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Chronic Obstructive Pulmonary Disease, Genetic Testing

Chronic Obstructive Pulmonary Disease (COPD) is a progressive respiratory condition characterized by airflow restriction, often caused by exposure to irritants such as cigarette smoke. Symptoms include chronic cough, shortness of breath, and wheezing. Treatment includes smoking cessation, bronchodilators, and inhaled corticosteroids to relieve symptoms and improve lung function. The assessment of the Polygenic Risk Score for chronic obstructive pulmonary disease is based on the examination of 80 gene polymorphisms.

Genetic testing for chronic obstructive pulmonary disease is included along with 14 other diseases in the Genetic Screening for Cardiovascular and Respiratory Diseases, Polygenic Risk Score.

Causes and non-genetic risk factors

Emphysema and chronic bronchitis are the two most common conditions that contribute to chronic obstructive pulmonary disease. Emphysema is the destruction of the alveoli, the respiratory structure that allows the exchange of oxygen and carbon dioxide, caused by harmful exposure to tobacco smoke and other irritating gases and particles. Chronic bronchitis results from inflammation of the lining of the bronchi.

The leading cause of COPD in developed countries is smoking. However, other irritants can cause chronic obstructive pulmonary disease, including cigarette smoke itself, environmental pollution, and workplace exposure to dust, smoke, or toxic gases. In developing countries, it is mainly associated with exposure to fumes from burning fuels for cooking and heating in poorly ventilated homes.


COPD frequently appears around the age of 40-50 years but has a slow progression and progressive worsening. Symptoms usually do not appear until significant lung damage occurs and often worsen over time, especially if exposure to tobacco continues. Over time, it can limit a person's ability to perform daily activities and, in severe cases, prevent them from performing even the most basic activities. Common symptoms include:

  • Shortness of breath, especially during physical activity
  • Wheezing (whistling) in the chest
  • A feeling of tightness in the chest
  • Chronic cough that may produce mucus
  • Frequent respiratory infections
  • Lack of energy
  • Unintentional weight loss

The best method of prevention is to reduce risk factors. These are the same ones that can trigger or worsen the disease when it is already established or exacerbate its symptoms.

  • Quitting smoking is the most essential measure that can be taken. It is also important to avoid second-hand smoke.
  • Exercise regularly as much as possible.
  • Maintain a balanced diet and an appropriate weight. Avoid large meals, especially dinner and alcoholic beverages, and limit carbonated beverages.
  • Avoid frigid environments.
  • Reduce air pollution in the home by eliminating chimney smoke and other irritants.
  • Vaccinate against influenza and pneumococcus to reduce the risk or prevent these common respiratory infections.
Additional information
Results Time4 - 5 Weeks
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