If you could find out whether your newborn baby is at risk of developing treatable early-onset genetic diseases, would you want to know? A recent poll, commissioned by Sema4 and conducted online by Harris Poll, found that nine out of ten Americans would want this knowledge. Similarly, 87% of Americans said that they would likely request a supplemental non-invasive DNA test if their state’s newborn screening panel test did not cover many of the treatable conditions that could affect a child in their first years of life. I recently sat down with two new moms who did just that, ordering Sema4 Natalis, our new supplemental newborn screening test which screens for 193 early onset genetic diseases – around five times the number tested for on a typical state-mandated “heel prick” screen – all of which are treatable. The test also includes a genetic analysis of how a child is likely to respond to 38 medications commonly prescribed during childhood. This pharmacogenetic information can help pediatricians personalize treatment for a child and avoid adverse effects or incorrect doses of drugs, including antibiotics.
Kathryn Keho, a mom of three, used Natalis to screen her infant son, Asher, when he was a month old. Likewise, Michelle Harrison tested her daughter Eva at the same age. Both moms were savvy about the genetic testing options available before and during pregnancy, having opted for carrier and prenatal screening, and were eager to take advantage of postnatal testing. “It’s nice to have information to rule out things that they don’t normally test for,” Kathryn said. “I was hoping it would give me peace of mind, and it did.” Michelle, a wealth planner from Massachusetts, expressed a similar motivation for using Natalis: “I wanted to do this test as I will always opt for more information than less. My eldest daughter is seven, and the testing on offer has certainly changed since she was born. We’ve had additional testing with each child as it became standard, as we’ve always wanted to go down the route of knowledge.”
The advantage of knowing can be life-changing for children who test positive, as all 193 of the diseases covered by Natalis have a treatment or other intervention currently available. This actionability was the deciding factor for Michelle: “If there hadn’t been a positive action available for all the diseases, I don’t think we would have wanted that to hang over her,” she said. “I’m a planner, so if there’s no way to plan for it, I won’t find it useful.”
Both women remarked on the ease of the testing process. Kathryn, a marketing director living in California, does all her shopping online and was pleased that she could initiate medical testing in the same manner. She also appreciated not having to carve out time to visit a doctor. Each Natalis order requires physician approval, to ensure suitability of the test for the child, but this approval is performed remotely by a physician from the PWN network. “I just hit ‘order,’” said Kathryn. “I didn’t have to set up an appointment or deal with anyone else. But there was a support phone number, and you do have the included genetic counselor access as well, so I could talk to someone if I needed to.”
Once a physician has approved the order on the basis of answers to a brief medical survey, the Natalis kit is sent out in the mail so that DNA samples can be collected at home. A gentle cheek swab is used to obtain the DNA, a procedure that’s easy on the babies and the parents. “Eva didn’t mind; we didn’t mind. It was a very easy process,” said Michelle. “I’ve never done an at-home DNA test, so it was totally foreign, but it couldn’t have been easier. The instructions were very clear.” Kathryn’s son, Asher, was also completely onboard with the genetic sampling going on in his mouth: “He thought it was a pacifier,” she joked.
It takes around two to three weeks to receive the results of the genetic analysis. Neither mom found the wait stressful. “I wasn’t incredibly worried,” said Kathryn. “Asher was in the NICU for 26 days, so this was nothing. There was a level of curiosity, wondering when the results are going to get in. But I didn’t feel like we were going to find anything scary.” Michelle said she put it out of her mind because the outcome was something she could not control. As soon as an email popped up telling them that results were available, the women logged into the Sema4 patient portal on their phones. Both Eva and Asher tested negative for all 193 diseases tested. “I felt reassured about his health and glad that I’d taken the proactive step to screen him,” said Kathryn. Michelle’s immediate feeling was one of relief: “Even though they’re all treatable, it’s still a treatment. I’d always opt for good health.”
While neither baby’s disease screen indicated the need for further action, the results of the accompanying pharmacogenetic screen gave the moms useful, actionable information on how their children would respond to a variety of medications commonly prescribed during the early years. The medication report provides descriptions of what the different drugs are and how they are used, outlines how the child is likely to respond to each, and includes a summary that a parent can print out to give to their child’s pediatrician, as well as keeping in his or her wallet.
Both children were flagged as carrying genetic variants that could affect how they metabolize a number of drugs. Asher carries a variant in the CYP2C19 gene which makes him a rapid metabolizer of Voriconazole, an antifungal agent. It is recommended that he is prescribed an alternative to this drug, should he ever need an antifungal medication. Asher is also advised to use two commonly prescribed cardiovascular drugs, Clopidogrel (an antiplatelet agent) and Warfarin (an anticoagulant drug), with caution. “It was useful to know what diseases the medications were for,” said Kathryn. “So, for example, right now Asher doesn’t have any signs of cardiovascular disease, but if he did, his doctors would have this information to help guide the drugs they prescribe.”
In addition to providing information on which drugs should be used with caution or, if possible, avoided, the medication screen also lets parents know which medications can be used with just standard precautions. Eva, for example, is predicted to respond normally to thiopurines, a class of anticancer drugs, as is Asher. This information will be valuable to them and their pediatricians growing up, should they ever need these medications.
For Michelle, the medication results were of particular importance because a family member has been through many ailments and finding drugs that work well for her has been a process of trial and error. “The medication screen was of interest to me so that Eva could have a leg up should she need to try any of these medications,” she said. “It gives her the advantage that it’s not going to be such a long process to find the right combination that works for her.”
Kathryn would like to see supplemental newborn screening, like that provided by Natalis, become increasingly common “for diseases that are treatable. For the minimum amount of effort, you can actually get results that are actionable. That makes a big difference,” she told me.
One month on, both moms are happy that they took the test and would recommend it to other parents. “It certainly wasn’t difficult to do, and it was very informative,” said Kathryn. “It’s a more thorough test than the standard newborn screening, so you’re going to get more information out of it. And, of course, there’s the advantage of it being done at home; there’s no blood involved, so your baby’s not hurt. I’d definitely recommend it to friends with kids or thinking of having kids.”
Kathryn and Michelle were provided access to Natalis free of charge.