The Clinical Genetics Service has a central department at St Michael's Hospital in Bristol and satellite units at the Royal United Hospital in Bath, the Gloucester Royal Hospital in Gloucester and Musgrove Park Hospital in Taunton.

Key updates

The British Society for Genetic Medicine have developed information leaflets on COVID-19 to support patients with rare genetic disorder and their families and carers, which can be accessed here.

Aims of the service

The Clinical Genetics service aims to provide people affected by, or at risk of a genetic condition with accurate information, counselling support and genetic testing as appropriate to each individual. 

The objectives of the service are:

• To assist with making an accurate diagnosis of a genetic condition within the family
• To arrange and interpret genetic tests
• To provide full and accurate information to families about the condition
• To give information to families about the risks of the condition occurring in themselves or in their offspring, and the tests available to them
• To provide genetic counselling support
• To refer families to other professionals if appropriate 
• To facilitate research opportunities for patients and families related to the cause and impact of genetic conditions

Genetic counselling

Because diagnosis and testing will often have an impact on the wider family, the genetic counselling process includes an explanation and risk assessment with any available options for family members.

Situations where genetic counselling may be appropriate include:

• Where a genetic disorder is known or suspected. This can include many adult or paediatric conditions such as neurological and cardiac conditions or a strong family history of cancer
• After the birth of a baby who has health problems caused by a genetic condition
• After recurrent miscarriage, stillbirth, or death of a baby, particularly if the baby was found to have physical problems
• Where a child within the family has delayed development, particularly if the child also has other health problems or unusual physical features 

It may take time to adjust to new diagnoses and to decide on the best possible course of action. Our team will provide up-to-date information. We suggest requesting a review appointment when the affected person and family members reach reproductive age, and before a new pregnancy. Please note that testing, risk-reducing options and research opportunities change over time.

Specialist services

Joint clinics (genetics and other specialties) include:

• Genetic Eye Clinic (Ms Kathryn Billet, Miss Churchill) 
• Skeletal Dysplasia Clinic (Prof Smithson/Dr Burren/Mr Turner) 
• Highly Specialised Osteogenesis Imperfecta (OI)  Service  (Dr Burren/Prof Smithson/Mr Thomas/ /Dr Clinch/Specialist Therapy Team)
• Barth NHS National Specialised Service (Multidisciplinary team-Dr Pierre/Dr Chronopoulou/DrTunstall/Dr Pieles/Professor Newbury-Ecob/Sarah Buston/Miss Hayley Smith/Liv Benett (administrator) /
• Inherited Cardiac Condition Service (Dr K Low, Professor R Newbury-Ecob, Dr G Stuart, Dr S Curtis, Ms Nina Edwards)
• Paediatric Renal Genetics Clinic (Dr L Bownass/Dr C Platt)
• SW Cleft Service-complex orofacial clefts and craniofacial malformation syndromes (Prof Smithson)

Research

Our team is actively involved in recruiting to genetic research studies, including the 100,000 Genomes Project (as part of the West of England Genomic Medicine Centre), and a number of other studies related to specific genetic conditions and cancers. 

Medical Team

Dr Alan Donaldson, Consultant Clinical Geneticist and Clinical Lead

Specialist areas: Cancer genetics, haemoglobinopathies

Professor Sarah Smithson, Consultant Clinical Geneticist 
Specialist areas: Dysmorphology and skeletal dysplasias

Professor Ruth Newbury-Ecob, Consultant Clinical Geneticist
Specialist areas: Dysmorphology, cardiac genetics, congenital malformations and foetal medicine

Dr Ingrid Scurr, Consultant Clinical Geneticist
Specialist areas: Dysmorphology, Cantu syndrome

Dr Andrew Norman, Consultant Clinical Geneticist
Specialist areas: Neurogenetics

Dr Karen Low, Consultant Clinical Geneticist
Specialist areas: Dysmorphology, cardiac genetics, KBG syndrome

Dr Ana Beleza, Consultant Clinical Geneticist
Specialist areas: Dysmorphology, skeletal dysplasias, craniofacial malformations and fetal medicine

Dr Lucy Bownass, Consultant Clinical Geneticist
Specialist areas: Cancer genetics, renal genetics

Dr Bruce Castle, Locum Consultant Geneticist

Dr Katharine Edgerly, Specialty Registrar in Clinical Genetics

Dr Joanna Kennedy,Specialty Registrar in Clinical Genetics

 

