Referrals/Tests/Studies

Referrals/Guidelines

Referrals usually come from GPs or hospital specialists. If in doubt if a referral would be appropriate contact one of the clinical staff via our secretary on 01382 632035. Guidelines have been issued by the Scottish Executive to help identify those families with a family history of breast colon or ovarian cancer who should be referred to the genetics clinic. Care Pathways have also been written for people with Myttonic dystrophy, Marfan Syndrome, Hungtinton’s Disease, Neurofibromatosis Type 1 and Tuberous Sclerosis.

Tests

Before any tests are carried out the nature and reason for the test is explained and discussed with the patient.

Tests may take the form of a clinical examination, a specific investigation or a blood test depending on the nature of the genetic condition.

Contrary to popular belief there is not a simple blood test for most genetic disorders. When there is a blood test for a condition this may not be readily available to all the families affected by a condition.

Clinical Studies

The vast majority of work in the clinical genetics department is entirely clinical and is not research. However, we are approached by research groups from time to time and there is some collaboration with research groups with the ultimate aim of benefit to patients.

If a patient meets the criteria for entry to a particular study they would be invited to participate on a voluntary basis. A patient would not be entered into a study without full discussion and agreement to participate.