Diagnostiki Athinon's genetic predisposition to gastrointestinal system diseases includes genetic testing for the predisposition of 15 different diseases.
Using the polygenic risk score (PRS) in gastrointestinal diseases involves combining information from multiple genetic polymorphisms to assess an individual's genetic predisposition to each disease separately.
The diseases of the gastrointestinal system analyzed with this test are:
Barrett's esophagus is a condition in which the lining of the esophagus changes, similar to the lining of the intestine. This transformation is often associated with chronic gastroesophageal reflux disease (GERD). Barrett's esophagus is a risk factor for esophageal adenocarcinoma. Monitoring and managing acid reflux through lifestyle changes and medications are essential to reduce the risk of progression to cancer. The assessment of the Polygenic Risk Index for Barrett's esophagus is based on examining 16 gene polymorphisms.
Gastroesophageal reflux disease (GERD) is a chronic condition in which stomach acid flows back into the esophagus, causing irritation and inflammation. Common symptoms include heartburn and reflux. Lifestyle modifications, medications, and, in some cases, surgery are used to manage acid reflux and prevent complications such as esophagitis or Barrett's esophagus. The assessment of the Polygenic Index Score for gastroesophageal reflux disease is based on the examination of 85 gene polymorphisms.
Diaphragmatic hernia refers to the prolapse of the abdominal organs into the chest cavity through an opening in the diaphragm. This can lead to respiratory and digestive problems. Surgery is often required to repair the hernia and restore normal anatomy. The assessment of the Polygenic Risk Score for diaphragmatic hernia is based on examining 10 gene polymorphisms.
Abdominal hernia is a pathological condition characterized by the prolapse of an organ or tissue through a weakened area in the abdominal wall, often presented as visible swelling. It can result from weightlifting, obesity, or chronic cough, and surgery is often required to repair the hernia and strengthen the weakened abdominal wall. The assessment of the Polygenic Risk Score for abdominal hernia is based on the examination of 11 gene polymorphisms.
An inguinal hernia is characterized by the prolapse of abdominal contents, such as a portion of the intestine, through a weakened area in the inguinal canal, leading to swelling in the groin. Surgery is often necessary to repair the hernia and strengthen the abdominal wall. The assessment of the Polygenic Risk Score for inguinal hernia is based on examining 18 gene polymorphisms.
Non-alcoholic fatty liver disease (NAFLD) is a condition in which excess fat accumulates in the liver of people who consume little or no alcohol. NAFLD can develop into non-alcoholic steatohepatitis (NASH), which is associated with liver inflammation and damage. Lifestyle changes, including diet and exercise, are critical components of management. The assessment of the Polygenic Risk Score for non-alcoholic fatty liver disease is based on the examination of 48 gene polymorphisms.
Primary biliary cirrhosis (PBC) is a chronic autoimmune liver disease characterized by the destruction of small bile ducts in the liver. This condition can lead to cirrhosis and liver failure. Treatment includes medications to slow disease progression and manage symptoms, with liver transplantation considered in severe cases. The assessment of the Polygenic Risk Score for primary biliary cirrhosis is based on the examination of 38 gene polymorphisms.
Gallstones are small, hard stones that form in the gallbladder, a small organ that stores bile. These stones can develop when an imbalance in the substances that make up bile leads to solidification. Gallstones can cause symptoms such as abdominal pain, nausea, and vomiting. Treatment options range from lifestyle changes and medications to surgical removal of the gallbladder. The assessment of the Polygenic Risk Score for choledocholithiasis and predisposition to gallstone formation is based on examining 21 gene polymorphisms.
Diverticulosis is a condition characterized by the presence of small diverticula that can form on the walls of the large intestine. When these diverticula become inflamed, the condition is referred to as diverticulitis. Symptoms may include abdominal pain, fever, and changes in bowel habits. Treatment includes dietary changes, antibiotics, and, in severe cases, surgery. The assessment of the Polygenic Risk Score for diverticulosis is based on examining 38 gene polymorphisms.