Genetic counselling team

Sarah Pugh, Lead Genetic Counsellor  MSc, PgDip (Genomic Medicine), GCRB 184

Base: Bristol 

Sarah Buston, Principal Genetic Counsellor MSc, GCRB 139

Base: Bristol

Sally Monks, Principal Genetic Counsellor MSc, GCRB 266

Base: Bristol 

Jo Affleck, Genetic Nurse Counsellor RN, HV, MSc, GCRB 100 

Base: Gloucester

Kate Barr, Genetic Counsellor MSc, GCRB 390 

Base: Bristol

Kathryn Billett, Genetic Counsellor MSc

Base: Bristol 

Nicola Jackson, Genetic Counsellor  MSc, GCRB 383

Base: Bristol 

Margaret James, Genetic Nurse Counsellor  RN, MSc, PgCert (Genomic Medicine)

Base: Taunton 

Fiona Keepin, Genetic Counsellor  MSc, GCRB 362

Base: Gloucester

Catherine King, Genetic Nurse Counsellor  RN, MSc, GCRB 160

Base: Bath

Nicola Lerpiniere, Genetic Counsellor  MSc, GCRB 215

Base: Bristol

Ann Oliver, Genetic Counsellor RN, HV, PgCert (Genomic Medicine)

Base: Bristol

Amanda Pichini, Genetic Counsellor  MSc, PgCert (Genomic Medicine), (C)CGC, GCRB 403

Base: Bristol

Katherine Smith, Genetic Counsellor MSc, GCRB 155

Base: Bristol

Amy Watford, Research Genetic Counsellor  MSc

Base: Bristol

Janice Bailey,Pre-registration Genetic Counsellor  RN, MSc

Base: Bristol

Leah Buckley,Pre-registration Genetic Counsellor RN, PgCert (Genomic Medicine)

Base: Bristol

Megan Rogers, Pre-registration Genetic Counsellor  MSc

Base: Bristol

Phuong Vo, Pre-registration Genetic Counsellor   MSc, PhD

Base: Taunton

Emma Charlton, Trainee Genomic Counsellor (STP)  BA Hons. (Cantab.)

Base: Bristol

Poppy Emmett, Trainee Genomic Counsellor (STP)  MSc

Base: Bristol

 

Administration Team

Service Managers:

Sara Kirby, Performance and Operations Manager

Sharon Lock, Performance & Admin Manager

 

Medical Secretaries:

Laura Bryant, Medical Secretary to Dr Scurr and Dr Bownass: Tel: 0117 342 5653

Deborah Carr, Medical Secretary to Dr Norman and Dr Low: Tel: 0117 342 5316

Rosie Milner, Medical Secretary to Dr Beleza and Dr Kennedy: Tel: 0117 342 5652

Tina Edwards, Medical Secretary to Professor Newbury-Ecob and Professor Smithson: Tel: 0117 342 5552

Joanna Waters, Medical Secretary to Dr Donaldson and Dr Edgerley: Tel: 0117 342 

Deborah Staton, Secretary to Dr Donaldson, Jo Affleck and Fiona Keepin (Gloucestershire Royal Hospital): Tel: 0300 422 5517

Alison White, Secretary to Margaret James and Phuong Vo (Musgrove Park Hospital): Tel: 01823 342 592

 

Genetic Counsellor Medical Secretaries: Tel: 0117 342 5337

Robyn Hendy, Secretary to Genetic Counsellors

Christine Hallnan, Secretary to Genetic Counsellors

Christina Fowler, Secretary to Genetic Counsellors

 

Clinic Co-Ordination Team:  Tel: 0117 342 5107

Gerry Budd, Clinic Co-ordinator

Benjamin Collins-Bishop, Clinic Co-ordinator

Beverly Dyer, Clinic Co-ordinator

Dorothy Denton, Clinic Co-Ordinator

 

Cancer Genetics Co-Ordination 

Katy Ashton, Cancer Genetics Co-ordinator: Tel: 0117 342 5560

Emma Farrell, Assistant Cancer Genetics Co-ordinator: Tel: 0117 342 5381

How can I be referred to the Clinical Genetics service?

Families or individuals may be referred to the Clinical Genetics service by any health professional (for example a Hospital Consultant, GP or midwife). If you would like to be referred, you should discuss your concerns with your GP or other healthcare professional. If they feel you would benefit from a genetic assessment, or that you meet our referral criteria, they can then refer you to us.

What happens after a referral is made?

The Clinical Team assess all referrals received:

1) You may be assessed as requiring an appointment with either a Genetic Counsellor or a Consultant Geneticist and placed on our waiting list.

2) Some patients may in the first instance be contacted by a Genetic Counsellor by phone, in order to answer any questions you may have about the referral, discuss the condition (if known), and obtain a family history. The family history may extend as far back as your grandparents if possible, although we know in some families the history is unclear or unknown. 

