Key Takeaways:
- Earlier genetic testing can help families reach answers sooner and inform care decisions.
- General pediatricians play an important role in recognizing when genetic testing may be appropriate.
- Ordering genetic testing, interpreting results, and supporting families may be more approachable than many providers expect.
- Dr. Tommy Martin shares practical guidance to help pediatricians bring genetic testing into everyday clinical practice.
Key insights from Dr. Tommy Martin on earlier genetic testing
This article highlights key takeaways from GeneDx's webinar, Early Answers, More Informed Care: A Guide to Genetic Testing in Pediatrics, featuring Dr. Tommy Martin.
General pediatricians are often the first to notice when a child's clinical picture doesn't fully add up. A child may be missing milestones, presenting with multiple seemingly unrelated symptoms, or moving through referrals and therapies without a clear explanation.
In the webinar, Dr. Tommy Martin shares practical guidance on when to consider pediatric genetic testing, which patients may benefit, and how genetic testing can fit into everyday pediatric care.
1. Genetic testing can help families reach answers sooner
For many families, finding the cause of developmental concerns can involve a lengthy journey of specialist appointments, referrals, and uncertainty. Dr. Tommy Martin experienced this firsthand while seeking answers for his son, Oliver.
Today, the American Academy of Pediatrics (AAP) recommends exome sequencing, alongside chromosomal microarray, as a first-line genetic evaluation for many children with global developmental delay (GDD) or intellectual disability (ID).¹
Earlier genetic answers can help:
- Inform care planning and specialist referrals2
- Support decisions around treatment selection, medication changes, and management2
- Avoid unnecessary tests or procedures2
- Provide families with greater clarity around recurrence risk and future family planning2
For pediatricians, acting earlier can help move families from uncertainty toward a clearer path forward.
2. Knowing when to consider testing often starts with recognizing patterns
One of the biggest misconceptions about genetic testing is that it should only be considered when symptoms are severe or highly specific.
During the webinar, Dr. Tommy Martin highlighted clinical diagnoses, signs, and symptoms that align with the American Academy of Pediatrics' updated guidance for when genetic testing should be considered, including:
Global developmental delay
Children who miss milestones across two or more developmental domains may meet criteria for global developmental delay.3
Examples include:
- Speech delays
- Motor delays
- Cognitive delays
- Social or adaptive challenges
Many of these children are already participating in speech, occupational, or physical therapy before an underlying cause is identified.
Intellectual disability
Significant limitations in both intellectual functioning and adaptive behavior with onset during the developmental period. Usually diagnosed after the age of five, when developmental delays persist.3
Global developmental delay or intellectual disability may also co-occur alongside other conditions such as epilepsy or autism spectrum disorder.4
A practical question providers can ask is: "Does everything I'm seeing fit a pattern that I can explain?"
If the answer is no, genetic testing may be an appropriate next step.
3. Ordering Genetic Testing—and Discussing Results—May Be More Approachable Than You Think
Dr. Tommy Martin highlighted pediatricians and genetics specialists as partners in care. By initiating genetic testing when appropriate, pediatricians can help patients and families reach answers earlier and create a clearer roadmap for care, including referrals to genetics, other specialists, or therapies with results already in hand.
Choosing the right test
For many children with global developmental delay or intellectual disability, exome sequencing with parental samples (trio testing), together with chromosomal microarray, may be an appropriate first step.
Why exome sequencing?
~85% of disease-causing variants are found within the exome5, and exome sequencing is 2x more likely to find a genetic diagnosis for GDD/ID than chromosomal microarray (CMA) alone6, and 90% more likely to provide an answer than FMR1 testing6 (Fragile X).
Including parental samples (trio testing) can further improve interpretation and increase the likelihood of obtaining a genetic diagnosis, by an additional 7- 15%.6-9
Understanding results
Genetic test results can provide value regardless of outcome.
- A positive result may identify a genetic diagnosis that explains a child’s clinical presentation and helps inform next steps in care.
- A negative result means that a genetic diagnosis was not identified based on what we know today. It can still provide valuable clarity for the care team and family and help inform additional evaluation and ongoing management.
In other words, testing can help providers and families move forward with more information than they had before.
Supporting families
When discussing results, families often need clarity, direction, and support more than they need every answer immediately.
Dr. Tommy Martin encouraged providers to focus on helping families understand what was found, what it means today, and what next steps may be available. He also highlighted the importance of connecting families to appropriate resources and communities when possible.
The Bottom Line
General pediatricians are uniquely positioned to recognize early signs that there could be an underlying genetic cause.
As Dr. Tommy Martin shared throughout the webinar, earlier genetic testing can help provide answers that inform care, guide referrals, and support families as they navigate the next steps in their child's journey. The goal is not to replace genetics specialists—it's to help get the process started sooner.
The result? More informed care, greater confidence in clinical decision-making, and a clearer path forward for families and clinicians seeking answers.
.png)