Empowering Families with Knowledge and Support for Genetic Health
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A pediatric genetic expert may have one of two roles. They may be a pediatric genetic counselor, or a pediatric geneticist. Both types of experts specialize in genetics and rare disorders in relation to children, from infancy to the end of the teenage years.
Telegenetic counseling, quite simply, is genetic counseling available online. It requires a connected video device, this can be a smartphone or computer, and that is all. It is genetic counseling, and all of the support and services it provides, delivered virtually.
Rare diseases are only rare when you count them one by one. Collectively, rare diseases affect up to 30 million people in the United States alone, and a recent scientific paper published in the European Journal of Human Genetics
Very few types of genetic testing are actually done online. Many types of genetic tests can be ordered online for at-home testing, and quite a few online options are available to help analyze and review the results of your genetic testing, once you have them.
Diagnostic genetic testing can help identify an individual’s potential risk for developing a rare disease. In some cases, diagnostic genetic testing can definitively determine a medical diagnosis for symptoms that have been as yet unexplained for the patient. In other cases, it can contribute information that can lead to a correct diagnosis, pending further examination.
DNA testing is a type of genetic testing. It is a medically based test to analyze DNA components. You can voluntarily decide to have your DNA tested if there is something you wish to know. There are currently upwards of 1000 types of genetic tests in use, with more being developed all the time. Some are quite popular for personal interests such as genealogical tracing and ancestry studies. Other DNA tests are used to determine medical and health results.
What is genetic testing exactly? Genetic testing is a way to examine your DNA. DNA is the biological database that contains and communicates instructions for your body’s growth and function. During genetic testing, mutations in your genes may be revealed. These changes can cause disease, malformation, or a variety of disorders.
Online genetic counseling is taking off, and in the process removing barriers to accessibility that often prevent many rare disease patients and their families access crucial genetic counseling services. Genetic counseling is many things. First and foremost it is a critical, and essential, part of the diagnostic process. Anyone, be it an individual, couple, or family, facing a rare disease diagnosis or with a family history of a rare disease, should have access to genetic counseling services.
Within genetic counseling there are specific counseling services that allow those facing a rare disease diagnosis to receive targeted support, and care as they navigate the diagnostic process. One of these services includes prenatal genetic counseling, a specialized type of genetic counseling for parents-to-be.