In some cases, an error in our chromosomes or genes results in dysfunction or malformation, such as: Some mutations are called “de novo” or sporadic. The list is not complete, and not all the points will be relevant to your specific situation. Some of our genes are non-functional because they contain a change called a mutation that prevents their normal function. Benefits of genetic testing Reveal the cause of the disease. A large percentage of genetic diseases are referred to as “recessive transmission” diseases: in order to be affected, an individual must receive a mutant gene from each of his parents, who are [...], Myth! Because genetic conditions often run in families, information about your genetic makeup might be useful to other family members. Stay up to date on news, events, products and more. The genetic counselling process is meant to help patients and their families understand and adapt to the medical and psychological implications of the genetic aspects of diseases. The impact of these mutations varies depending on the mode of transmission. It is important to think through the possible consequences for you and your family if you were to receive either good news or bad news. Since genetic testing is mandated by many US states for newborns, newborn screening is the most common type of genetic testing. Genetic counsellors are medical genetics health professionals with a master’s degree in genetic counselling. Genetic counselling can be done at different times: We offer services that can assist your doctor screen for more than 650 allergens in a single blood test. If the news is good, such as a mild prognosis, it can mean a tremendous sense of relief. Each chromosome contains several genes that provide the necessary instructions for our development and for the functions of our body. If you are currently pregnant, you can undergo prenatal genetic testing to detect whether your baby has certain genetic disorders, such as Down’s syndrome, and better understand the genetic health of your child. When someone has an accurate diagnosis, the appropriate treatment can be given, and you have a better chance of finding support. Genetic errors in mitochondrial DNA are also associated with diseases such as Leigh’s syndrome (metabolic disease affecting the nervous system) and Leber’s optical neuropathy (vision loss). Your email address will not be published. The tests are performed in a clinical laboratory that meets established standards and has received the required certifications. Facebook groups and other social media forums can connect people undergoing shared experiences – whether it be a diagnosis of Huntington’s disease or parents of children undergoing genetic testing – and provide you with emotional and informational support. For some people this relief from uncertainty is very important, even if the news is bad. However, further testing is required to confirm or eliminate the diagnosis. If you have any questions or would like more information, please do not hesitate to contact Biron Groupe Santé customer service at 1 833 590-2712. If you are interested in this type of test and you select an offer with an analysis of genes associated with diseases, we recommend that you first discuss this with a health professional or a genetic expert, such as a genetic counsellor. Genetic testing has potential benefits whether the results are positive or negative for a gene mutation. Therefore it is important that you have discussed and understood all the information that you have been given to help you make your own decision. Couples can then choose to proceed with a natural pregnancy equipped with the information necessary to make medical decisions or can choose assisted reproductive technology instead to improve their chances of having a healthy baby. Benefits. The science of genetics exploded in the last decade as researchers completed the Human Genome Project, which mapped the 25,000 genes in the human genome. Supernumerary chromosome: Trisomy 21 (Down syndrome) or Klinefelter syndrome (47,XXY), Missing chromosome: Turner’s syndrome (45,X), Missing part of a chromosome: 22q11.2 deletion syndrome (DiGeorge’s syndrome), Substitution (change of one “letter” to another), Deletion (a portion of the gene is absent), Duplication (a portion of the gene is repeated), Prenatal, pediatric or adult genetics, which consists of diagnosing rare diseases of suspected genetic origin and counselling families. Not all genetic tests are equal and different technologies offer sometimes different results. Whole genome sequencing: performs a near-complete “reading” of the entire genome (all genes, coding and non-coding parts) of an individual. Cannot identify other genetic mutations found elsewhere in the same gene. For some conditions, even though a changed gene or chromosome is found, it is not possible to tell how severely a person will be affected. Genetic mutations are often passed down through families. © 2020 Avrio Genetics. Alongside physical health, DNA sequencing may benefit your mental health as well by providing relief from the anxieties of the unknown and giving individuals the ability to address medical problems in advance with preventive action. If family members are aware that a genetic condition runs in the family, it might prevent them from being misdiagnosed. Save my name, email, and website in this browser for the next time I comment. Genetic testing can also foster unique social connections between you and others who share the same or similar genetic disorders as you. If you know you and your partner are at high risk of having a child with a genetic condition, it may be possible to test the unborn child during pregnancy to see if it is affected. Many medical professionals recommend that couples trying to conceive undergo genetic testing to determine if they are carriers of genetic diseases that they could pass on to their children, especially if they belong to certain high-risk ethnic groups or have a family history of genetic disorder. Some genetic tests give you the option of adding your DNA to a database used to further medical research. It is intended for patients of all ages (prenatal to adult) and includes several other medical specialties, including pediatrics, oncology, cardiology and neurology. Required fields are marked *. Once you have the results of a genetic test there is no going back. Hemochromatosis (excess iron in the body), Myopathies (genetic diseases affecting the muscles), such as Duchenne muscular dystrophy or Steinert’s disease, Breast cancers linked to BRCA1 or BRCA2 mutation, Colon cancer related to a mutation in the MLH1, MSH2 or MSH6 genes, Family history of diseases that can be hereditary (e.g., cancer, heart problems, Alzheimer’s disease, Parkinson’s disease), Risk of carrying or having a child with a hereditary disease (link to info in Small Guides – Pregnancy), Gene testing for predisposition to hereditary breast cancer: BRCA1 and BRCA2, Test to confirm diagnosis of Duchenne muscular dystrophy. Testing for Clinics, Employers, & Athletes. by avrio | Jul 26, 2020 | DNA | 0 comments. The results must therefore be confirmed by another laboratory. Even though a genetic test may confirm a diagnosis, there may be no intervention or treatment available. Genetic testing can help you know, for example, if you or your child are likely to develop certain genetic conditions (transmitted by your genes). In total, there are currently more than 6,000 diseases associated with a genetic anomaly, but it is estimated that the human genome contains between 20,000 and 25,000 genes. Biochemical analyses can identify a child who may be susceptible to genetic disease, but a diagnostic test is needed to confirm or eliminate this risk. We all have 23 pairs of chromosomes (22 pairs called autosomes and a pair of sex chromosomes) that determine our sex (XX in women, and XY in men). It can be used for specific sections of DNA or the entire genome, as we discussed in our blog What is Genome Sequencing and How does it Work? It might be important to find out how the results of a genetic test would affect your insurance situation before going ahead with testing.
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