3) We may discuss obtaining further information prior to your appointment, including medical records or records from family members (with appropriate consent). 

4) Following on from this, an appointment may be made for you to see a Consultant Geneticist or Genetic Counsellor. This may take place at your nearest satellite hospital site, or at a specialist clinic in Bristol.

5) If, after assessment, we feel that a clinic appointment is not necessary we can provide advice by letter to your referring doctor or health care professional.

6) If you have a family history of cancer, please see our Cancer Genetics page for more information about this referral process.

What can I expect for my appointment?

At your genetics clinic appointment you can expect that:

• The details of your family medical history will be discussed
• When appropriate, family members may have a clinical examination. If the patient referred is a child, they will usually be examined and measured.
• Sometimes blood samples may be taken
• You may be asked if photographs can be taken, to keep in the family record as a memory aid
• You will have a general discussion about possible diagnosis, risks for the future and the options that may be available to your family
• You may be invited to take part in research. You would not be obliged to take part and the care you receive would not be affected by your decision.
• On occasions there may be medical students, a genetic counsellor, or other doctors sitting in on clinics as part of their teaching programme

We usually allocate between 30 minutes to 1 hour for clinic appointments.

Who should attend the clinic appointment?

You may bring anyone you wish to the appointment. If the referral is for a child, please bring that child along with you. The doctor will sometimes need to examine you or your child. If you need any additional assistance such as an interpreter, we will try to arrange it for you.

What will happen after the appointment?

At the end of the appointment a plan will be made going forward. This plan may include testing, information gathering and/or another appointment. Following your appointment you will usually be sent a letter that summarises the discussion. We will also write to your GP and any other specialists who are looking after you.

What if I am unable to attend the appointment?

Please let us know if you need to cancel or change your appointment by contacting us. 

 

Referrals

If you are a patient looking to get in contact with the Clinical Genetics service please call the numbers provided on the 'Our Team' page to contact the staff member or team you require. 

Information for clinicians:

GP's should make routine referrals to the Clinical Genetics Service through the ERS system.

Routine secondary care referrals can be made by secure email to UHBristolClinicalGenetics@uhbw.nhs.uk (within the Trust) or ubh-tr.clinicalgeneticsuhb@nhs.net (via a secure nhs.net account), or by letter addressed to the Clinical Genetics Service at:

Bristol Regional Clinical Genetics Service
Level B
St Michael's Hospital
Southwell Street
Bristol
BS2 8EG

Where applicable and to provide accurate advice for your patient, please provide details of any relatives affected with a genetic condition, including their names. 

Urgent referrals

The Clinical Genetics Service provides a service for urgent referrals and advice. This is available Monday - Friday, 9am - 5pm.

Antenatal referrals

• For all antenatal referrals, please download and complete the Urgent Prenatal Referral form and send by secure email to Ubh-tr.clinicalgenetics@nhs.net or UHBristolClinicalGenetics@uhbw.nhs.uk. If the referral is being made by GPs, please send this via the ERS system.

• To provide accurate advice for your patient, please provide details of any relatives affected with a genetic condition or who have had genetic testing, including their names.  Please also detail what the patient's objectives are for the referral.

• If you have any questions about whether an antenatal referral is appropriate for your patient or have any other antenatal genetic-related queries, please contact us and ask to speak with the on-call Genetic Counsellor.

PICU/NICU referrals

• For urgent enquiries please contact us and ask to speak to the On-Call Consultant. It will not always be possible to speak to the doctor on-call straight away, but a call back will be made as soon as possible. 

Any other urgent referrals

• For any other referral that you deem urgent, please refer using the standard referrals pathway but ensure the referral is marked as urgent. 

• If you have any questions about an urgent referral please call and ask to speak with the on-call Consultant or Genetic Counsellor on 0117 3425107

Cancer Genetics referrals

Patients referred with a personal and/or family history of cancer will be triaged for one of the following:

• A family history questionnaire will be sent to the patient to gather more information and confirm cancer diagnoses in the family to inform risk assessment.
• The patient will be added to our waiting list for an appointment with a genetic counsellor or consultant.
• If the patient is deemed not to be at significantly increased risk of cancer, a letter will be written to the referring clinician and they will not be offered an appointment.

If genetic testing has already taken place in the family, please provide details of any relevant relatives, including their names.

For unaffected individuals genetic testing for cancer usually requires the identification of a genetic change in an affected family member, so it may be more appropriate for an affected family member to be seen and assessed first by their local genetics department.

