Genetic testing (also called DNA-based tests) is among the newest and most sophisticated of techniques used to test for genetic disorders which involves direct examination of the DNA molecule itself. Other genetic tests include biochemical tests for such gene products as enzymes and other proteins and for microscopic examination of stained or fluorescent chromosomes. Genetic tests are used for several reasons, including prenatal diagnostic testing and newborn screening.
Genetic testing allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a child’s paternity (genetic father) or a person’s ancestry. Normally, every person carries two copies of every gene (with the exception of genes related to sex-linked traits, which are only inherited from the mother by males), one inherited from their mother, one inherited from their father. The human genome is believed to contain around 20,000 – 25,000 genes. In addition to studying chromosomes to the level of individual genes, genetic testing in a broader sense includes biochemical tests for the possible presence of genetic diseases, or mutant forms of genes associated with increased risk of developing genetic disorders.
Do all women need Genetic testing before pregnancy
Geneticists in Maryland and New Jersey looked for cellular changes that are fatal and ones that are treatable and they decided to include close to 600 mutations found in more than 160 diseases in a single genetic screening test.
GenPath Women’s Health, part of N.J.-based Bio-Reference Laboratories, announced recently about the most comprehensive screen currently offered in a field of rare diseases, the test distinguishes itself by scanning for 95 disorders, including 3-hydroxy-3-methylglutaryl-CoA lyase deficiency and cerebrotendinous xanthomatosis. They call it the Pan-Ethnic Carrier Screen as a way to signal to all women, regardless of ethnicity, that genetic-testing is important for them.
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But do all women really need to undergo genetic testing? Many of the pregnant women undergo some kind of prenatal screening or testing of their fetus. But how many women undergo prenatal screening or testing of their fetus and how many women screening based on their ethnic background, although many are also screened for cystic fibrosis. Traditionally, certain ethnic groups — especially Ashkenazic Jews of Eastern European descent — have been advised to undergo carrier screening for various fatal conditions including Tay-Sachs and Canavan diseases.
Marc Grodman, CEO of Bio-Reference says, “There are a good number of ethnicities that have been ignored by genetic testing. Parents would want to know ahead of time about any increased risks in order to be prepared. The biggest fear about rare disorders is that a baby is born and no one can make a diagnosis. Just because it’s a hard decision and a hard process doesn’t mean we should shy away from asking the questions.”