Unlocking the Future of Pediatric Care with Genomic Screening

It may sound a little "sci-fi," but genetic testing has real potential to become a powerful tool for parents who want to proactively understand their child’s health! And Nurture Genomics has been leading the charge with its screening services that give families insights into treatable childhood conditions—information that could make a real difference in early care.

To better understand this emerging field, we chatted with Molly O’Shea—Pediatric Medical Director at Nurture Genomics—about how this screening fits into traditional pediatric care, common concerns parents may have, and the possibilities it offers for improving kids’ health. Whether you’re curious about genetic testing for your own little ones or just want to learn more about how healthcare as we know it is continuing to evolve, our conversation offers valuable insight into genomic screening! 

What inspired you to get involved with Nurture Genomics?

The prospect of knowing in advance a child’s risk for treatable, early childhood-onset conditions that are often really hard to diagnose seemed like a dream come true! Having been in primary care pediatric practice for 30 years, I have seen my fair share of children who have uncommon conditions. The way medicine works is that we look for the common things first and may not even consider the uncommon things, especially genetic conditions, for a very long time and years of missed treatment opportunities have passed. Nurture’s screen short-circuits that process. By knowing risk ahead of time, as soon as symptoms appear (or even before), you know what to do! The child can avoid excessive testing, and the family can avoid seeing unnecessary specialists. It’s amazing. I needed to be a part of this.

Can you share a little bit about the role you play as Pediatric Medical Director?

As the Pediatric Medical Director at Nurture Genomics, my primary roles are to create unique integration solutions and then facilitate the integration of Nurture’s screening service into pediatric practices. Parents will need and want their child’s genetic screening information available in the medical home. Ensuring their pediatrician has it and understands it is my main job. In addition, I spend time talking to pediatricians and parents about Nurture’s promise of proactive genomic screening and answering their questions.

How can parents use the insights from genetic testing?

Parents can use these insights, even when they are normal, to make proactive decisions about their child’s health. If Nurture’s screen reveals a risk, in discussion with our genetic counseling team and their pediatrician, the parents make a proactive plan to address the risk and mitigate the condition. Improving health outcomes is the goal. Normal results mean that when parents have concerns about their child’s health, for the genetic variations on the Nurture screen, parents can breathe easy.

Is there anything parents should consider before opting for these tests?

Nurture’s screening service is designed for healthy kids. Children who have symptoms that are concerning to parents or pediatricians should seek guidance about more specific testing from a pediatric specialist. Parents who know they carry a genetic risk should talk with one of our genetic counselors before undertaking a Nurture Screening. Any parent can meet with one of our genetic counselors to have any of their questions answered.

What common misconceptions do parents have about genetic testing?

One of the biggest surprises parents discover when we talk about Nurture’s Screening, is that prenatal genetic screening is not comprehensive.  Many parents think that the genetic screening they had during pregnancy is complete, especially if they had an expanded NIPT and carrier screen. Hundreds of treatable, childhood-onset conditions are missed in prenatal testing.

What advice would you give to parents who are hesitant about exploring genetic testing?

Sometimes parents are concerned that knowing the information will just make them worry more. We have found (and so has the research!) that knowing the information does not increase anxiety because that information is accompanied by a clear plan. Having the support of the genetic counselor, your pediatrician and clear plan allows parents to take charge of their child’s health. Every parent whose child has had a positive screen is so happy to have the opportunity to take steps to improve their child’s health outcome.

Can you tell me about a time when you really saw the positive impact of your work at Nurture Genomics?

Shaye received her son Pierce’s Nurture Screen results when he was about 2 months old. She was surprised to find that he had a condition called G6PD which can activate and cause red blood cells to break down when exposed to certain foods and medications. She met with Erynn, one of Nurture’s genetic counselors, and understood what she needed to do as a proactive parent. Pierce’s pediatrician had received the results as well. Within a week, he needed treatment for thrush (a yeast infection in the mouth). It turned out that Pierce’s pediatrician looked closely at the medication options in order to choose one that would not activate his G6PD. Shaye was so happy and relieved that she and Pierce’s pediatrician knew in advance about Pierce’s condition and were able to be proactive in his care. 

What are the most exciting advancements in genomics that you think could revolutionize pediatric care in the near future?

Nurture’s screening is just the beginning. Our ability to understand children’s health risks for conditions like diabetes, celiac disease, and neuro-developmental conditions through genetic markers is getting more and more ready for prime time. Being able then to make adjustments in diet or early intervention are so exciting and not too far off! In addition, we are also increasingly able to make better medication choices for our children based on their genetic profiles and that is exciting as well. Personalized medicine is coming soon.  

If a parent wanted to learn more about Nurture Genomics where should they go?

Start with Nurture’s website for detailed info on how it works (hint: it’s a gentle cheek swab), the conditions we screen for, educational videos, and Nurture’s blog. Not ready for all that? Follow us on Instagram or Facebook and get to know us better.

Disclaimer: The information on our site is NOT medical advice for any specific person or condition. It is only meant as general information. If you have any medical questions and concerns about your child or yourself, please contact your health provider.