Empowering Families with Knowledge and Support for Genetic Health
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Genetic consultation is essentially a meeting between an individual who is at risk for, or has, a rare disease and a genetic counselor, or genetic expert. If the patient involved is a child, then genetic consultation will also involve their parents. Genetic consultation can take place before any genetic testing or screening has taken place, […]
Their main role is to accompany rare disease individuals, and if relevant their families too, through the stages of a diagnosis of a rare disease. However, within this role, there are many specific ways in which a genetic counselor helps rare disease patients. Genetic counselors are instrumental in collecting the vital medical history, and family […]
Genetic counseling is an integral, essential part of the genetic diagnosis process. It is a highly specialized service, and genetic counselors are responsible for guiding, supporting, and educating rare disease patients and their families throughout the entire diagnostic process. Genetic counseling what to expect: Due to different types and purposes of genetic testing, there are […]
Genetic counseling offers many different layers of support for patients and their families embarking on a rare disease diagnosis journey. Led by genetic counselors, who are both medical professionals and therapists, genetic counseling walks and guides patients through their diagnosis, from initial genetic analysis to genetic testing, diagnosis, and beyond. Genetic counselors help patients understand […]
You can expect that genetic counseling, in general, will be an important support tool as you navigate a rare disease diagnosis. Finding the right genetic counselor, for consistent and quality support and care, is crucial to the entire diagnostic process, and it helps to ensure an accurate diagnosis as well. Navigating a diagnostic journey is […]
Genetic counseling is not a diagnostic tool. It is part of the genetic diagnosis process, and its role is to support and guide individuals and families. Genetic counseling empowers rare disease patients along every stage of their rare disease journey- from initial diagnosis to long-term management- and what it can tell you about these stages, […]
Genetic analysis essentially has two main purposes. Its first purpose is to determine if an individual should proceed with genetic testing, which will more conclusively determine the presence of a rare disease. The second purpose is to help researchers and geneticists understand more about gene mutations and the causes of rare diseases. This is especially […]
Genetic analysis essentially has two main purposes. Its first purpose is to determine if an individual should proceed with targeted genetic testing that will more conclusively determine the presence of a rare disease. The second purpose is to help researchers and geneticists understand more about gene mutations and the causes of rare diseases. This is […]
Rare disease misdiagnosis is common. Many rare disease patients find themselves seeing multiple doctors, specialists, and medical teams before receiving a correct and accurate diagnosis. At the same time, many rare disease patients are stuck or stranded in a diagnostic odyssey that can take years to resolve and complete. A second opinion for a rare […]