When Los Angeles native, Pia Bueno, saw the ReadyGen pediatric genetic screening being offered through California Cryobank, CBR’s sister company at Generate Life Sciences, she was immediately excited.
“To me, the more you know, the better,” she says. “When my son was born, there weren’t any expanded genetic testing options available to me. So, I thought, how awesome to do this for my daughter, Aubrey.”
Following the instructions, Pia ordered the ReadyGen screening, took cheek swabs from six-year-old Aubrey, herself, and her husband, and sent the kit back. “The process was very easy,” she said.
A few weeks later, she received a phone call from a genetic counselor as part of their standard protocol for positive or out-of-normal-range results.
The genetic counselor told Pia that Aubrey was G6PD-deficient. Glucose-6-phosphate dehydrogenase deficiency is an inherited condition where the body doesn’t produce enough G6PD enzyme. This lack leads to hemolytic anemia, which causes red blood cells to break down faster than the body can replace them.
Most state newborn screening panels do not test for G6PD-deficiency, which makes it an easy condition to miss. Fortunately, as Pia was relieved to hear, G6PD-deficiency is not life-threatening and, in most cases, doesn’t cause problems.
But, the counselor explained, problems may occur with exposure to certain foods and medications. (In fact, hemolytic anemia is also called “favism” for its ability to spur anemic reactions to fava beans.)
What medications will Aubrey have to avoid? Quite a few, it turns out, including common ones like aspirin, certain nonsteroidal anti-inflammatory medications, and sulfonamides, a commonly prescribed group of antibiotics.
Was Pia G6PD-Deficient, Too?
Because Pia was provided a cheek swab as part of the ReadyGen process, her DNA was tested as well. This confirmed that she too was G6PD-deficient. “No wonder,” she said, “I’ve suffered through significant bouts of anemia over the course of my life, sometimes after taking medications. This explains a lot!”
Now that they know they have this deficiency, Pia and Aubrey can actively avoid problematic medications and other triggers in the future.
“This is terrific information,” Pia says, “because Aubrey doesn’t have to suffer like I did. G6PD-deficiency often isn’t found until a child gets symptoms, but because of ReadyGen, we don’t have to go through that. Now we know.”
Removing the Guesswork
With the recent advances in the biotech industry, parents can now test their children for specific conditions at home with just a cheek swab. “It’s not a theoretical test,” Pia says. “We’re not talking about the probability a child could inherit a condition. We’re talking about what our children’s genes are saying right now.”
What’s next for Pia and her family? Now that she knows the truth about herself and Aubrey, she’s going to get her son, Zachary, tested for G6PD-deficiency too.
More About ReadyGen
While this condition isn’t life-threatening, other serious diseases, like Krabbe disease and sickle cell anemia, can be. Fortunately, ReadyGen empowers parents to further protect their children by delivering personalized health information on possible life-threatening conditions, many of which aren’t detected by standard prenatal tests or state newborn screenings.*
- Early detection of 200+ conditions through advanced DNA sequencing technology**
- Actionable information: all conditions can be managed with diet, medication, or other therapies (including 20+ addressable with newborn stem cells)
- Requires only a cheek swab—noninvasive and easy!
Included in every ReadyGen kit is a test that identifies a child’s response or sensitivity to 40+ medications that may be prescribed during childhood. This report is provided to the child’s doctor to help recommend personalized medications in the future.
The best part? Families who order ReadyGen will get both tests for the price of one. If you have a child, or are expecting one, you can learn more about ReadyGen here.
Expecting families now have another reason to consider preserving their baby’s cord blood, and those who have already banked have another reason to get excited about the future possibilities. As always, we’ll keep you posted on any stem cell news or developments.
*Worldwide, approximately 1 in 27 children screen positive for a genetic condition on the ReadyGen panel. If your child screens positive, a genetic counselor will contact you to discuss the results of the test and help you navigate next steps. The chance of a positive result varies depending on ethnicity.
**All of the genes have a well-established relationship with disease and meet eligibility criteria as set by ClinGen guidelines (https://clinicalgenome.org/start/ PMID: 28552198).
Evidence supporting associations between variants and drug response is obtained from a combination of sources, including: FDA drug labeling, guidelines written by a consortium of international experts (such as CPIC), and peer-reviewed research literature.