Dr Helen Firth
Consultant Clinical Geneticist


GMC number: 

Dr Helen Firth is a Consultant Clinical Geneticist at Cambridge University Hospitals Trust.

Special Interests

She is interested in the application of new genomic technologies to improve the diagnosis of severe developmental disorders and is Clinical Lead for the UK-wide Deciphering Developmental Disorders project (ddduk.org ) and co-author of Oxford Desk Reference Clinical Genetics (OUP 2005) and Oxford Handbook of Genetics (OUP 2010).

General clinics

The Hinchingbrooke Genetics clinic is held on the 4th Tuesday of the month. The morning clinic is held in the Treatment centre and the afternoon clinic is in the Children’s Out-patient clinic at Hinchingbrooke Hospital. The team consists of Dr Helen Firth and a genetic counsellor.

Specialist clinics

The paediatric genetics clinic is held weekly in the children’s outpatient clinic (clinic 6) at Addenbrooke’s Hospital on Monday mornings. The clinic team consists of Dr Helen Firth, a Specialist Trainee and Genetic Counsellor supported by the paediatric nursing team and play therapist based in clinic 6. There are strong links with the Paediatric services at Addenbrooke’s Hospital across the whole range of paediatric sub-specialty interests (eg. neonatology, paediatric neurology, child development, cleft team etc.).

Most children come to the paediatric genetics clinic for help with making a genetic diagnosis. They may have a number of seemingly unconnected medical/surgical problems and be under the care of several specialist teams. In the clinic we will try to determine whether there is likely to be an underlying genetic explanation linking the child’s medical/developmental problems - a condition may be genetic in origin even if there is no family history of similar problems.

The clinic also sees children/families with an established genetic diagnosis who would like more information and up-to-date advice. Parents/ teenage patients can also discuss reproductive questions for example recurrence risk if they wish. We work closely with several support groups for children with genetic disorders and will offer to put children/their families in touch with a support group relevant to their diagnosis (where possible).