Unlocking Answers: How Pediatric Genetic Testing Brings Hope to Families

When facing a complex or rare health condition, finding answers can feel like a long journey for families with children. AdventHealth is committed to easing that path by bringing world-class genetic insights directly to our families in East Florida.

Through our local collaboration with GeneDx, our littlest patients and their caregivers now have unprecedented access to advanced genomic testing that transforms how we understand, diagnose and treat diseases, giving families the peace of mind and support they need to help their kids live a whole life from the start.

Keep reading to learn how this innovative testing is changing lives right in our local communities, with insights from our expert, Jenna Bonaccorso, DO, FAAP, one of our beloved, board-certified pediatricians.

Advanced Pediatric Genetic Testing, Closer to Home

Getting world-class genetic testing no longer requires traveling long distances or navigating complex networks. By making GeneDx available locally, we’re actively reducing barriers to care. Patients can now access top-tier genomic technology right in their neighborhood clinic.

Earlier, More Accurate Diagnoses

For complex, rare or hard-to-explain conditions, time is everything. Genetic testing for children helps our medical teams identify underlying conditions much sooner than traditional methods. This advanced screening can deliver a clear diagnostic answer without the guesswork when every moment counts toward getting your child the proper care they need to thrive.

"When we can pinpoint a definitive genetic answer early on, it completely changes the trajectory of a young patient's care," explains Dr. Bonaccorso. "Instead of managing unexplained and uncomfortable symptoms, we can target the root cause immediately and avoid unnecessary, stressful delays for families,” she says.

GeneDx testing can help uncover the genetic cause of many complex, rare and hard-to-explain health conditions. Whether a child is experiencing developmental delays, neurological symptoms, congenital differences or other unexplained health concerns, genetic testing can provide answers that help families and care teams make more informed decisions about treatment and support.

Why Pediatric Genetic Testing is Done

Identifying the exact genetic cause of a condition can significantly shorten a the time it takes to get an accurate diagnosis, meaning less time spent on trial-and-error testing and less stress. Knowing the specific genetic variant can also guide targeted treatments, provide answers regarding prognosis and assist with family planning.

Next Steps to Get Your Child Tested

Genetic testing must be ordered by a licensed healthcare provider. If you’re interested in exploring GeneDx testing for your child, the best first step is to discuss their specific symptoms with their pediatrician or a genetic counselor who can order the appropriate tests based on their unique needs.

Whole-Person Support for the Entire Family

A genetic diagnosis does more than pinpoint a disease; it provides a roadmap for the future. These insights offer:

• Clarity: Understanding the exact cause of health challenges
• Family insights: Informing essential health and care decisions for immediate relatives
• Next steps: Defining clear, actionable paths forward

"Empowering families with concrete knowledge is at the heart of what we do," shares Dr. Bonaccorso. "A genetic insight provides a unified roadmap, giving parents and extended family members the vital information they need to advocate for their loved ones and make informed healthcare decisions together."

At AdventHealth, we treat your whole child, not just their symptoms. Your child’s DNA is wholly unique, and their medical care should be, too. GeneDx testing allows our specialists to design tailored treatment plans based on their specific genetic makeup with a focus on supporting their whole-person health, which includes their physical, emotional, spiritual and social health.

Seamless Provider Collaboration

Your genetic test results mark the first step of your family’s customized healthcare journey. AdventHealth specialists, primary care doctors and dedicated care teams work in unison to analyze your data. This seamless collaboration ensures your genetic insights directly guide your:

• Long-term care planning
• Specialized treatments
• Targeted medical referrals

Hope Through Leading-Edge Innovation

Medical science is evolving rapidly, and AdventHealth is leading the way. Partnering with GeneDx is just one way we bring pioneering innovation to our local communities. We’re excited to combine leading-edge technology with compassionate care to deliver renewed hope to the families we serve.

Schedule an appointment with Dr. Bonaccorso for exceptional pediatric care and to learn more about genetic testing.