Genetic counseling

What is genetic counseling?

The purpose of genetic counseling is to provide relevant information to individuals or their families, in whom hereditary disease is present or if they are concerned about it. The purpose of counseling is to identify hereditary diseases, to organize diagnostic procedures and genetic testing in order to confirm these diseases and to prevent them.
All medical information of a visit to the clinical geneticist is confidential.

Reasons for the genetic counseling

  • A mental or physical developmental delay in a child or an individual
  • A child with a specific physical appearance, especially if he has a growth delay or difficulties with learning or moving
  • Common congenital anomalies at birth – for example cleft lip and/or palate, neural tube defects (spina bifida), congenital heart defect
  • A child or a person with multiple congenital abnormalities
  • Chromosomal abnormality in the family
  • A known or suspected metabolic disease
  • Families with known hereditary diseases with questions about the possibility of recurrence in offspring
  • Male and female infertility
  • Primary and secondary amenorrhea, absence of sperm cells in semen, abnormal sexual development
  • Information of any disease that occurs in the family in several generations, e.g. deafness, blindness, short stature
  • Neurodegenerative and musculoskeletal genetic disorders
  • Recurrent spontaneous miscarriages (three or more)
  • Consanguinity between partners
  • Pregnancy in women older than 37 years
  • Pregnant women exposed to certain teratogenic factors: medicines, chemicals, ionizing radiation, viral infections, alcohol, drugs
  • Pregnant women with a positive screening test for Down’s syndrome or other chromosomal abnormalities
  • To confirm a particular disease in the patient, or for those who have already exhausted all other diagnostic options
  • Positive family history of cancer (at least three cancer patients in the family or cancer in young patients)
  • DNA testing

What kind of help can I expect?

During the genetic counseling a doctor can help you in a variety of ways, for example:

  • explains what kind of investigations are available to confirm the diagnosis,
  • establishes or confirms diagnosis,
  • provides information on the disease and explain the inheritance pattern,
  • explains the probability for the developing a particular genetic condition in the future,
  • explains the probability that the children will develop a particular genetic condition that is present in the family,
  • discusses with you options of coping with the genetic condition and presents the possibilities of the medical, psychological and social support,
  • answers your questions about the identified genetic condition.

How can I prepare for genetic counseling?

To identify hereditary disease precise information on patient’s disease signs and symptoms (personal history) and disorders in the family (family history) is very important.
One of the key features of genetic counseling is creating a family tree (pedigree), which usually covers three generations. Before your visit to a clinical geneticist it is very important to obtain information on diseases in your relatives.
It is important that you collect all relevant personal health records and health records of affected relatives, in whom genetic condition may be present.
The same implies for genetic counseling of your child.
During genetic counseling the doctor often conducts a thorough physical examination and may recommend additional consultations with other specialists.

What happens after the genetic counseling?

In a few days after the genetic counseling you will receive a genetic consultation summary letter that contains the purpose of the genetic counseling, your personal and family history, results of any testing performed and information about any further genetic testing.
Depending on the results of genetic testing, you may be offered an additional genetic consultation, where a doctor will explain the results of a specific genetic test, a diagnosis and will refer you to further appropriate medical care.
Sometimes a one-time genetic consultation is not enough, and several genetic consultations are needed, even over a longer period of time.