Clinical Genetics

Clinical Genetics Specialist training programme North Western Deanery 2013: Entry level ST3 


The Trust
Central Manchester and Manchester University Hospital NHS Foundation Trust (CMFT) is a major teaching Trust with six hospitals on three sites.  The six hospitals are Manchester Royal Infirmary (MRI), Manchester Royal Eye Hospital (MREH), and 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, and Trafford Hospitals.

The Regional Genetics Service (see also website
Genetic Medicine (Clinical Director; Rob Elles) is based on the 6th floor of St Mary’s Hospital  and incorporates the regional genetic service, biochemical genetics and the regional genetic and metabolic genetic laboratories. There are fifteen Consultant/Honorary Consultant Clinical Geneticists in the North Western Region, one Senior Clinical Medical Officer, seven SpRs/STs, twenty Genetic counsellors, a business manager, Directorate PA, secretaries and clerical staff.

Biochemical genetic clinical staff include six Consultant paediatricians specializing in Metabolic Disease, Clinical nurse specialists, Dieticians, paediatric SpRs and administrative and clerical staff.

Genetic Medicine also incorporates 3 NCG funded services; complex Neurofibromatosis 1, (NF1), Neurofibromatosis 2, (NF2),  and Lysosomal Storage Disorders with the associated nursing and support staff.

The Regional Genetics Service provides a comprehensive, integrated genetic service to a population of over 4.5 million and over 6,000 individuals per year attend genetic clinics.
Most of the genetic clinics are held in a dedicated clinical area within Genetic Medicine, but genetic clinics are also held at the MRI and at other hospitals throughout the region (Blackburn, Blackpool Victoria, Blackpool Blenheim House, Bolton, Burnley, Lancaster, Macclesfield, Oldham, Preston, Rochdale, Tameside). Consultant and SpR clinics are supported by Genetic Counsellors, who also provide independent counselling clinics for a number of specified disorders. Genetic records are maintained and housed within the clinical department.
In addition to the provision of general genetic clinics for adults and children, there are a number of sub-specialty clinics including dysmorphology, neuromuscular genetics, prenatal diagnosis, neuropsychiatric disorders, NF1,NF2, ophthalmic genetics, cancer genetics, cardiac genetics, renal genetics, deafness 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, SpR 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 Regional Genetics Family Register was established over 20 years ago and now incorporates 12 specific genetic disorders (HD, DMD, BMD, chromosome translocations, Fragile X, myotonic dystrophy, NF2,FAP, HNPCC, VHL, BRCA1/2, MEN).
The Register system aims to achieve complete ascertainment of certain mendelian and chromosomal disorders in order to provide diagnosis, investigation, counselling and follow up for affected families. The register is managed by a team which includes the Senior Clinical Medical Officer, a principal Genetic Counsellor, a Register Coordinator and a Register clerk, but all medical and counselling staff are involved in providing clinic consultations and follow up to families.

In addition to the clinical service provided, there is an active programme of clinical and laboratory research and service development within the department.

Clinical Department Staff:

Consultants Special Interests
Professor D Donnai Dysmorphology
Dr H Kingston Neuromuscular genetics
Professor G Evans  Cancer genetics, NF1 and NF2
Professor J Clayton-Smith  Dysmorphology, ophthalmic genetics, clefting disorders
Dr B Kerr Dysmorphology, renal genetics
Dr D Craufurd  Neuropsychiatric genetics
Professor G Black  Ophthalmic genetics
Dr K Metcalfe  Dysmorphology, cardiac genetics, prenatal genetics
Dr F Lalloo Lead clinician, Cancer genetics, endocrine neoplasias
Dr W Newman  Cardiac genetics, pharmacogenetics Genetics of common disorders
Dr K Chandler TPD, Dysmorphology
Dr S Huson  NF1, NF2
Prof Y Crow  Neurogenetics,, Dysmorphology
Dr E Jones  Cancer genetics, Dysmorphology
Dr H Murphy  Neurogenetics, Dysmorphology
Dr J Ealing (neurologist) Neurogenetics, NF1
Dr I Trender-Gerhard (neurologist) Neurogenetics, HD
Dr JE Wraith (paediatrician) Metabolic disease
Dr J Walter (paediatrician) Metabolic disease
Dr A Morris (paediatrician) Metabolic disease
Dr S Jones(paediatrician) Metabolic disease
Dr U Ramaswami (paediatrician) Metabolic disease
Dr E Jamieson (paediatrician) Metabolic disease

The Regional Genetics Laboratories are an integral part of the Regional Genetics service based at St Mary’s hospital and scientists with training in cytogenetics and molecular 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 comprehensive diagnostic services for a wide range of genetic disorders. They also lead and participate in European and UK quality assessment schemes for genetic testing.

