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Information for patients

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.