Have you ever heard of Alpha 1 antitrypsin deficiency? How about GJB2-related hearing loss? You have probably heard of cystic fibrosis. These 3 diseases are all recessive genetic diseases. In fact there are thousands of these types of diseases but most are quite rare.
People are born with a recessive genetic disease because they inherited a recessive genetic mutation from both parents. Each parent would have been a silent carrier, also called having a recessive trait. This recessive trait does not cause disease and many people have recessive traits that they do not even know they have. DNA testing can identify carriers of recessive traits.
If a couple both carry the same recessive trait, their baby has a 25% chance of being born with a recessive genetic disease. Alpha 1 antitrypsin deficiency is a genetic illness that causes liver and lung disease in children and is the single most common disease requiring a liver transplant, affecting 1 in 2,500 people. GJB2-related hearing loss causes 20% of all cases of childhood deafness, affecting about 1 in 2,500 people. Cystic Fibrosis causes severe lifelong lung and intestinal problems and affects 1 in 3,000 people.
Until recently, it was extremely expensive to test people for recessive traits. But there is now a very affordable test called the Universal Genetic Test, offered by Counsyl Labs. This test can detect over 100 different recessive DNA traits, including the above 3 and many others such as Tay-Sach’s Disease, Spinal Muscular Atrophy (SMA) and more.
We now offer this test to both expecting parents. Testing early in pregnancy can help to identify if the baby is at risk for a genetic disease that we would never have known about otherwise.