Diagnostiki Athinon's genetic predisposition for diseases of the central and peripheral nervous systems includes genetic testing for the predisposition of 16 different diseases.
Using the polygenic risk index (PRS) in the context of central and peripheral nervous system diseases involves combining information from multiple single-nucleotide polymorphisms (SNPs) to assess an individual's overall genetic predisposition to each disease separately.
The diseases of the central and peripheral nervous system analyzed with this test are:
Alzheimer's disease is a neurodegenerative disorder characterized by progressive cognitive impairment, memory loss, and behavioral changes. It is the most common cause of dementia in older adults, and currently, there is no cure. Treatment aims to manage symptoms and improve the quality of life of affected individuals. The assessment of the Polygenic Risk Score for Alzheimer's disease is based on the examination of 38 gene polymorphisms.
Parkinson's disease is a progressive neurodegenerative disorder that affects movement control. Symptoms include tremors, stiffness, and difficulty in balance and coordination. Treatment includes medications to manage symptoms, physical therapy, and, in some cases, surgeries such as deep brain stimulation. The assessment of the Polygenic Risk Score for Parkinson's disease is based on examining 24 gene polymorphisms.
Multiple sclerosis is a chronic autoimmune condition that affects the central nervous system, leading to a variety of neurological symptoms such as fatigue, muscle weakness, and coordination problems. Treatment options aim to manage symptoms and modify the course of the disease, often with medications and physical therapy. The assessment of the Polygenic Risk Score for multiple sclerosis is based on the examination of 190 gene polymorphisms.
Depression is a common psychiatric disorder characterized by persistent feelings of sadness, loss of interest and pleasure, and a range of physical and cognitive symptoms. It can significantly affect daily life and functioning. Treatment options include psychotherapy, medications, and lifestyle changes. Individualized approaches are often necessary to effectively manage depression. The assessment of the Polygenic Index Score for depression is based on the examination of 96 gene polymorphisms.
Bipolar disorder, formerly known as manic-depressive disease, is a psychiatric condition characterized by extreme mood swings between mania (increased mood, energy) and depression (low mood, loss of interest). These episodes can affect daily functioning and interpersonal relationships. Treatment usually includes mood stabilizers, psychotherapy, and sometimes antipsychotic medications. The assessment of the Polygenic Risk Score for bipolar disorder is based on the examination of 63 gene polymorphisms.
Schizophrenia is a severe psychiatric disorder characterized by distorted thinking, hallucinations, delusions, and impaired emotional reactions. It often affects cognitive function and social functioning. Treatment usually involves a combination of antipsychotic medications, psychotherapy, and support services to manage symptoms and improve quality of life. The assessment of the Polygenic Risk Score for schizophrenia is based on the examination of 90 gene polymorphisms.
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a progressive neurodegenerative disorder that affects motor neurons in the brain and spinal cord. This condition leads to muscle weakness, paralysis, and eventually respiratory failure. Despite extensive research, there is no cure for ALS, and treatment focuses on managing symptoms and improving a person's quality of life. The Polygenic Risk Score for amyotrophic lateral sclerosis is based on examining 9 gene polymorphisms.
Migraines are a type of headache characterized by severe pain, often accompanied by nausea, sensitivity to light and sound, and visual disturbances. Treatment includes medications to relieve symptoms and prevent migraines and lifestyle changes. The assessment of the Polygenic Risk Score for migraine is based on the examination of 38 gene polymorphisms.
Headaches are a frequent and heterogeneous category of pathological conditions characterized by pain or discomfort in the head or neck area. The causes can vary, including tension, migraines, or underlying medical conditions. Treatment depends on the type and cause of the headache and may include lifestyle adjustments, medications, or other interventions. The assessment of the Polygenic Risk Score for headaches is based on the examination of 28 gene polymorphisms.
Narcolepsy is a chronic neurological disorder characterized by excessive daytime sleepiness, sudden loss of muscle tone (cataplexy), and disturbed sleep patterns, including intense hallucinations and sleep paralysis. It is often caused by a deficiency of a neurotransmitter called hypocretin (orexin). Treatment includes medications and lifestyle adjustments to manage symptoms and improve quality of life. The assessment of the Polygenic Risk Score for narcolepsy is based on the examination of 20 gene polymorphisms.
Restless legs syndrome (RLS) is a neurological disorder characterized by an uncontrollable desire to move the legs, often accompanied by unpleasant sensations. Symptoms usually worsen at rest or during the night. Treatment options include lifestyle changes, medications, and, in some cases, iron supplements. The assessment of the Polygenic Risk Score for restless legs syndrome is based on examining 24 gene polymorphisms.
Carpal tunnel syndrome is a condition that occurs when the median nerve, which runs through the wrist to the hand, is compressed. This compression leads to symptoms such as numbness, tingling, and weakness in the hand and fingers. Treatment may include wrist splints, medications, and, in severe cases, surgery to relieve pressure on the nerve. The assessment of the Polygenic Risk Score for carpal tunnel syndrome is based on the examination of 11 gene polymorphisms.
An intracranial aneurysm is a swollen, weakened area in the wall of a blood vessel inside the brain. If an aneurysm ruptures, it can lead to a life-threatening hemorrhagic stroke. Treatment includes surgical repair to prevent rupture. The assessment of the Polygenic Risk Score for intracranial aneurysms is based on examining 16 gene polymorphisms.
Glioblastoma is an aggressive and malignant type of brain tumor that arises from glial cells. It is the most common form of primary brain cancer in adults. Glioblastomas are known for their rapid growth and ability to penetrate surrounding brain tissue. Treatment often includes surgery, radiation therapy, and chemotherapy, but the prognosis remains poor. The assessment of the Polygenic Risk Score for glioblastoma is based on the examination of 10 gene polymorphisms.
Glioma is a broad term that includes tumors that originate from glial cells in the brain or spinal cord. These tumors can be benign or malignant and cause symptoms based on location and size. Treatment options vary and may include surgery, radiation therapy, and chemotherapy, depending on the type and degree of glioma. The assessment of the Polygenic Risk Score for glioma is based on the examination of 9 gene polymorphisms.
Neuroblastoma is a type of cancer that occurs most often in young children and affects nerve tissue. Symptoms may include the presence of a mass, abdominal pain, and changes in bowel habits. Treatment depends on the stage of the cancer and includes surgery, chemotherapy, radiation therapy, and stem cell transplantation. The assessment of the Polygenic Risk Score for neuroblastoma is based on the examination of 6 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.
