MYRTLE BEACH, SC (WMBF) - DNA testing can be the link to the past that unlocks the future, but Meteorologist Marla Branson learned in the final part of her WMBF News special report, when it comes to getting those answers, sometimes it's best to leave it to the experts.
Marla reviewed the tests of her at-home "23 and Me" DNA test with Dr. John Schnorr of Coastal Fertility Specialists.
"I don't see...Did they detect anything abnormal?" Dr. Schnorr asks.
"Not a thing," Marla answers. "But you'll notice missing from that list is muscular spinal atrophy."
"Yeah, why didn't they do that? They didn't do SMA?" Dr. Schnorr says.
"No, because it's too hard to test for," Marla says. Spinal Muscular Atrophy may be too hard for the consumer product to test for, but it is a potentially life-changing affliction.
"When we decide what types of reports we're giving back to people, part of the decision making process is how good is our test at detecting those types of changes," explains Erynn Gordon, Director of Clinical Development with 23 and Me.
Those types of changes could change a life. Marla went looking for answers about her past after realizing how much she didn't know when she and her husband started trying to have a baby.
Jim Branson regrets how he handled Marla's adoption process by not finding out more about her birth mother.
"I would have found out who it was," Jim says. "I should have realized that."
Marla's closed adoption made her medical history a mystery.
"In hindsight I would have done it a little differently," Jim says.
It was a decision Marla's parents made that was the right decision at the time. But now she wants to know more about her past, especially her medical history. A Facebook ad for 23 and Me, caught her eye, but the results she got weren't quite what she was looking for.
"They didn't have anything in the carrier status report," Marla explains.
There was nothing in the report about muscular spinal atrophy, a genetic abnormality that Marla knows a carrier for, because she was tested by her doctor. It happens when a large section of a specific gene is missing.
"And the type of testing that 23 and Me does is not really conducive to finding these large scale deletions," Gordon says.
Marla found the test is also not conducive to giving me the info she thought would help her understand her past. Because of FDA regulations, the test can't reveal to U.S. customers the results of the BRCA gene report that indicates an increased risk of breast cancer.
"The conversation and process we're going through with the FDA - we're currently limited to offering just carrier testing," Gordon says.
That means you won't find any information from 23 and Me about your future health.
An online test wasn't the place to get the medical information Marla needed to understand how her genes could affect her son's.
"And when it comes to these types of details, skipping spinal muscular atrophy for example, which is one of the leading causes of neonatal death from genetic abnormalities, is a gigantic miss," Dr. Schnorr explains.
Marla was discouraged that she didn't get the information she wanted, so she googled her way to a third-party website that lets you upload your raw DNA data from 23 and Me to get a more comprehensive look at your genetic make-up. It showed she was at an increased risk for scary things like Alzheimer's, stroke and diabetes.
"Is a half of a one percent risk worth doing ultrasounds to your heart, putting you on statins, putting you on all these medications? Maybe not," says Dr. Schnorr. "So that's the value of the physician's consultation, that we're not interpreting these results in isolation."
Something that worries Dr. Schnorr: medicine changes so quickly that it's easy to find outdated information on the internet, and you could do more harm than good by trying to self-medicate or diagnose.
Dr. Schnorr says, "just having it be on the end cap of a drugstore with the brightest sign, patients don't know any better. They're going to waste $200."
"There are commercial companies who use FDA-approved testing that physicians know about who will charge insurance, and if insurance doesn't pay, they will charge you about $100 dollars for that test," Dr. Schnorr says.
"It's not that 23 and Me is a waste of money or a bad test," Marla says. "It was very interesting to see the detailed breakdown of my ancestry and be able to reach out to a hand full of people that are distant DNA relatives."
"Having those insights can be very fun and interesting both from a recreation standpoint," Gordon says. "'Wow, did you know we're part Norwegian,' to 'Wow, did you know we're part Jewish,' and 'I should have asked my doctor for carrier testing that is typically targeted to the Jewish population.'"
Knowing your genetic makeup is important, but where you get that information is even more important. A doctor or genetic counselor will order the right tests for you to avoid over-testing and wasting money. And once those tests come in, they will help interpret the results and tell you what your next steps should be. The next step for many of Dr. Schnorr's patients is to make sure they don't pass down a genetic abnormality to their children.
"We're not randomly screening everything with the embryo," explains Dr. Tom O'Leary, with the Coastal Fertility Specialists Genetics Lab. "We're screening for a specific known inherited disorder from the parents."
This testing helps doctors select the healthiest, most viable embryo to transfer using invitro-fertilization. This cuts down on miscarriages and genetic disorders.
"My most surprising insight from 23 and Me - I'm a tiny bit Mongolian, as well as a handful of other races and nationalities. And somewhere out there I have a second cousin who also took the 23 and Me test that has yet to answer my message.
The most important thing Marla learned through all of this is how maybe it's best she doesn't know everything her genetic code says about her.
"It was very easy to get caught up in studies and Google research and forget what I do know for sure: that, in this moment, I have a healthy baby boy, and as far as I know, I'm perfectly healthy too."
View the first two parts of this series below: