Last Updated Feb 24, 2010 5:22 PM EST
Even with the creepy Gattaca undertones, Counsyl's technology could potentially save lives and health care dollars as a kind of preventative medicine. But the accuracy of the new technology is still in question, and it's unclear if the masses really want to know these answers to such questions -- even if insurance is willing to pay. Accuracy and large-scale adoption is the formula Counsyl needs to make its business model work.
Expectant parents typically turn to genetic tests to rule out major problems such as Downs Syndrome, Tay Sachs, or Cystic Fibrosis. However, thousands of other single gene mutations aren't part of standard testing, because the tests are pricey -- $400 to $1000 -- and not covered by insurance. Many parents never know they carry harmless gene mutations that might become deadly if both parents carry the same trait and pass it along to their baby.
Counsyl's genetic technology screens for more diseases, for less money, using a simple saliva test that's already available at 80 fertility clinics around the country. Even better: The test is covered by Blue Shield and Aetna, and wannabe parents can take the test before or during pregnancy. If they take it before, and they learn of a gene mutation, it could steer them toward Pre-implantation Genetic Diagnosis, or even a sperm or egg donor. If taken during pregnancy, the results could lead to early childhood diagnosis or a wrenching ethical decision about whether or not to terminate the pregnancy.
Balaji K. Srinivasan, Counsyl's president, wants to make the single mutation tests produced by companieslike Genzyme, Labcorp, and Quest obsolete. "New genetic technology is making it possible to take individual rare diseases that comprise a significant number of cases and offer one test for all of them for $400," he says.
These genetic discoveries can save lives, but they also alter our perspective on what is considered "normal." As we learn more about genetics, questions arise about where to draw the line between what is dangerous to pass along -- like Spinal Muscular Atrophy -- versus a "suboptimal" gene-driven trait like hair loss or depression. There's a strong economic incentive for fertility clinics to offer such tests, since the answers could push parents to spend more money on advanced reproductive technologies. But genetic ethicists worry that these tests will also fuel a desire to design "Super Babies?"
Counsyl's business hinges on whether more insurance companies pick it up, and if parents actually want to know these answers. Given the rising age of parenthood and the fact that there's an increased risk for genetic anomalies in older parents, it seems a safe bet many will.