Crohn's disease is a chronic inflammatory bowel disease affecting any part of the digestive system. It is characterized by abdominal pain, diarrhea, and weight loss. Treatment includes medications to control inflammation and manage symptoms and, in some cases, surgery to remove damaged parts of the digestive system. The assessment of the Polygenic Risk Score for Crohn's disease is based on the examination of 104 gene polymorphisms.
Ulcerative colitis is a chronic inflammatory bowel disease that mainly affects the large intestine and rectum, leading to symptoms such as abdominal pain, diarrhea, and rectal bleeding. Treatment aims to control inflammation and manage symptoms, often with medications and, in some cases, surgery. The Polygenic Risk Score for ulcerative colitis is based on the examination of 5 gene polymorphisms.
Colorectal cancer refers to cancer that develops in the colon or rectum. Regular checkups, such as colonoscopies, are vital for early detection. Treatment options for colorectal cancer include surgery, chemotherapy, and radiation therapy, depending on the stage and location of the cancer. The assessment of the Polygenic Risk Score for colorectal cancer is based on the examination of 74 gene polymorphisms.
Pancreatic cancer is a malignant tumor that develops in the pancreas, an organ located behind the stomach. It is often diagnosed at an advanced stage, leading to a poor prognosis. Treatment options may include surgery, chemotherapy, radiation therapy, and targeted therapies, depending on the stage and characteristics of the cancer. The assessment of the Polygenic Risk Score for pancreatic cancer is based on examining 13 gene polymorphisms.
Oral cavity and oropharyngeal cancer are malignancies that develop in the mouth, throat, tongue, or tonsils. Risk factors include tobacco and alcohol use, as well as infection with the human papillomavirus (HPV). Treatment may include surgery, radiation therapy, and chemotherapy, depending on the location and stage of the cancer. The assessment of the Polygenic Risk Score for oral cavity and oropharynx cancer is based on examining 6 gene polymorphisms.
Hemorrhoidal disease, or hemorrhoids, refers to the swelling and inflammation of blood vessels in the rectum and anus, resulting in discomfort, bleeding, and itching. Lifestyle changes, dietary modifications, and medications can relieve symptoms, while more severe cases may require surgery. The assessment of the Polygenic Risk Score for hemorrhoidal disease is based on the examination of 103 gene polymorphisms.
Polygenic Risk Score
The Polygenic Risk Score (PRS) is a numerical value that summarizes a person's genetic predisposition to a particular trait, condition, or disease based on information from multiple genetic variants throughout the genome. Polygenic risk scores are used in genetics to evaluate the cumulative effect of multiple genetic factors on a particular outcome.
The polygenic risk score shall be calculated as follows:
- Genetic variations: A set of genetic variants, often single-nucleotide polymorphisms (SNPs), associated with a particular trait or disease are identified. These SNPs are distributed throughout the individual's genome.
- Weighted contributions: Each genetic variant is assigned a weight (weighted contribution) based on its observed association with the trait or disease in large-scale genetic studies. Weighted contributions are determined through statistical analyses that consider the strength of the association for each variant.
- Summing: The weights of genetic variants are then combined for an individual to create the polygenic risk score. This score reflects the individual's genetic risk for the trait or disease.
- Interpretation: The polygenic risk score is often expressed as a numerical value. Higher values indicate a greater genetic predisposition to the trait or disease, while lower markers indicate a lower genetic risk.
Polygenic risk scores have been applied to various health-related conditions, including complex diseases such as diabetes, heart disease, and psychiatric disorders. They are increasingly used to assess a person's genetic predisposition to situations with a multifactorial genetic basis.
In the context of many diseases, such as those mentioned before, polygenic risk markers are used to understand better the genetic component of the risk of developing the disease. These markers can help identify high-risk individuals without a strong family history and have applications in personalized medicine, risk prediction, and early intervention.
It is important to note that although polygenic risk scores provide valuable information about genetic risk, they are only one piece of the puzzle. Environmental factors, lifestyle choices, and other non-genetic factors also play an essential role in developing complex diseases.
