Clinical Genetics
We are part of the Oxford Regional clinical genetics service, based at Northampton General Hospital, and serve the population of Northamptonshire. We offer a comprehensive service supporting individuals and families undergoing investigation for new and inherited genetic conditions.
We have a wide range of specialist diagnostic expertise, and our genetic counsellors offer support, providing information about managing genetic conditions and the risk of developing or passing on a condition which runs in your family.
We can help you understand more about your diagnosis, its implications and can support you to make decisions and plan for the future. Our clinics are held weekly at Northampton General Hospital and Kettering General Hospital and monthly at nene park outpatient clinic in Irthlingborough.
The team
Consultant:
Dr Jenny Carmichael BSc, MBChB, MRCP, PhD, MRCP
Genetic Counsellors:
- Sarah Durell
- Elaine Butlet
Secretaries:
- Janet Dunford
- Sarah Allen
- Kizzie Thompson
- Katie Earl
Referrals
You can be referred to Genetics by your GP, a hospital doctor or a specialist nurse or midwife. Referrals need to be in writing and sent to the following address:
Department of Clinical Genetics
Child Health Directorate
Northampton General Hospital
Cliftonville
Northampton
NN1 5BD
We can accommodate the choose and book system for appointments, and will offer a choice of appointments at your nearest hospital, or alternatively you can be seen in Northampton.
We also offer telephone consultations in appropriate circumstances.
If you are pregnant, and there is a family history of a genetic disorder in the family please seek an urgent referral either from your GP, midwife or hospital specialist looking after you or your family, and we will arrange to see you as soon as is appropriate.
If your referral concerns a family history of cancer, then your referring doctor needs to ask you to complete a family history questionnaire, found at: http://www.ouh.nhs.uk/services/referrals/genetics/documents/cancer-questionnaire.doc This family history questionnaire needs to be sent with the referral letter to Oxford and ensures that we can give you an accurate assessment of your risks and recommendations for managing your risks at your appointment. If you are concerned that your situation requires an urgent referral please ask your doctor to refer you urgently via our fax number above.
Where are genetics clinics located?
The location of your clinic appointment will be specified in your appointment letter.
Who will I see at my genetics clinic appointment?
You will be seen by a member of the medical genetics team - a doctor (a consultant or a specialist registrar) or a genetic counsellor.
How long is the appointment?
Most genetic appointments are 45 minutes long, so you should not feel rushed. Please bring someone with you for support if you wish. If more than one member from the family has been referred and you would like to be seen together let us know. In certain situations it is helpful to see members of the extended family who may have information relevant to the genetic condition in the family.
What will happen at my appointment?
The details of your appointment will vary depending on the reason for your referral but will often include:
In some situations, tests (such as blood tests) may be offered. Sometimes you will be able to provide a sample on the day. At other times you will be asked to take some time to come to decision about whether to proceed with a test and offered the opportunity to come back at a later date.
At the end of the appointment a plan will be made. This may include information gathering, special tests and/or another appointment.
A genetic test may be offered:
- To correctly diagnose a disorder in a patient who has features/symptoms - this is termed 'Diagnostic testing'. This in turn can help to inform decisions on treatment, surveillance and risks to other members of the family.
- To determine whether an asymptomatic individual is at risk of developing a disorder later in life - this is termed 'Predictive testing'
- To find out if an unborn baby is likely to be born with or develop a serious or life threatening condition - this is termed 'prenatal diagnosis'
What will happen after my appointment in the genetics clinic?
We will write to the referring doctor (your specialist or GP) with a summary od the consultation and the advice given and any plans which have been made (e.g. for further investigation or follow up). You will usually be sent a letter summarising what was discussed at the appointment and what plans were made. If anything is unclear, you should contact the doctor or counsellor whom you saw in clinic.