DNA testing kits are as easy to get and use as a pregnancy test, but without a guide to the results, some parents and parents-to-be end up with information that may be less than helpful.
“There has been a big push for direct-to-consumer genetic testing,” said Winn Surka, a Greenville-based genetic counselor with Greenwood Genetic Center. “It’s made it more accessible to people. I think that’s good, but without the proper education before the testing, you might not have an idea of what you are looking for. In general, I think genetic testing is great. The most important thing is to be aware of how it is done and what results you are going to get.”
In that past, genetic testing might have been offered to expectant parents or those planning a pregnancy only in certain circumstances, such as when the mother is over age 35, for instance.
Surka said the recommendation now is all pregnant women be offered all options for testing, including genetic testing.
Genetic testing can be indicated for concerns about the health history of either parent, a history or miscarriage or infant death or other health issues. Ideally, that occurs before conception, Surka said. Some seek testing because of an identified risk.
“They have an identified reason why we would consider testing,” Surka said. “There’s another group of people who are interested in what we have available and just throwing out the net to look into things.”
For the latter, narrowing the search can be difficult.
“It’s hard to know where to stop,” Surka said. “Is the goal to know if the baby has something life threatening? The reality is that as parents, there is always the unexpected that can come up. I like to focus people on what you are at risk for.”
If a test is negative, Surka stresses that the result is limited.
“The very specific things we tested for are fine,” she said. “There are so many levels to genetic testing. If we tested everybody’s entire genome, we would find something.”
Even having the knowledge can raise new questions, Surka said. James Watson, co-discoverer of the double helix shape of DNA, was confounded by his own test results.
“When the genome testing became available, he had his whole genome sequenced and it had a variant for breast cancer, and he had no idea what to do with that,” Surka said. “It’s not clear cut.”
Surka said she thinks everyone should be able to have carrier testing to determine if they or their partner are carriers of certain conditions, as well as the ability to test for extra chromosomes.
But no matter what information is sought, it is important to have a qualified person available to explain testing options and their results.
“There is no clear-cut answer for each person,” Surka said. “You need an interpreter sometimes when you go through this process. Our entire profession is here just to give information and to give resources for their decision making.”