Come January 2012, a new genetic screening test which promises to detect the presence of 600 mutations found in over 160 diseases will be available in the United States. Researchers looked through 1,000 various genetic mutations, or cellular changes that can either be treatable or fatal, in order to create the test.
Developed by GenPath Women’s Health together with GeneDX, two leading laboratories in the United States, the Pan-Ethnic Carrier Screen will be offered to patients in order to determine any risks for possible conditions that they may pass on to their children. The developers gave it such a name because they believe all women, no matter what their ethnicity is, should get the test. If a pregnant woman is found positive for a mutation, then the partner or spouse should then also be tested.
After this simple blood test, patients are to receive a detailed clinical report summarizing the results of the test. Presented as a circular graph, two graphs – one for the man and the woman – are overlaid. If none of the recorded mutations overlap, then the couple does not share a mutation, and are therefore not at high risk for passing on the mutation to their offspring. Should any mutations overlap, however, then the couple will receive counseling on their options for the risks detected.
But is it necessary for women - pregnant women, in particular - to get the said genetic screening test? Would majority of women be interested in finding out if they’re carriers for different genetic diseases, considering that there are already prenatal screening tests and newborn screening tests available in the market?
Most women already get tested for cystic fibrosis, a hereditary chronic disease affecting the respiratory and digestive system, caused by a defective gene. Complications include closing of the lungs and obstruction of the pancreas from producing natural enzymes important in the breaking down and absorption of food.