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.
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 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 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.
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.
Genetic counseling is not a diagnostic tool. It is part of the genetic diagnosis process, and it’s role is to support and guide individuals and families. Whether family history of a rare disease, or symptoms related to a genetic cause, may mean you have a higher risk of developing a rare disease. If this is the case a genetic counselor will advise if you should proceed with genetic testing, and which tests they would recommend. A genetic counselor may be able to tell you which symptoms might be relevant to test for. Whether you should proceed with carrier screening, based on a family history of rare disease, or of family members who are known carriers for gene mutations. A genetic counselor will then be able to educate you about what a positive result might mean for your future health, and that of your future children. It will also be able to tell you the options for conceiving a child, based on your specific genetic health. What kind of genetic testing options you should consider based on your family history, and symptoms, if any. These might be recommended to confirm, or to rule out a diagnosis. There are several types of genetic testing, and the more targeted the testing, the more accurate the results are likely to be. Genetic testing is a difficult process, both emotionally and sometimes physically, genetic counseling can tell you if there is a need to explore further testing, or not. If further genetic testing and screening is required to rule out, or confirm a rare disease diagnosis. If further testing is recommended, a genetic counselor will also be able to recommend which specific genetic testing to undergo. They will also be able to explain the results, and implications of the results of the testing. They will be able to tell you what the results mean in layman’s terms, and beyond the medical explanations. In-depth information about the causes and symptoms of rare diseases and genetic syndromes, and what long term management of these symptoms might entail. Genetic counseling aims to raise awareness about rare diseases, and to empower rare disease individuals with as much information as possible when it comes to understanding, and making decisions about your own care. How care and treatment of a rare disease might be coordinated and managed between the different healthcare professionals and teams responsible for your care. It will also be able to tell you what this care might entail, and how you can access it. It will tell you the best options for you, based on your symptoms and need for care. What support groups are relevant to your syndrome, or potential risk factors. Support groups are important for rare disease advocacy and awareness, while also providing much needed emotional and mental support. Learning to accept, and live with a rare disease diagnosis, is a difficult process, and support groups are a crucial part of making this path less rocky and more manageable for everyone involved. What life with a rare disease might look like, and how early intervention might be able to improve quality of life, including potential treatment and care options. This information will vary from patient to patient, even amongst those with the same syndrome. If you have received a misdiagnosis in the past, how advanced genetic analysis tools might be able to help you reach a more accurate diagnosis, and how genetic counseling can help bring about a more accurate diagnosis.
Genetic analysis essentially has two main purposes. Its first purpose is to determine if an individual should proceed with 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 especially important in terms of improving the rate of accurate diagnosis for rare disease patients.
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 especially important in terms of improving the rate of an accurate diagnosis for rare disease patients.
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.