{"id":2690,"date":"2021-07-28T14:04:58","date_gmt":"2021-07-28T19:04:58","guid":{"rendered":"https:\/\/genolife.ca\/?p=2690"},"modified":"2023-02-16T13:15:41","modified_gmt":"2023-02-16T18:15:41","slug":"precision-medicine-genetic-diseases-2-3","status":"publish","type":"post","link":"https:\/\/genolife.ca\/en\/precision-medicine-genetic-diseases-2-3\/","title":{"rendered":"Precision Medicine: Genetic Diseases (2\/3)"},"content":{"rendered":"<p><strong><a href=\"https:\/\/genolife.ca\/en\/precision-medicine-its-utility-and-limits\/\">Precision Medicine<\/a> is one of the tools available for diagnosing genetic diseases and hereditary predisposition. Obtaining a diagnosis or knowing your genetic predisposition to develop certain diseases can allow you to consider specific treatments or make better decisions about screening and other risk factors, including lifestyle habits. Here are some examples of the use of precision medicine in connection with genetic disease screening:<\/strong><\/p>\n<p><strong>Screening genetic testing targeting genetic diseases<\/strong><\/p>\n<p><span style=\"font-weight: 400;\">These tests are performed when the disease is known, whether it is a personal diagnosis or a family history. We estimate that humans have around 20,000 genes, and clinical genetic testing is currently available for just under half. Moreover, the same disease can be associated with different genes. For example, <\/span><a href=\"https:\/\/www.cancer.ca\/en\/cancer-information\/cancer-type\/breast\/risks\/?region=on\"><span style=\"font-weight: 400;\">hereditary breast cancer<\/span><\/a><span style=\"font-weight: 400;\"> can be associated with the genes BRCA1, BRCA2, PALB2, CHEK2, etc. Finally, for the same disease, there are several types of analyzes that can be offered.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">For example:<\/span><\/p>\n<ul>\n<li><span style=\"font-weight: 400;\">Targeted test: analyzes the presence or absence of a variant previously identified in the family;<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Genotyping: A specific number of pathogenic (disease-causing) variants are analyzed in one or more genes. If you compare a gene to a book, genotyping is a bit like reading just a few words from a few selected pages. The information is therefore limited since all the rest of the content is not analyzed;<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Sequencing: the complete reading of one or more genes in order to identify genetic variants.<\/span><\/li>\n<\/ul>\n<p><i><span style=\"font-weight: 400;\">Limits:<\/span><\/i><\/p>\n<ul>\n<li><span style=\"font-weight: 400;\">Depending on the test performed, <\/span><b>the result obtained does not always provide a simple \u201cyes or no\u201d response<\/b><span style=\"font-weight: 400;\">. A result can be positive, negative, inconclusive or uncertain (variant of uncertain significance or SUVs);<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Depending on your diagnosis or if you have a family history, <\/span><b>a negative result does not entirely rule out the possibility of an inherited disease<\/b><span style=\"font-weight: 400;\"> since:<\/span>\n<ul>\n<li><span style=\"font-weight: 400;\">Some mutations are still unknown;<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Depending on the test performed, certain genes or mutations may not have been analyzed;<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Some genes are still unknown.<\/span><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p><strong><a href=\"https:\/\/genolife.ca\/en\/genetic-testing-screening-prevention\/\">Prevention Test<\/a><\/strong><\/p>\n<p><span style=\"font-weight: 400;\">Even in the absence of a personal or family history, it is now possible to detect genetic predispositions for certain diseases, such as certain cancers and certain cardiovascular diseases (e.g. hypercholesterolemia) which have hereditary forms. Recently, numerous studies have shown that this type of screening identifies mutations in a significant number of individuals and that the majority of them have no known family history of the disease in question. The advantage of this screening is that it makes it possible to set up options for targeted screening and \/ or risk reduction and thus to carry out prevention.<\/span><\/p>\n<p><strong><i>Limitations:<\/i><\/strong><\/p>\n<ul>\n<li><b>Genetics are not the complete answer: other factors impact your health.<\/b>\n<ul>\n<li><span style=\"font-weight: 400;\">Example: You get a DNA test result identifying that you carry a pathogenic variant in a gene associated with high cholesterol. You have an increased risk of having high cholesterol. On the other hand, this risk is modified by your level of activity, your diet, your biological sex, your ethnicity, your other health problems and your environment. All of these factors affect your overall risk for high cholesterol.<\/span><\/li>\n<\/ul>\n<\/li>\n<li><span style=\"font-weight: 400;\">Test results for disease-predisposing genes usually tell you about high or low health risk &#8211; but the risk is not certain.<\/span>\n<ul>\n<li><span style=\"font-weight: 400;\">Example: Your genetic result shows that you do not carry pathogenic variants in genes associated with hereditary breast cancer. While this is reassuring, it is not a guarantee that you will not develop cancer in your lifetime. Other factors, including age, lifestyle habits (eg smoking, alcohol, physical activity, diet) contribute to the risk of developing cancer during your lifetime.<\/span><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p><a href=\"https:\/\/genolife.ca\/en\/services\/\"><strong>Genetic Counselling<\/strong><\/a><\/p>\n<p><span style=\"font-weight: 400;\">A genetic counselor can help you navigate the gray areas and other uncertainties that you may have.<\/span><\/p>\n<ul>\n<li><span style=\"font-weight: 400;\">A genetic counselling meeting looks at your family and personal history to determine if a test might help you, and if so, the counselor will help you consider the right test and understand your results;<\/span><\/li>\n<li><span style=\"font-weight: 400;\">A genetic counselor can help you understand the limits of scientific knowledge that impact your DNA test results and offer you ways to incorporate this information into your health care;<\/span><\/li>\n<li><span style=\"font-weight: 400;\">If you get an uncertain test result (SUV), advances in science may clarify its meaning in the future. A genetic counselor can stay on top of the latest data and can be your source for updates that could impact your health.<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Exploring your genetics can be exciting, but also difficult if you&#8217;re not comfortable with strangers. Having access to a supportive health care professional can make a positive difference, and a genetic counseling meeting could help.<\/span><\/p>\n<p><strong><em>Nathalie Bolduc, MSc, CGAC, CGC<\/em><\/strong><br \/>\n<strong><i>Certified genetic counselor<\/i><\/strong><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Precision Medicine is one of the tools available for diagnosing genetic diseases and hereditary predisposition. Obtaining a diagnosis or knowing your genetic predisposition to develop certain diseases can allow you to consider specific treatments or make better decisions about screening and other risk factors, including lifestyle habits. Here are some examples of the use of precision medicine in connection with genetic disease screening: Screening genetic testing targeting genetic diseases These tests are performed when the [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":1731,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[320,337,5],"tags":[48,43,311,317],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.3 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Precision Medicine: Genetic Diseases<\/title>\n<meta name=\"description\" content=\"Precision Medicine is one of the tools available for diagnosing genetic diseases and hereditary predisposition.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" 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