The Academic Unit of Medical Genetics, University of Manchester
Clinical Academic staff include Dr D Craufurd (Clinical Senior Lecturer), Professor G Black, (Head of the institute of Human Development and Deputy Director of the Manchester BRC), Professor Y Crow, Dr W Newman (Clinical Senior Lecturer), Dr Rhona Macleod and Dr Tara Clancy (Honorary Senior Lecturers). Professors Gareth Evans, Jill Clayton Smith and Dian Donnai have honorary chairs with the University of Manchester.
There are a large number of research programmes investigating the molecular basis of human disease funded by the MRC, Wellcome Trust, the National Institute for Health Research, The European Union and other sources.  An MSc course in Genetic Counselling and an MRes in Genetic Medicine are run from the department which also hosts a number of MD, MPhil and PhD students. 
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.

Research and Innovation
The vision of CMFT is to become the leading integrated health, teaching, research and innovation campus in the NHS.  Genetic Medicine has reputation for high quality research in a number of areas including gene identification, collaborative clinical studies and treatment trials.  It is consistently the largest recruiter to NIHR portfolio adopted research studies.

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:
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 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 Genetics SAC curriculum are fulfilled. Appraisal will be undertaken every 6 months by the Educational Supervisor and ARCP assessment annually.

An introductory period of 4 weeks at the start of the 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.

Rotational Attachments

1/ Genetic Register organisation, file reviews and clinics with Dr Elizabeth Howard, Dr Susan Huson, 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). 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.

2/ Dysmorphology clinic attachment at St Mary's Hospital (SMH) with Prof Jill Clayton-Smith and other consultants. 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.

3/ Cancer genetic clinics at St Mary's Hospital with Professor Gareth Evans and Dr Fiona Lalloo, 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.

4/ Neurogenetic attachment includes a neuromuscular genetic clinic with Dr Helen Kingston and neuropsychiatric clinics, including Huntington's disease counselling and management clinics, with Dr Helen Murphy and Dr David Craufurd 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.

5/ Paediatric metabolic genetics includes attendance at clinics for inborn errors of metabolism and time spent in the Willink biochemical genetics laboratory. Experience of Cardiac genetics through weekly genetic counsellor and consultant- led clinics also form part of this module.

6/ The time table for the special interest module will be arranged flexibly to meet the needs of individual trainees, their clinical and research interests and their career plans. However this attachment also includes attendance at ophthalmic genetic and hereditary deafness clinics within the department and the opportunity to sit in on clinics in other specialties as required (e.g. craniofacial, lipid clinics, etc). Trainees will also be able to gain some experience of management during this rotation by sitting in on various departmental business meetings.

Weekly Timetable Sessions

Clinics: 2/3
Emergency clinic/consults: 1 session every 4 weeks
Clinic preparation: 2/3
Clinical meeting/audit: 1
Education/teaching: 2/3 (includes weekly genetic seminars, weekly paediatric and adult grand rounds, weekly departmental clinic meeting, monthly SpR teaching, weekly clinical slide meeting)
Research: 1-2
Flexible trainees 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 the clinical department which cover aspects of theoretical genetics, risk calculation, molecular and cytogenetics etc as required by the curriculum.

Trainees are also encouraged to participate in genetic counselling supervision sessions.
Other educational opportunities include:
- 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 will be expected to attend a variety of meetings/courses during their training to fulfil the requirements of the curriculum.
1/ Cambridge Fundamentals of Clinical genetics course
2/ Manchester 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, held in March (once in course of training).
9/ British Society for Human Genetics conference, held in September (once in course of training).

There will also be the opportunity to attend other meetings relevant to training needs, (subject to study leave and budget) 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 and an active interest and participation in research is encouraged. Each trainee will have an academic consultant research mentor. 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.


Trainees will present seminars within the department as well as at hospital Grand Rounds and will give lectures at medical postgraduate meetings as well as to medical undergraduates, trainee genetic counsellors, allied health professionals and parent groups. 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, including dysmorphology and neurogenetic, 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.

 Last updated: 11/02/2013