Bringing Genomic Medicine to Your Pediatric Office
A few years ago, if I told you that eventually you'd be expected to order genomic testing, you would have laughed and gone back to referring patients to genetics. Not because you can't understand the testing. Because the healthcare system trained you not to touch it.
Too complicated.
Too specialized.
Too much insurance risk.
Too many workflow headaches.
Too easy to get stuck holding the bag.
And yet here we are. Things are changing. Pediatric CEO is hosting a seminar next week for their VIP members about allergy delabeling (and as a kid born in the 60s with a "penicillin allergy," I should probably have it done). Your allergists don't have time to do it and it's good medicine for everyone. Or...how about all of the amazing work being done on universal T1D testing? 2 or 3 years ago, I would have rolled my eyes at it, too. Now, I realize how important and possible it is. [A special shoutout to Dr. Herb Bravo, who is spearheading this message, and to those cool practices that have already implemented it...and found kids.]
For those of you who are feeling the pinch of the post-COVID viral pendulum receding, looking for these opportunities to extend the quality of your care is vital. This isn't like teeth whitening or botox in the office.
The American Academy of Pediatrics now recommends exome sequencing, genome sequencing, and chromosomal microarray as first-tier tests for children with developmental delay — and specifically states that pediatricians should initiate testing directly.
That’s a pretty massive philosophical shift.
The problem? Recommendations are easy. Implementation is hard.
Most pediatric practices are already overloaded trying to manage behavioral health, developmental screening, vaccine counseling, prior auths, staffing shortages, and the payors continuing to work hard to deny payment.
That’s why I think the work being done by Cure NDD (Consortium for Neurodevelopmental Disorders) is interesting.
They’re running a national 3-month pilot called LEAD: Leveraging Early Genomics for Assessment of Developmental Delay. And how a regular pediatric office can actually do it without detonating workflow.
Families dealing with developmental delay often end up trapped in a diagnostic scavenger hunt. Multiple referrals. Long waits. Fragmented and contradictory information. Endless uncertainty.
Meanwhile, the pediatrician — the person who actually knows the child best — gets positioned as a middleman instead of the quarterback.
That’s backwards.
The LEAD pilot is trying to close that gap by helping pediatricians integrate genomic testing directly into routine practice through:
- practical workflow training
- implementation support
- insurance and payment guidance [note the emphasis, often missing]
- real-world integration strategies
Primary care pediatrics is evolving whether we like it or not.
The practices that survive independently over the next decade are probably not the ones that avoid complexity. They’ll be the ones that learn how to operationalize it before everyone else does.
That doesn’t mean every pediatrician suddenly becomes a geneticist.
It means pediatricians stop underestimating themselves. And you know how I feel about that.
Because if you can manage ADHD, autism screening, adolescent depression, vaccine hesitancy, prior auths, feeding disorders, school dysfunction, sports clearance politics, and RSV season simultaneously while answering portal messages during lunch…
…you can probably learn how to order a genomic test.
I asked Dr. Jin Lee to summarize the pilot for me:
Why join (what you get):
- Possible Co-authorship on national publications
- Practical, plug-and-play workflows: Hands-on training on how to order and integrate genomic testing
- Insurance and reimbursement support: Reduce denials and uncertainty around coverage
Why this matters for your patients:
- Faster and more accurate diagnoses
- Reduced diagnostic odyssey for families
- More targeted care planning and referrals
This is one of the first national efforts focused on making genomics truly accessible at the primary care level. Learn more: https://www.curendd.org/projects and email the founder, Dr. Jin Lee at jin@curendd.org
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