Empowering Families with Knowledge and Choices through Genetic Counseling and Testing
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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 screening involves testing to identify changes in an individual’s genetic makeup. This might be identifying a gene or chromosomal change that might cause a rare disease, or a gene change that might make them the carrier.
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.
There are several prenatal genetic tests that can help parents understand more about their child’s genetic health before they are born. Parents also have the option of carrier testing, either before or during a pregnancy, which will reveal whether the parents are themselves carriers of a specific gene or DNA mutation that might cause their child to be born with a specific genetic syndrome or not (depending on the particular gene mutation, and the mode of inheritance of the syndrome involved). Carrier genetic testing can identify syndromes such as Fragile X, Tay Sachs, and Cystic Fibrosis.
For many families, a rare disease diagnosis for a child will answer many questions, but at the same time raise so many more. A diagnosis may, in fact, signal the beginning of a journey into understanding more about their child’s condition, how it may affect their mental and physical development, how their child can be supported through their syndrome, and what impact this might have on the rest of the family.
Paternity testing is the process by which the DNA of a child, and their alleged biological father, are tested in order to determine if there is a match between the two. Each individual has their own unique DNA. However 50% of this DNA is derived from the birth Mother, and 50% from the biological Father. Paternity testing checks the DNA of both the child and the alleged biological father: if there is no match on two or more DNA spikes, then the tested male is not the biological father. If there is a match between all of the DNA probes, then the tested male is the biological father.