Peninsula Clinical Genetics

 

Peninsula Clinical Genetics is hosted by the RD&E and covers the whole of Devon, Cornwall and the Isles of Scilly.

People are referred to us because they or a family member might have a genetic condition.

More on what we do

Peninsula Clinical Genetics has a team of consultants, genetic counsellors and nurses and support staff.

We are involved in the diagnosis of genetic conditions. For example, we see children born with congenital anomalies (something that is unusual or different at birth) to see if they have an underlying genetic cause. As other examples, we see people with possibly heritable cancer, neurological and cardiac conditions.

We offer genetic counselling. This involves helping people to understand and adapt to the medical and psychological implications of genetic conditions. It is not the same as standard counselling. Genetic counselling involves taking a full family history and gathering lots of medical details. We then make an assessment of the likelihood of developing that condition and explain what that means.

Where possible, we discuss things people can do to lower their risk, for example, screening in those with an increased chance of developing cancer or a heart condition.

Genetic testing may be offered. 

Another part of our service is Cancer Genetics. A small number of cancers are the result of an inherited predisposition. We assess family histories and arrange genetic testing, where indicated, to identify families where there is an increased chance of developing cancer.

It's important to note that although a condition may be genetic, it does not always mean it has been inherited - there may not be anyone else in the family with the same disorder.

The Exeter Genomics Laboratory and the Peninsula Clinical Genetics Service together form the Academic Department of Genomic Medicine.

Treatments

Depending on the reason for referral, one or more of the following things might happen:

  • You might not need an appointment – the consultant may review your case and provide advice for the referrer.
  • You might be sent a family history sheet to complete. Please complete this with as much information as possible and send it back to us. Please don’t worry if you can’t fill it all in.
  • You will be sent an invitation to make an appointment with the genetic counsellor/nurse or consultant, if necessary.
  • The clinic appointment will be tailored to your situation. Usually you will be asked about your family history and medical history. You might be examined. Sometimes we ask to take photographs (with your permission) for your medical records. Further investigations, including genetic tests, can be offered.
  • Usually you will be sent a letter after your appointment summarising what was discussed.
  • If appropriate, we will refer you to other specialists for screening, treatment or ongoing management.
  • If there is a suitable research study, we will inform you about it and you will have the option to participate. If you choose not to, it will not affect your care in anyway.

Our team

Consultant Clinical Geneticists: Dr Emma Baple, Dr Carole Brewer, Dr Bruce Castle, Dr Ruth Cleaver, Dr Emma Kivuva (Lead Clinician), Dr Julia Rankin, Dr Charles Shaw-Smith, Dr Claire Turner, Dr Anna Znaczko

Specialty Registrars: Dr James Fasham, Dr Lettie Rawlins

Principal Genetic Counsellors: Dr Matilda Bradford, Miss Sarah Gibson

Genetic Counsellors / Nurses: Mrs Sandra Cookson, Miss Harriet Copeland, Ms Sarah Everest, Ms Vicky Hunt, Miss Makaela Jacobs-Pearson, Miss Aamisha Kyada, Mrs Nicol Lambord, Miss Susan Louw

STP Trainee Genetic Counsellors: Miss Samara Delamere, Mrs Lisa Massimo

Cluster Manager: Mrs Kath Maguire

Admin Line Manager: Mrs Charlotte Carpenter

Where to find us

RD&E Heavitree, Gladstone Rd, Exeter EX1 2ED

We also have satellite offices at Derriford Hospital, Plymouth and Treliske Hospital, Truro.

Contact us

The main number for the department is 01392 405745.

The appointments numbers are 01392 405729 and 01392 405730.

Children and young people

We see people of all ages. In some hospitals children are seen in dedicated paediatric outpatient clinics; in other locations we see people of all ages in the same clinic.

Clinics

Clinics are held at the RD&E's Heavitree site. We also hold clinics in the main hospitals across the region, in Plymouth, Truro, Torbay, Barnstaple, and at many community hospitals.

We aim to see people as close to their home as possible. Your appointment letter will state where the clinic is.

If you are unable to attend your appointment please telephone our Appointment’s Team on 01392 405729 / 405730 as soon as possible so that we can rearrange your appointment and offer the cancelled slot to another person.

Supporting you

There are a large number of Patient Support Groups for people and families with genetic conditions. Below are links to some.

The Clinical Genetics Consultant or Genetic Counsellor / Nurse will be able to tell you about other specific support groups relevant to your personal circumstances.

Information for healthcare professionals

We accept referrals for people resident in Devon, Cornwall and the Isles of Scilly. We accept out of area referrals for patients having other care at RD&E.

For all urgent referrals, for example involving a pregnancy or terminal illness – please email rde-tr.pcgreferrals@nhs.net and mark as urgent.

GP referrals should be made through ERS. We provide advice and guidance through the A&G system for GPs.

For non-GP referrals please or email rde-tr.pcgreferrals@nhs.net or write to Clinical Genetics, Royal Devon and Exeter Hospital, Gladstone Road, Exeter, EX1 2ED.

Please include all relevant information in the referral, including names and DOB of affected relatives. If possible, please send a completed family history sheet (available under 'Patient leaflets and documents') with all referrals.

We accept referrals for suspected monogenic genetic conditions, syndromes, strong family history of cancer etc.

We do not usually see patients regarding:

  • Hyperlipidaemia – please direct to the Lipid Clinic
  • Hypermobility EDS, unless features that suggest an alternative diagnosis - please see this letter for more details
  • Direct to Consumer test results (unless there is a family history that would warrant referral anyway)

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