Family and Friends Health Care

What Parents Should Know About Genomics Testing

A mother and father spending time with their son

Choose the health content that’s right for you, and get it delivered right in your inbox.

When something doesn’t seem quite right with your child, you want to know how you can help — and fast. That’s why AdventHealth for Children partnered with a world leader in rapid whole-genome sequencing, Rady Children’s Institute for Genomic Medicine. At AdventHealth for Children, hundreds of children have received genomic testing to help better diagnose and manage their medical conditions, allowing for faster, more precise diagnoses for our pediatric patients.

 

What Is Genomic Testing?

Genomic testing is a type of test that looks at a person’s genes, how the genes interact and what it means for a person’s health. This is different from genetic testing; genetic tests look for single-gene mutations, but genomic tests look at all of your genes.

Genomic testing has become much more common in recent years, but right now, AdventHealth for Children is the only children’s hospital offering rapid testing in Central Florida and the second in the state of Florida. 

New discoveries have revealed how genomics is tied to disease development, which gives health care providers a better understanding of how diseases originate and how to best treat them.

 

Genomics Highlights Genes and Disease Development

A genomics test can show more insights about disease risk, progression and possibly even recurrence — and predict future problems before they even occur. Genomic testing is so important because it helps explain how your genetic makeup may impact a disease's development.

Through our partnership with Rady Children’s Institute for Genomic Medicine (RCIGM), AdventHealth for Children is able to use Rapid Whole Genome Sequencing to care for newborns and children in intensive care with life-threatening conditions of unknown origin. We recently cared for an infant who was failing to thrive for unknown reasons. After genomic testing, he was diagnosed with Hereditary Fructose Intolerance and immediately put on a new treatment plan. He is now healthy and happy, and his parents know how to care for him as he grows.

 

Meet Our Genomic Testing Specialists at AdventHealth

AdventHealth has expertise in both pediatric and adult medical genetics and genomics, and we continue to expand our clinical staff to provide comprehensive, coordinated care around genomic diseases. AdventHealth for Children recently welcomed two new members to the care team who specialize in genomics: Majed Dasouki, MD, and Margarita Nieto Moreno, MD.

Dr. Dasouki is a board-certified clinical and biochemical geneticist and cytogeneticist. He is the Chairman of the Department of Medical Genetics and Genomics, as well as the Medical Director of Genomics & Personalized Health at AdventHealth for Children. He specializes in familial genetic disorders, prenatal genetic abnormalities and undiagnosed genetic diseases.  

Dr. Moreno is a genetics physician and fellowship-trained biochemical geneticist. She specializes in all areas of pediatric genetics. “Our team looks forward to helping patients get diagnosed early and accurately through genomic testing,” says Dr. Moreno.

Both Dr. Dasouski and Dr. Moreno are accepting new patients of all ages at AdventHealth Orlando and have expertise in clinical trials for genetic disorders. Any adult or child with a suspected or known genetic or familial condition qualifies for genetic testing and can be referred by a primary care physician or pediatrician.

 

We’re Here to Help

From before a diagnosis to well beyond, we’re here for you and your family. Learn more about AdventHealth for Children’s Personalized Health and Genomics Program today. You can also learn more about our comprehensive pediatric care network by visiting AdventHealthforChildren.com.

Recent Blogs

A children's football game
Blog
Staying Safe Playing Sports During the Pandemic
A group of men resting on the sidelines during a game of basketball.
Blog
What to Expect at a Prostate Screening (It’s Not as Bad as You Think)
Blog
Long-Term Implications: COVID-19 Linked to Cognitive Decline
A patient getting cleaned up after a shot
Blog
Will I Need an Annual COVID-19 Shot?
Blog
Rest vs. Sleep: Know the Difference for Whole Health
View More Articles