Is Genetic Screening the Answer?
By: Wendy Wilburn
Biology 2020 – Biology II
April 25, 2015
The Great Genetic Screening Debate
Within the past thirty years, researchers have found strong evidence that our DNA or genetic material may be a predictive factor for disease probability. This has lead to the development of genetic testing after the isolation of certain candidate genes. Although predictive genetic screening is only available for a selective number of diseases, its ramifications have become hot topics for debated issues in a broad range of arenas from governmental agencies to religious applications. (1). This debate began ...view middle of the document...
In these instances, the outcome is not only dependent on how the mutation transforms the function of the protein, but just how important is the protein is to the body’s function?
Since scientists have determined how genes can trigger harmful consequences in the body, we can now examine how scientists can look at a specific gene that can cause diseases.
Scientists researching diseased genes also study DNA markers in individuals with infected relatives. These scientists then look for the specific genetic markers which have thus far been identified. Scientists have even narrowed it down to a specific area of DNA by mapping the genes. If a diseased gene is linked or mapped to this area, then the gene-like sequences become the candidates for a gene specific disease (3).
The opposite can also be the result of a mutation: the expression of a sequence of genes in the tissue that may suggest a disease gene. If scientists can determine the genetic map position of a known disease gene, then the unassigned genes in the region may be candidate genes. Once these candidate genes are identified, scientists can look for mutations in these genes and they can begin to identify the specific regions which bind to the diseased single strands in the DNA (3). This probe can be tagged with a radioactive atom that will bind to those complementary bases. These areas can then be lit up, allowing scientists to carefully examine the specific diseased piece of DNA for all mutations (3).
Predictive gene tests can then show an individual whether or not they are carrying a diseased-related mutation (4). A genetically predisposed mutation can be carried in the reproductive cells of the individual; therefore, the mutated gene can be carried in cells throughout the body. The predictive gene tests can detect the mutated genes in the white blood cells. If the mutation is present, the carrier must be told a variety of factors that will determine if breast cancer will even develop. Most women who carry the familial adenomatous polyposis gene will ultimately develop a form of breast cancer. On the other hand, women carrying BRCA1 mutation will have an 80% of remaining breast cancer free throughout the entirety of their lives. Even those women who do not inherent these mutations are still at a risk of contracting breast cancer to some degree.
Predictive gene testing is available for breast cancer right now and there are updated procedural scans being added every day. Inherited forms of breast cancer account for 10-15% of all breast cancer (5). Although this number seems low, an estimated 1 in 100 women carry inherited mutations of the breast cancer gene and eventually will develop some form of breast cancer (5). I don’t know about you, but I don’t want to be the “one”.
Although other genetic mutations have been identified before BRCA1, it wasn’t until this discovery that many paid attention to this breakthrough. In January 1996, OncorMed, Inc offered this test to...