Diagnostiki Athinon’s genetic predisposition to endocrine glands and genitourinary system diseases of women and men includes genetic testing for the predisposition of 14 different diseases.
The use of the polygenic risk score (PRS) in the context of endocrine gland diseases and diseases of the genitourinary system in women and men involves combining information from many genetic polymorphisms to evaluate an individual's overall genetic predisposition to the manifestation of each disease separately.
The endocrine glands and the genitourinary system diseases of women and men analyzed with this test are:
Addison's disease is a rare disorder in which the adrenal glands are unable to produce adequate hormones, particularly cortisol and aldosterone. This hormonal deficiency can lead to symptoms such as fatigue, weight loss, low blood pressure, and changes in skin pigmentation. Treatment includes lifelong hormone replacement therapy to manage hormonal imbalances and relieve symptoms. The assessment of the Polygenic Risk Score for Addison's disease is based on examining 8 gene polymorphisms.
Graves' disease is an autoimmune disorder that results in overproduction of thyroid hormones, leading to hyperthyroidism. Common symptoms include weight loss, rapid heartbeat, and irritability. Treatment options include medications to regulate thyroid function, treatment with radioactive iodine, or surgery to remove the thyroid gland. The assessment of the Polygenic Risk Score for Graves' disease is based on examining 22 gene polymorphisms.
Hypothyroidism is a condition in which the thyroid gland does not produce enough thyroid hormones, slowing down various body functions. Symptoms include fatigue, weight gain, and cold intolerance. Treatment includes thyroid hormone replacement therapy to restore normal hormone levels and relieve symptoms. The assessment of the Polygenic Risk Score for hypothyroidism is based on the examination of 44 gene polymorphisms.
Non-medullary thyroid carcinoma refers to several types of thyroid cancer that do not originate in the medullary cells of the thyroid. Papillary and follicular thyroid cancers are common subtypes. Treatment may include surgery, treatment with radioactive iodine, and, in some cases, thyroid hormone replacement. The assessment of the Polygenic Risk Score for non-medullary thyroid carcinoma is based on the examination of 11 gene polymorphisms.
Non-toxic multinodular goiter is a thyroid disorder characterized by multiple nodules in the thyroid gland, leading to thyroid enlargement. Although not cancerous, these nodules can cause difficulty swallowing or breathing. Treatment options depend on the size and symptoms of the goiter and may include medication or surgery. The assessment of the Polygenic Risk Score for non-toxic multinodular goiter is based on examining 22 gene polymorphisms.
Type 1 diabetes mellitus is an autoimmune condition in which the immune system attacks and destroys insulin-producing beta cells in the pancreas. This results in a lack of insulin, the hormone necessary to regulate blood sugar. People with type 1 diabetes require lifelong insulin treatment and careful monitoring of blood glucose levels to manage the condition. The assessment of the Polygenic Risk Score for type 1 diabetes mellitus is based on the examination of 110 gene polymorphisms.
Type 2 diabetes mellitus is a metabolic disorder characterized by insulin resistance and decreased insulin secretion. It often develops in adulthood, and lifestyle factors such as diet and physical activity play a critical role in managing it. Treatment may include oral medications, injectable treatments, and lifestyle modifications to control blood sugar levels. The assessment of the Polygenic Risk Score for type 2 diabetes mellitus is based on examining 514 gene polymorphisms.
Polycystic ovary syndrome (PCOS) is a hormonal disorder that affects some women, leading to irregular periods, ovarian cysts, and hormonal imbalances. It can also cause fertility problems and metabolic complications. Treatment may include lifestyle changes, medications, and hormone therapy to manage symptoms and improve fertility. The assessment of the Polygenic Risk Score for polycystic ovary syndrome is based on examining 14 gene polymorphisms.
Endometriosis is a chronic condition in which tissue similar to the lining of the uterus grows outside the uterus. This can cause pain, inflammation, and adhesion formation. Management includes painkillers, hormone therapy, and, in some cases, surgery to remove abnormal tissue. The assessment of the Polygenic Risk Score for endometriosis is based on the examination of 13 gene polymorphisms.
Intrahepatic gestational cholestasis (obstetric cholestasis) is a liver disorder that occurs during pregnancy, leading to reduced bile flow and accumulation of bile acids in the blood. Symptoms include itching, particularly in the hands and feet. While intrahepatic gestational cholestasis usually resolves after childbirth, medications and supportive measures can be used to manage symptoms. The assessment of the Polygenic Risk Score for intrahepatic gestational cholestasis (obstetric cholestasis) is based on examining 9 gene polymorphisms.
Endometrial cancer is a type of cancer that originates in the lining of the uterus (endometrium). Symptoms may include abnormal vaginal bleeding. Treatment often involves surgery, such as a hysterectomy, along with radiation therapy, chemotherapy, or hormone therapy, depending on the stage and characteristics of the cancer. The assessment of the Polygenic Risk Score for endometrial cancer is based on the test 15 gene polymorphisms.
Prostate cancer is a malignancy that develops in the prostate, a gland in the male reproductive system. It is one of the most common cancers in men. Treatment options vary and may include monitoring, surgery, radiation therapy, hormone therapy, chemotherapy, and immunotherapy, depending on the stage and characteristics of the cancer. The assessment of the Polygenic Risk Score for prostate cancer is based on examining 214 gene polymorphisms.
Urolithiasis is the formation of stones (uroliths) in the urinary tract. These stones can cause pain and can block the flow of urine. Treatment options include pain management, hydration, and, in some cases, procedures or surgery to remove or break down the stones. The assessment of the Polygenic Risk Score for urolithiasis is based on the examination of 30 gene polymorphisms.
Chronic kidney disease (CKD) is when the kidneys gradually lose function over time. Common causes include diabetes and hypertension. CKD can develop into kidney failure, requiring dialysis or kidney transplantation. Treatment includes management of underlying medical conditions, lifestyle modifications, and medications to slow the progression of kidney damage. The assessment of the Polygenic Risk Score for chronic kidney disease is based on examining 22 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.