Rapid Access Cancer Clinic (RACC)

We have the RACC as a dedicated clinic to see certain patients with cancer as a priority. This includes:

• Patients with breast cancer who fulfil the eligibility criteria where there is a decision to be made regarding surgery soon.
• Patients with non mucinous ovarian cancer
• Patients with life limiting diagnosis for DNA storage (prior to normal triage),

Please refer using the standard referrals pathway but make it clear in the referral why it is prioritised, and consider storing blood DNA at the time of referral.

You can download the DNA banking consent form, information leaflet, as well as information for clinicians here. Genetics request forms for the Bristol Genetics Laboratory can be accessed here. 

Exclusions

The Clinical Genetics service receives a high volume of referrals some of which can be appropriately managed in primary or secondary care. We are only able to offer appointments to those within our referral criteria.

Referrals for the following conditions are not being accepted:

• Hypermobility unless additional features or a genetic mutation has been identified in the family. Further information can be found here.
• Haemochromatosis. Testing can be done in primary care and consider referral to haematology/hepatology as appropriate. Please see our pathway document for further information.
• Familial Hyperlipidaemia. Referrals and queries should be made to the FH Specialist Service.
• Suxamethonium sensitivity.
• MTHFR variants.
• Discussion of results of private genetic testing, except in instances where evidence that the variants are pathogenic is provided.
• Couples requesting carrier testing for reproductive purposes in which the population carrier frequency is less common than 1/70, or where there are no known common variants.
• Relatives of patients with genetic cardiac conditions requiring heart checks should be referred to the local Inherited Cardiac Conditions team at the Bristol Heart Institute or to their local cardiologist (ideally with a specialist interest in inherited cardiac conditions) in the first instance. Please only refer to Clinical Genetics if a genetic alteration has been identified in a relative, and please provide that information with the referral.

Genetic Testing

NHS England is implementing a Genomic Medicine Service (GMS), involving collaborative working between clinical services including Clinical Genetics, laboratories and Genomics England. This includes the introduction of a National Genomic Test Directory, which specifies the genetic and genomic tests that are commissioned by NHS England for patients with rare diseases and cancers. You can find out more about the available tests and eligibility criteria on the Test Directory website.

Testing will be delivered through a network of seven Genomic Laboratory Hubs (GLHs). In our region, this is delivered by the South West Genomic Laboratory Hub (SW GLH). If you have questions about what testing may be appropriate for your patient, you may wish to discuss with the SW GLH and/or consider referral to our service.

Bristol Regional Clinical Genetics Service
Level B
St Michael's Hospital
Southwell Street
Bristol
BS2 8EG

Tel: 0117 342 5107

For Patients: If you are a patient looking to get in contact with the Clinical Genetics service please call the numbers provided on the 'Our Team' page to contact the staff member or team you require. 

For clinicians: ubh-tr.clinicalgeneticsuhb@nhs.net / UHBristolClinicalGenetics@uhbw.nhs.uk

Telephones are manned 9am to 5pm, Monday to Friday.
An answerphone will be in use out-of-hours, weekends and bank holidays.

Satellite departments:

Bath:
No local administrative support, please use Bristol contact details

Taunton:
Clinical Genetics
Musgrove Park Hospital
Taunton
TA1 5DA
Tel: 01823 342592

Gloucestershire:
Clinical Genetics
Gloucestershire Royal Hospital
Great Western Road
Gloucester
GL1 3NN
Tel: 03004 225517

Useful Links

Syndromes Without A Name (SWAN) UK  - Support and information to families of children with undiagnosed genetic conditions

Unique - Supporting, informing and networking families and individuals affected by rare disorders

Rare Disease UK - The national alliance for people with rare disease & all who support them

Genetic Disorders UK - support and information for those affected by a genetic disorder, and the charities and patient groups that support them

Contact - A charity for families with disables children

Genomics England - Set up to deliver the 100,000 Genomes Project, and continuing to support the NHS Genomic Medicine Service

Antenatal Results and Choices (ARC) - National charity helping parents and healthcare professionals through antenatal screening and its consequences

Macmillan Cancer Support - Information and support for individuals affected with cancer, their family members and health and social care professionals

British Heart Foundation - Providing information and support, and funding research for cardiovascular conditions

Cardiomyopathy UK - A national charity for individuals and family members affected by cardiomyopathy

Marfan Trust - Information and support for individuals and family members with Marfan Syndrome

Hypermobility Syndromes Association - Supporting individuals with hypermobility and the healthcare professionals who support them

Genomics Education Programme - Information and resources to prepare current and future NHS professionals to make the best use of genomics in their practice