Testing It Up

A Silicon Valley start-up is claiming that it can help eradicate more than 100 genetic disorders by alerting parents-to-be who have the carrier genes before they conceive. Counsyl, is a company that is selling a test that they claim is  able to tell couples whether they are at risk of having children with a range of inherited diseases, such as  cystic fibrosis, Tay-Sachs, sickle cell anemia, spinal muscular atrophy and Pompe disease. Once these parents are told about the traits they carry they can move forward using in vitro fertilization combined with genetic testing of the embryos to avoid bearing children who would have these incurable and commonly fatal childhood diseases.

While there are already tests available to look for certain genetic disorders many others aren’t able to be detected by current testing and leave parents in the dark until their child has already become ill. These tests are also very cost prohibitive ranging from hundreds to thousands of dollars. The Counsyl test costs $349 for an individual or $698 for a couple and analyzes DNA from saliva samples. The test, if it proves effective, could make help many families to overcome long standing fertility and genetic issues that made having children a painful experience. As yet the ability of the tests remain unknown however because no papers have been printed about its results or approach. Despite this Counsyl claims that it has already administered thousands of the tests which are already offered by more than 100 fertility clinics around the country.

Counsyl executives say 35 to 40 percent of people tested are carriers for at least one disease in the test. In about 0.6 percent to 0.8 percent of cases, they say, both members of the couple are carriers for the same disease.

Tags: chilhood death, counsyl, cystic fibrosis, fertilty, genetic disease, genetic trait, health, Pompe disease, pregnancy, sickle cell anemia, spinal muscular atrophy, Tay-Sachs

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