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Clinical Genetics

Division: W&C

Consultants

Dr Alan Donaldson

0117 342 5316

Clinical genetics, cancer genetics, family testing in single gene disorders

Dr Ruth Newbury-Ecob

0117 342 5316

Clinical genetics, dysmorphology, cardiac genetics, congenital malformations, fetal medicine

Dr Andrew Norman

0117 342 5652

Clinical genetics, Neurogenics

Dr Francis Sansbury

0117 342 5653

Clinical genetics

Dr Ingrid Scurr

0117 342 5653

Clinical genetics, dysmorphology

Dr Sarah Smithson

0117 342 5652

Clinical genetics, dysmorphology, congenital malformations, fetal medicine, skeletal dysplasias

Dr Susan Tomkins

0117 342 5316

Clinical Genetics, cancer genetics, family testing in single gene disorders

Genetic Councellors

Sarah Pugh
Kath Smit
Stephanie Hamer
Sianan Keating
Nicola Lerpiniereh

0117 342 5337

Sally Monk
Cath King (RUH only)

0117 342 5329

Sarah Buston
Ann Oliver
Fiona Chamberlayne
Amanda Pichini

0117 342 5329

Kathryn Billett

0117 3425329

Access/ Referrals

General Information

We accept referrals from GPs, Consultants, Midwives and other health professionals. If you are in doubt please write with a brief outline, or telephone if urgent, and we will respond to your enquiry by telephone or in writing. Please write to us outlining the reason for referral. It is helpful if your patient is aware that they have been referred to the genetics service and the reason.

 

Clinic coordinators (non Family History Questionnaire (FHQ)):  0117 342 5115  or  0117 3425 107

Who to refer

A referral may be indicated if there is a possibility of a personal or family history of a genetic disorder, and where there is one or more of the following:

  • concern about a recurrence within a family,
  • implications for surveillance or other management
  • where there may be diagnostic doubt
  • sudden unexpected death

Urgent Referrals

If you are referring an individual for urgent advice, or if your patient is pregnant, please fax a referral to 0117 342 5108 and phone to confirm receipt.

Cancer Referrals

In order to make an accurate risk assessment, we need information about the types of cancer in the family and ages at diagnosis.

If there is an urgent need for risk assessment or DNA storage, e.g. in case of terminal illness, please fax us a written referral and we will contact the patient by telephone.

If you or your patient has any questions about this, please telephone.

Please note that genetic testing for a cancer family history is usually only possible where a blood sample is available from an affected relative.

Testing of 'at risk' individuals is only possible when a pathogenic mutation can been identified in the family. 

Cancer coordinators (FHQ) : 0117 342 5560 or  0117 342 5288

Link to NICE guidance for familial breast cancer: http://www.nice.org.uk/nicemedia/live/10994/30244/30244.pdf