Clinical Genetics

Genetics Counselling

At Tays, we provide genetic counselling and organise related tests. The most common reason for seeking genetic counselling is a disorder, syndrome or malignant tumour diagnosed in the client or his or her close relative, known or suspected to be of genetic origin.

Medical genetics studies diseases and injuries that are caused by changes in individual genes or genetic material. Most genetic diseases are very rare, but because there are over 4,000 different genetic diseases, some health problem due to genes will emerge at some stage in the life of approximately 1–4 % of the population.

We study and diagnose diseases and syndromes caused by changes in the genome in patients of all ages. The analyses are usually done in collaboration with other health care units and hospitals.

We provide patients and their families genetic counselling and organise related follow-up tests. Patients coming to counselling usually have questions related to family planning, the risk of oneself or family members of falling ill or specific features and prognosis of a disease. Many patients seeking genetic counselling are healthy but want information on individual risk or the significance of genetic tests in their case.

The topics of physicians' consultations usually include the diagnostics of rare diseases and syndromes, abnormalities of a foetus or a child already born, or the interpretation of the results of genetic tests. The outpatient clinic does not have the resources to provide genetic counselling on multi-factorial common diseases, such as diabetes, asthma or hypermobility.

Seeking genetic counselling

Genetic counselling and the related studies are always voluntary, and they are only performed at the patient's request. Counselling and genetic tests require a physician's referral, which can be obtained from your local health centre, family counselling centre, occupational health care, a private practice or specialised health care. The referral should have as accurate contact information as possible, a clearly formulated question and information about possible earlier genetic tests on the patient or relatives.

Based on the referral, we will study the patient's problem by collecting information from medical histories and family histories. The preliminary study may involve analysis of the treatment histories of relatives. We ask the patient to request the permission to read them.

Sometimes we may even conduct a diagnostic or specifying gene or chromosome test on the patient before the outpatient clinic visit. In this way, we gain as clear an understanding of the nature and genetic model of the disease or syndrome as possible.

Visiting Tays

At the Genetic Outpatient Clinic, the patient usually meets a nurse and a genetic physician, and enough time will be reserved for the appointment to talk to both of them. In the counselling, a genetic physician or expert nurse will discuss the cause and the pathogenic mechanism of the pertinent disease or injury, the results of the genetic tests, treatment options and the prognosis.

Genetic counselling will always begin based on the patient's own questions and values. The task of the physician or nurse is to help and support the patient or family to form a holistic picture of the matter. This provides the patient the possibility to consider the different follow-up studies, observation and treatment options in his or her personal case.

Genetic tests

Genetic tests are carried out to find or specify a diagnosis or to confirm predisposition to a disease. A blood sample is usually sufficient for a genetic test. The sample will be studied in a genetics laboratory in Finland or abroad. In genetic tests, we also collaborate with other domestic medical research groups.

Gene tests are voluntary to patients, and they should always have a medical basis. The results usually take several weeks or a few months, but urgent genetic tests, e.g. related to a pregnancy, may be ready by as soon as 1–2 weeks. The patient will be informed of the results at a new appointment, or sometimes via a letter or over the phone upon agreement.

Follow-up observation

Genetic counselling or a diagnostic analysis includes 1–2 visits to the outpatient clinic. A written statement, i.e. information on treatment, is usually created after counselling or consultation and given to the patient and the referring physician. The information on treatment usually also comments on the need for follow-up studies, observation or genetic counselling for close relatives. When necessary, follow-up observation is arranged for a disease or injury.