trainee will be expected to lead and complete at least one audit project during training and produce a report that will constitute part of the annual assessment process (ARCP).


Trainees will participate in departmental Clinical Governance activities, including development of guidelines and information leaflets held in the clinical department.



Trainees share purpose built offices with their own telephones and PCs with internet access. Genetic databases are available for use by trainees, together with other computer programmes such as Excel, PowerPoint and Word. Secretarial support is provided to each trainee by a specified Medical Secretary within the department.


There are close links between the NHS and University departments of Medical Genetics, and the University library is within 10 minutes walking distance of the genetics department. Reference books and journals are available within the genetics department library.

Clinical Genetics