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Asthma, Genetic Testing

Asthma is a chronic respiratory condition characterized by airway inflammation, leading to symptoms such as wheezing, shortness of breath, and chest tightness. Triggers may include allergens, respiratory infections, and exercise. Treatment includes bronchodilators and anti-inflammatory drugs to control symptoms and prevent asthma attacks. The assessment of the Polygenic Risk Score for asthma is based on the examination of 123 gene polymorphisms.

Genetic testing for asthma is included along with 14 other diseases in the Genetic Screening for Cardiovascular and Respiratory Diseases, Polygenic Risk Score, and Genetic Screening for Immune Diseases, Polygenic Risk Score, along with 12 other diseases.

Causes and non-genetic risk factors

So far, no single direct cause of asthma has been identified, although many different risk factors related to the disease have been identified. Among them are:

  • Presence of other allergies. Studies have shown that asthma is more frequent in people suffering from other allergies, eczema, or rhinitis.
  • Urbanization: asthma is more frequent in people living in large cities, probably due to lifestyle factors.
  • Problems in lung development and maturation during childhood are associated with prematurity, exposure to tobacco smoke, underweight newborns, or viral respiratory infections.
  • Exposure to allergens and environmental irritants such as dust mites, air pollution, chemicals, fumes, or dust.
  • Overweight and obesity in children and adults.

Asthma is a chronic disease that causes the airways to swell and constrict, causing a series of characteristic symptoms that may vary from person to person. In most cases, asthma presents with attacks lasting minutes or days, separated by symptom-free periods. During the acute period, one may experience the following:

  • Cough with or without phlegm production.
  • Intercostal tightness (pulling of the skin between the ribs when breathing).
  • Shortness of breath that worsens with activity.
  • Wheezing when breathing.
  • Chest pain or stiffness.
  • Difficulty sleeping.
  • Abnormal breathing pattern.

Occasionally, more serious symptoms may occur that require immediate medical attention, such as skin blueness, decreased alertness, extreme shortness of breath, or rapid pulse.


To date, there are no effective measures to prevent the onset of asthma, but it can be treated to prevent the primary triggers and avoid new attacks.

  • Avoid breathing allergenic substances such as pollen, dust mites, fungi, or animal hair (especially cat and dog hair). Avoid or reduce exposure to dust mites by avoiding carpets, rugs, and stuffed animals in your home.
  • Avoid use of medications such as aspirin or other non-steroidal anti-inflammatory drugs.
  • Avoid exposure to irritants such as tobacco smoke, air pollution, cleaning products, hairspray, etc.
  • Avoid humid and warm environments such as indoor swimming pools or intense physical exercise.

In addition to pharmacological treatments, which may be necessary to control asthma symptoms (mainly bronchial dilators and inhaled corticosteroids), immunotherapy, i.e., allergy vaccines, is sometimes available. This treatment is the only one shown to reduce the natural course of allergic disease. However, its potential benefit depends on the type of allergy and is not recommended for all patients with asthma.

Additional information
Results Time4 - 5 Weeks
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