{"id":2685,"date":"2021-07-28T13:32:37","date_gmt":"2021-07-28T18:32:37","guid":{"rendered":"https:\/\/genolife.ca\/?p=2685"},"modified":"2023-02-16T13:26:03","modified_gmt":"2023-02-16T18:26:03","slug":"genetic-disease-screening-its-usefulness","status":"publish","type":"post","link":"https:\/\/genolife.ca\/en\/genetic-disease-screening-its-usefulness\/","title":{"rendered":"Genetic Disease Screening: Its Usefulness"},"content":{"rendered":"

Did you know that you are probably a carrier of at least one genetic disease without knowing it? Being a carrier means that you are also at risk of passing it on to your children. Fortunately, you can get tested thanks to a genetic disease screening. What does it mean to be a carrier and why get tested?<\/strong><\/p>\n

Most genetic diseases are inherited through <\/span>\u201c<\/span><\/i>autosomal recessive inheritance<\/span><\/i><\/a>.\u201d<\/span><\/i> This means that a person <\/span>has the disease<\/i><\/b> when they have genetic changes (variants or mutations) <\/span>in both copies of a gene<\/i><\/b>. While a carrier<\/i><\/b> (without being affected) only has one copy of a gene<\/i><\/b>. <\/span>A carrier usually has no symptoms of the disease. <\/span>Two parents with the same disease have a 25% chance of passing these genetic changes on to their children.<\/i><\/b> So to conceive a child with a genetic disease.<\/span><\/p>\n

What Is Genetic Disease Screening?<\/strong><\/p>\n

The role of the genetic disease screening is to look for errors that could affect how one of your genes works. The tests are varied and can be very specific by testing a single gene or very broad by testing hundreds of different genes. They are done on your DNA which is obtained from your blood or saliva. You can therefore decide to do one individually or to do it as a couple to find out if you are carriers of the same genetic diseases. Since there are several types of tests, it is important to choose the right test for your situation.<\/span><\/p>\n

Why Do Carrier Screening?<\/strong><\/p>\n

Partners carrying the same genetic disease<\/a> risks conceiving a child affected by it. Many options are available to future parents in this situation and this is why many couples appreciate knowing their risks before conceiving a child. Some will want to be able to prepare for the possibility of welcoming a sick child or having the opportunity to perform a diagnostic test during pregnancy for the specific disease. It should also be noted that certain assisted reproduction technologies make it possible to test embryos negative for genetic disease before they are transferred. Our genetic counselors can then walk you through the process by helping you decide if you want to have a carrier screening, choose it well and prepare for the possible results.<\/span><\/p>\n

Some people are more likely to want to take this type of test. You may consider a carrier screening if:<\/strong><\/p>\n