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With clinical validity, we are interested in knowing how well does the genetic variant related to the presence, absence, or risk of a specific disease. Lastly, in clinical utility, we refer to whether the test can provide information about diagnosis, treatment, management, or prevention of a disease that will be helpful to a consumer. It can be difficult to determine the quality of a genetic test that is sold directly to the public. For this reason, it best to have the test performed at a facility that is subject to federal regulatory standards. Even when the test is done at a reliable facility, and it is knows that the tests are accurate, there is still the question of them being representative. Sometimes resulting positive for a mutation that causes a disease does not necessarily mean that’s the person will actually phenotypically express it. Being able to get results is as important as being able to interpret those
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Among many inherited disease there is a disorder called hemophilia. Hemophilia is a bleeding disorder that is a result of different problems in the blood coagulation pathway. Being unable for the blood to clot results in prolonged bleeding even after minor procedures such as pulling a tooth. In the most sever cases bleeding can happen spontaneously. This disorder can lead to complications from bleeding in areas such as the brain, muscles, and other internal organs, and may also lead to death. This disease can be caused by mutations on two different genes, therefore producing two types of hemophilia. The mutations occur on the long arm (q) of the x chromosome, making this an sex-linked disease. The changes in F8 gene are responsible for hemophilia A, while mutations in the F9 gene cause hemophilia B. Both these genes are involved in the coagulation factors. Hemophilia A and hemophilia B are inherited in an X-linked recessive pattern. Normally only males inherit this disease. Carrier females have about half the usual amount of coagulation factor VIII or coagulation factor IX, which is generally enough for normal blood clotting. Being able to test for this genetic disease at early stages of pregnancy can help a couple decide if they want to bring to life a child that with this condition, or perhaps make an
Among many inherited disease there is a disorder called hemophilia. Hemophilia is a bleeding disorder that is a result of different problems in the blood coagulation pathway. Being unable for the blood to clot results in prolonged bleeding even after minor procedures such as pulling a tooth. In the most sever cases bleeding can happen spontaneously. This disorder can lead to complications from bleeding in areas such as the brain, muscles, and other internal organs, and may also lead to death. This disease can be caused by mutations on two different genes, therefore producing two types of hemophilia. The mutations occur on the long arm (q) of the x chromosome, making this an sex-linked disease. The changes in F8 gene are responsible for hemophilia A, while mutations in the F9 gene cause hemophilia B. Both these genes are involved in the coagulation factors. Hemophilia A and hemophilia B are inherited in an X-linked recessive pattern. Normally only males inherit this disease. Carrier females have about half the usual amount of coagulation factor VIII or coagulation factor IX, which is generally enough for normal blood clotting. Being able to test for this genetic disease at early stages of pregnancy can help a couple decide if they want to bring to life a child that with this condition, or perhaps make an