In the United States officially approved a new DNA test that allows parents to screen their newborns for various genetic diseases. Previously, the list of these diseases consisted of 34 items, the new test extends the screening until 193 diseases. Developed the test of scientific employees of the company Sema4, specializing in research in the field of genetics. The test is based on the collection of DNA material cotton swab from the inside of the cheeks, then proceed to sequencing.
“Up to this time very many families were caught off guard when it turned out that they knew nothing about genetic diseases to their children. The sooner it is possible to identify the disease, the more likely to help the child. Due to the rapid development of science and medicine, we can now test children to 193 genetic diseases, thus minimizing the threat to their lives. In some cases the child can be saved using the normal vitamins, but the main thing — time to understand what’s wrong with him,” — says the President of the company Sema4 Eric Schadt.
Guide Sema4 sure that timely medical intervention could save thousands of children’s lives, that is why we need the broadest possible coverage of all sorts of genetic diseases within a single DNA test. In addition, this test allows to track changes in 10 genes that typically arise as side effects from the use of 38 common medicines. This will help doctors prescribe the correct medications and their dosage in the case of certain diseases, while not putting them at risk.
Many scientists agree that such DNA tests that detect different mutations in the genes does not mean that the disease will begin to develop in the human body. However, the guide Sema4 merely gives parents the opportunity to learn about potentially dangerous situations which they may encounter. And the decision whether to treat the child or just monitor his condition remains for them. However, not all share the position Sema4.
“You are putting parents in a terrible position. They will not know: sick their baby or in the end everything will cost. And this can lead to a completely unnecessary treatment that may only aggravate the situation,” in an interview with MIT Technology Review has recognized geneticist Laura Hercher.
To date, the cost of the DNA test Sema4 is 649 dollars (this includes still consult with a specialist-a geneticist). Considering how expensive is health care in the USA is quite adequate price for such a useful screening covering a huge number of potentially dangerous genetic diseases. Ethical questions, of course, remain open. But, on the other hand, no one is forcing parents to use this test mandatory.
The new DNA test allows you to test newborns immediately on 193 genetic diseases
Sergey Grey