AAP's New Genetic Testing Guidance Could Mean Faster Diagnoses For Children
Then begins a very long process. First, you share your concerns with your pediatrician, and then you may spend years focused on symptoms without knowing the root cause. While speech therapy, play therapy, and physical therapy are wonderful and valuable tools, you also want to know exactly what's going on, and the newest guidelines may get you there faster.
The American Academy of Pediatrics is now recommending genetic testing when signs indicate a genetic disorder, which can lead to better treatment and greater clarity for the family's future.
The most basic and direct reason that genetic testing matters is for treatment.
While many genetic disorders may have initial symptoms (like developmental delays) that look similar to one another, the treatment can vary. Medical science is currently working on gene therapies (such as the one that is currently showing early success in treating a child with CPS1 deficiency in a recent breakthrough) that may eventually be a cure for some disorders.
For others, the treatment that is effective in reducing symptoms can depend on the cause, and genetic screening allows a doctor to target your child's symptoms with the most effective care.
Further, genetic testing can help predict the trajectory of your child's health and guide you in family planning decisions by helping determine the likelihood of similar conditions in your child's potential siblings.
The new report from the AAP, which will be published in the July issue of Pediatrics, encourages doctors to initiate genetic testing promptly if symptoms warrant it, rather than delaying and monitoring symptoms for changes or starting with narrower tests that may only screen for one genetic cause at a time.
This starts with a 'phenotype-driven approach,' which is what you're used to in a doctor's office. A phenotype is essentially a trait that you can see, presumed to be caused by genetics; a genotype is the actual genetic information that causes that trait.
First, your doctor would take a family history and carry out relevant tests, such as MRIs, vision and hearing tests, as well as other outward observations of growth and development. Then, as soon as the testing indicated, they would move on to a genetic screening, which could affirm or rule out conditions like Fragile X Syndrome, Rett Syndrome, and Angelman Syndrome.
The significant difference lies in the push to move quickly to broad genetic screening. Katherine Stueland, President and CEO of GeneDx, notes that this could 'slash the average five-year diagnostic odyssey to a fraction of that time, drive down healthcare costs, and, most importantly, change children's lives sooner.'
This shift represents an overall acknowledgment in the medical field that early genetic testing is the future and will bring about faster diagnoses and more accurate treatment. Britt Johnson, PhD, FACMG, and SVP of Medical Affairs at GeneDx, told Parenting Patch:
'The American Academy of Pediatrics (AAP) now recommending exome and genome sequencing as first-line tests for children with global developmental delay (GDD) or intellectual disability (ID) is a significant advancement for both pediatrics and precision medicine. This update reflects the growing evidence that these tests offer higher diagnostic yield and are more cost-effective when used early in the diagnostic process, a major win for both families and healthcare providers.
For parents, this marks a powerful shift: pediatricians can now initiate advanced genetic testing sooner, helping to end long periods of uncertainty and misdiagnosis. Earlier access to comprehensive genomic testing means faster answers, more informed care, and potentially earlier interventions and treatments. With these updates, we can now give every child a better chance at a healthy future.
The AAP's update will have a lasting impact on pediatric care and outcomes. GeneDx is committed to supporting this shift by helping educate pediatricians and equipping them with the tools and technology to provide timely, accurate diagnoses. Exome and genome sequencing are no longer tests of last resort—they are the new standard of care – and we're proud to help lead this next chapter in improving children's health.'
With these new standards being published in July, parents can expect to begin seeing the effects in their pediatricians' offices in coming months and years.
Health insurance companies are beginning to broaden their coverage for genetic screenings. While they may have previously covered one or two narrow genetic tests at a time, many companies are now moving to cover broader genome sequencing that can provide more thorough answers more quickly.
Adding the latest AAP guidance may mean that, in the near future, families are less likely to receive surprise bills or face pushback from their health insurance companies regarding whether genetic screening is covered.
As genetic testing increasingly becomes the standard for diagnostics, insurance companies may require fewer extra steps, referrals, and authorizations before approving it, and pricing typically becomes more accessible, including for families reliant on programs like Medicaid.
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