Diagnostiki Athinon’s genetic predisposition to sensory organs and skin diseases includes genetic testing for the predisposition of 13 different diseases.
Using the polygenic risk score (PRS) in the context of sensory organ and skin diseases involves combining information from multiple genetic polymorphisms to assess an individual's overall genetic predisposition to each disease separately.
The sensory organs and skin diseases analyzed with this test are:
Atopic dermatitis, also known as eczema, is a chronic inflammatory skin condition characterized by itching and inflammation of the skin. It often begins in childhood and can persist into adulthood. Management includes moisturizers, topical corticosteroids, and other medications to reduce inflammation and relieve symptoms. The assessment of the Polygenic Risk Score for atopic dermatitis is based on examining 23 gene polymorphisms.
Psoriasis is a chronic autoimmune skin condition characterized by rapidly accumulating skin cells, leading to red, scaly plaques. It can also affect the joints, leading to psoriatic arthritis. Treatment includes topical medications, phototherapy, systemic medications, and biological agents to manage symptoms and control inflammation. The assessment of the Polygenic Risk Score for psoriasis is based on the examination of 54 gene polymorphisms.
Vitiligo is a skin disorder characterized by loss of pigment, resulting in white spots on the skin. It occurs when the immune system attacks and destroys melanocytes, the cells responsible for producing the pigment. Treatment may include local medications, phototherapy, and cosmetic camouflage. The assessment of the Polygenic Risk Score for vitiligo is based on the examination of 43 gene polymorphisms.
Squamous cell carcinoma of the skin is a common type of cancer arising from squamous cells. It is often caused by prolonged exposure to ultraviolet (UV) radiation. Treatment includes surgical removal of the tumor, radiation therapy, and, in some cases, chemotherapy. The assessment of the Polygenic Risk Score for squamous cell carcinoma is based on examining 18 gene polymorphisms.
Basal cell carcinoma is the most common type of skin cancer, usually occurring in the basal cells of the outer layer of the skin. It often appears as a slow-growing, white or waxy lump and is usually caused by exposure to ultraviolet (UV) radiation. While basal cell carcinoma rarely spreads to other parts of the body, prompt treatment, such as surgical removal, is necessary to prevent local tissue damage. The assessment of the Polygenic Risk Score for basal cell carcinoma is based on the examination of 68 gene polymorphisms.
Malignant melanoma is a type of skin cancer that results from melanocytes, the cells that produce pigments in the skin. It can spread to other body parts if not detected and treated early. Prevention includes sun protection measures, and treatment may include surgery, immunotherapy, or targeted therapy, depending on the cancer stage. The assessment of the Polygenic Risk Score for malignant melanoma is based on the examination of 60 gene polymorphisms.
Age-related macular degeneration is a progressive eye condition that mainly affects the elderly, creating degeneration of the central part of the retina called the macula. This leads to loss of central vision, affecting activities such as reading and recognizing faces. Age-related macular degeneration can be classified as dry or wet, which involves abnormal blood vessel growth. Although there is no cure, some treatments, such as anti-VEGF, can help manage symptoms and slow the progression of the disease. The assessment of the Polygenic Risk Score for age-related macular degeneration is based on examining 9 gene polymorphisms.
Cataracts are a common age-related eye condition characterized by clouding of the lens, leading to blurred vision. Surgery to replace the cloudy lens with an artificial one is a standard and effective treatment for cataracts, restoring clear vision. The assessment of the Polygenic Risk Score for cataracts is based on the examination of 24 gene polymorphisms.
Keratoconus is an eye disorder in which the cornea gradually thins and swells in the shape of a cone, causing visual distortion. Treatment may include corrective lenses or, in more advanced cases, surgery or corneal transplantation. The assessment of the Polygenic Risk Score for keratoconus is based on the examination of 33 gene polymorphisms.
Type 2 macular telangiectasia is a rare eye disorder that affects the macula, the central part of the retina. It can lead to vision problems, including difficulty reading and recognizing faces. While there is no cure, management may include vision aids and lifestyle modifications. The assessment of the Polygenic Risk Score for type 2 macular telangiectasia is based on the examination of 10 gene polymorphisms.
Open-angle glaucoma is a progressive eye condition characterized by increased intraocular pressure, leading to optic nerve damage and possible vision loss. It often develops slowly and may not cause noticeable symptoms until late. Treatment involves lowering intraocular pressure through medications, laser therapy, or surgery. The assessment of the Polygenic Risk Score for open-angle glaucoma is based on the examination of 63 gene polymorphisms.
Sensorineural hearing loss is a type of hearing loss resulting from damage to the inner ear or auditory nerve. Various factors, including age, noise exposure, and certain pathological conditions, can cause it. Treatment options include hearing aids, cochlear implants, and assistive devices. The assessment of the Polygenic Risk Score for sensorineural hearing loss is based on examining 9 gene polymorphisms.
Nasal polyps are non-cancerous formations in the nasal passages or sinus lining. They can cause symptoms such as nasal congestion, runny nose, and impaired sense of smell. Treatment includes medications to reduce inflammation or, in some cases, surgical removal of polyps. The assessment of the Polygenic Risk Score for nasal polyps is based on examining 20 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.
