Genetic Counseling Service at Hospital Ochoa

Asesoramiento Genético

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Service Asesoramiento Genético

In some families the appearance of cases of diseases that could have a genetic component is observed. These cases usually generate some concern, especially at the time when we plan to have offspring.

The main reasons why it is recommended to go to a specialized consultation of genetic counseling are the following

  • If your doctor has observed symptoms that may indicate a genetic disease (cardiac, neurodegenerative, metabolic, etc).
  • If in the family there has been a case of hereditary disease: hereditary cancer, congenital malformations or chromosomal alterations.
  • If in the family more than 2 close relatives suffer or have suffered from the same disease.
  • If you suffer from infertility, you have had two or more miscarriages or the baby was born dead.
  • If there is any kind of kinship with your partner and you are considering having children.
  • If you have had a baby with some type of developmental difficulty or congenital malformations.
  • If you get pregnant or are thinking about doing it after 35 years.
  • If there are abnormal findings on ultrasounds or any other test performed during pregnancy that may suggest possible genetic or chromosomal disorders.
  • If you belong to an ethnic group with a high incidence of certain genetic diseases.

 

Inherited genetic diseases:

Congenital diseases of genetic base (cardiac, neurodegenerative, gynecological, etc).

Rare diseases are those that affect less than 5 people per 10,000. It is possible that this affects a few people, but as they are more than 7,000 different diseases, this makes it “not uncommon to have a rare disease” so there are more than three million affected in Spain. To this we must unite the normally serious character of the same, which affects mainly boys and girls, and of course also the family environment. We speak of processes such as bullous spondylosis, known as butterfly skin disease, elastic pseudoxanthoma, cystic fibrosis and others.

Special mention must be made to cancer that is always a genetic disease, but also in 10% of cases it has a hereditary character. Cancer is a genetic disease that can develop during life, but sometimes we can be born with some mutation that predisposes us to it. This mutation is transmitted to offspring through established patterns of inheritance, which is why it is very important to study this disease in order to prevent this disease or to diagnose it in the early stages.

The most common types of cancer that can show a familiar character are breast, hereditary ovarian and colon, although there are many others such as prostate, gastric, melanoma, multiple endocrine neoplasms, retinoblastoma, thyroid, pheochromocytoma, etc.

In addition to these there are other diseases of all kinds with a genetic component that can also be analyzed:

Cardiac diseases, both with predisposition to develop acute coronary syndrome, myocardial infarction, and valvular malformations (bicuspid atrial valve), sudden death (Brugada syndrome), etc.
Neurodegenerative diseases (Alzheimer’s, Parkinson’s)
Neurological diseases: Huntington’s disease, muscular dystrophies, ataxias, etc.
Alterations of cognitive development in children: autism spectrum disorder, attention deficit syndrome, etc.
Metabolic diseases: obesity, diabetes, gout, porphyrias …
Cystic fibrosis
Rare diseases: Marfan syndrome, Familial Mediterranean Fever, etc.

  • Genetic counseling or advice:
  • Advice to prevent and detect diseases of unknown genetic base.
  • Confirmation of the diagnosis of diseases whose cause is a genetic alteration.
  • Advice in the treatment of diseases of genetic cause, especially in Hematology and Oncology, detecting mutations in DNA that
  • can guide a personalized treatment.

 

But what is genetic counseling?

Genetic counseling is the process of helping people understand and adapt to the medical, psychological and family consequences of a certain genetic condition.

This process includes:

  • Interpret family and medical history to assess the risk of occurrence or recurrence of a certain disease that may be cardiac, oncological, neurodegenerative, etc.
  • Educate about inheritance, available genetic tests, prevention, resources and research.
  • Offer counseling with qualified psychologists to promote informed decisions and an adaptation to risk or condition.

Phases of genetic counseling:

  • Identify irrigation
    Genetic counseling pre-test.
    Informed consent.
    Realization of molecular analysis.
    Genetic counseling post-test.
    Tracing.

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