Patient Information

What is Clinical Genetics?

Clinical Genetics is concerned with how genes and heredity affect human health. It is the specialty concerned with the diagnosis of inherited disorders and birth defects, with the estimation of genetic risks and with genetic counselling of family members.
 

Orkney link to BRCA1 gene variant - Support is available

Published in the European Journal of Human Genetics and funded by the Medical Research Council, leading geneticists from the North of Scotland Genetic Service working together with colleagues from the University of Edinburgh have linked a variant in the gene BRCA1 to a historic origin in Westray, Orkney. Find out more. 

What is Genetic counselling?

Genetic counselling is the process which gives patients and their relatives advice about inherited disorders and risk of inheriting a disorder, including what testing is available, prevention and management.
It involves the provision of diagnosis, information and support by health professionals with specialised training in genetics and counselling.

Families or couples may be referred to a genetic counselling clinic for a number of reasons. Some of these reasons include:

  • If they have a genetic condition and are worried about their family history of the known condition
  • If they have a family history of an inherited disease
  • If they have other risk factors for a genetic condition
  • If they have had interfamily marriage
  • If they have birth defects
  • If they have had a child with congenital malformation
  • If they have had several stillbirths or miscarriages
  • If they are pregnant after the age of 35

 

How the counselling process works

The process usually starts with a doctor referring a patient to the genetic clinic. There may be one appointment or several, depending on the circumstances.

The initial consultation

A genetic counsellor needs information about you and your family to measure the risk for any inherited condition. Therefore during the initial appointment, we take a record of all the questions you have and take a more detailed family medical history and use the information to generate a family tree. This may involve sending a letter or questionnaire to the patient and may sometimes involve visiting patient?s homes to acquire in depth family history.

Clinic Appointment

After the initial appointment, the genetic counsellors may need more medical details from other doctors relating to the patient or family members. Based on enquiry the clinical geneticist might also carry out a physical examination during the appointment, and may ask for consent to take photos. Photos are taken to aid consultation with other doctors.

Once the counsellor has established your risk, other options available such as genetic testing, information about the risks, limitations, benefits and other effects of being tested are made known to the patient. Follow-up is also provided which could be by letter, phone call or further genetic clinic visits or referral to another medical clinic.

The genetic clinic appointment usually lasts for about an hour. Although some patients may require one session, others will require several sessions if they are pursuing genetic testing or for additional action. Some patients may be offered further appointments.

Published: 28/11/2023 11:10