What happens at a genetic clinic?


An individual or family may be referred to a genetic clinic because the doctors looking after them suspect that there is or might be a genetic component to an illness. The genetic clinic appointment is there to attempt to identify if this is the case. You will be expected to bring all the relevant medical records including scans and any other investigations to the appointment.

All doctors follow a method to reach a diagnosis of a disease. This involves four steps namely taking a history, examination, investigations and treatment/ management.

There are some differences between other medical appointment and a visit to the genetics clinic. The questions that will be asked include taking your family history in detail and performing an examination looking for some rare features that help with reaching a diagnosis. In some patients, their height and other body measurements will be taken. Photographs are taken of some patients and the reason to be included as part of the medical record about the person who has been seen. In some cases a request will be made for showing the photographs to another doctor as a aid to diagnosis or occasionally to teach medical students or doctors. You have a right to refuse to have your photograph taken or used for any other purpose than what you agreed and your request will be respected.

Families are encouraged to discuss specific issues regarding the diagnosis of a genetic disease and obtain information they need to make decisions about investigations that need to be done for diagnosing the condition.

Once a diagnosis is made, a discussion will follow regarding what it means for the future care of the affected person as well as what implications there may be for the condition happening again in another family member. Your doctor will also be informed (with your consent) of the diagnosis and the discussion that followed.

You may also be asked to discuss the diagnosis with other family members and sometimes ask them also to visit the genetic clinic. In some cases this is not possible, and if this is the case with your family, you should tell this to the doctor.

Go to top