Personalised counselling service for people suffering from, at risk of suffering from or transmitting to their offspring any disease with a genetic component: cancer, rare diseases, chromosomal diseases, etc.
What is genetic counselling?
Hereditary factors play an important role in many diseases. In the case of rare diseases, they are the main cause, as a genetic defect is behind about 80% of them. However, hereditary factors can also be of great importance in the development and evolution of other diseases (cancer, diabetes, cardiovascular diseases, mental illnesses…), in the response to drugs (pharmacogenetics) and in food metabolism (nutrigenetics).
During genetic counselling, the person is informed not only about the risks of hereditary diseases for him/herself, but also for close relatives, as well as the risk of disabilities, malformations and genetic diseases in future offspring.
Genetic counselling is a communicative process that serves to inform, educate and support patients and families with a suspected or confirmed diagnosis of genetic disease.
Counselling for all types of genetic diseases
Our specialists at Genosalut can offer counselling for the entire spectrum of genetic diseases as well as molecular genetic diagnostics for virtually all of them.
In up to 30% of infertility cases the cause may be genetic. At Genosalut we offer couples with fertility problems the genetic counselling necessary to understand the possibilities and limitations of genetic tests to determine or narrow down the cause of these problems.
We also have numerous tests available for the diagnosis of the genetic causes of male and female infertility. Once the results are obtained, we explain them to our patients and discuss the next steps with them.
The reasons for seeking this type of counselling are usually family or personal history, or the need for greater security on the part of the prospective parents. This type of counselling mainly addresses two issues:
This genetic counselling during pregnancy seeks to address one or more of the following issues:
- Need for increased safety
- Diseases present in the family in which a genetic component is known or suspected
- Problems detected during routine check-ups
Therefore the reasons for consultation are usually:
- History of infertility, multiple miscarriages or stillbirths
- Previous pregnancy or child affected by a birth defect or genetic condition
- Abnormal test results (first trimester screening, blood tests, ultrasound, chorionic villus sampling or amniocentesis)
At Genosalut we also have extensive experience in genetic disorders. If your child has any of the following symptoms, you can contact us and we will offer you advice:
- Abnormal results in neonatal screening tests.
- Presence of malformations detected after birth.
- Presence of metabolic disorders in the newborn baby.
- Intellectual or developmental disability.
- Short stature or growth faltering.
- Ambiguous genitalia or abnormal sexual development.
- Autism spectrum disorders.
- Vision or hearing problems.
- Behavioural problems of genetic origin, such as schizophrenia.
Apart from genetic counselling, at Genosalut we offer various tests, including: familial mutation, array CGH, exome or genome.
There are families in which certain types of cancer, especially breast cancer, ovarian cancer, prostate cancer or bowel cancer are more frequent. However, this frequent occurrence does not automatically mean that there is a genetic predisposition to suffer from it.
In our cancer genetic counselling we try to determine whether the criteria for the suspicion of hereditary cancer exist and inform you about the tests that can be performed and that we offer, the possible results and the implications of these tests.
At Genosalut we offer genetic counselling for rare diseases as well as different genetic tests for the detection of mutations associated with them.
Whether based on family or personal history, genetic counselling can also be used to determine the risk of suffering from certain conditions including cardiovascular diseases, psychiatric disorders, neurodegenerative diseases, etc.
Our value proposal
What does genetic counselling include?
Genetic counselling includes one or more of the following points:
- Clarification of your personal questions and the purpose of counselling
- Elaboration of your personal and family health history (anamnesis)
- Evaluation of existing medical results or reports
- Tests from saliva, blood or other tissues, if relevant to your question and considered necessary
- Medical-genetic diagnosis as accurate as possible
- Detailed information on the diseases or disabilities in question
- Assessment of specific genetic risks
- Assessment of general genetic risks
- Detailed advice on the possible relevance of this information to your life and family planning
Prevention and peace of mind with genetic counselling from Genosalut
How can I request an appointment for genetic counselling?
High maternal age in pregnancy
Anomalies diagnosed prenatally
Pregnancy exposure to infections, drugs, radiation or other teratogenic toxins
Birth of a child with congenital malformations or developmental disorders
Hereditary diseases of self or close relatives
Frequent miscarriages/ stillbirths
Unfulfilled desire to have children
High frequency of cancer in the family
Short stature or growth disturbances
Ambiguous genitalia or abnormal sexual development
Known carriers of a relatively common genetic condition, such as cystic fibrosis
Degenerative genetic diseases with onset in adulthood
Genetically-based behavioural problems, such as schizophrenia
No, no test is carried out without your active decision. Counselling should be an aid to decision-making. You decide what consequences you draw from the counselling session.
The options will depend mainly on the reason for the counselling and the decision is personal to the person who comes for counselling. Some people do not make any changes or undergo further testing based on genetic counselling.
The possibilities are:
- If any indicators of genetic risk have been detected prior to pregnancy, options include: pre-implantation diagnosis, prenatal diagnosis, egg or sperm donation, or adoption.
- If a genetic risk indicator is detected during pregnancy, the couple can: have the baby, undergo surgery while the baby is still in the womb, or terminate the pregnancy.
- If a genetic alteration that is (possibly) behind the health problems in the child is detected during infancy, parents can gain some diagnostic certainty that in some cases can be used to determine or improve therapies and treatments.
- If a disease-related risk indicator has been detected in adulthood, preventive measures can be taken in certain situations. For example, someone at high risk of developing a type of cancer could be screened more frequently.
Genetic counselling is not usually covered by any health insurance.
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