New AAP Guidance: Exome and genome sequencing recommended as first-line tests. Learn more

In the Know

Now is the moment

With annual deductibles potentially met, now is a particularly good time to pursue comprehensive genetic testing.

October 22, 2025 4 min read

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As we near the end of the year, many patients have met their yearly health insurance deductibles.  

That makes it a particularly good time to help your patients find answers—especially given that the timing of insurance utilization can affect whether families choose to pursue testing.  

When patients have met their deductible, they may be more likely to proceed with recommended genetic testing, as the barrier of out-of-pocket costs is reduced or eliminated.

Exome and genome sequencing are first-line tools

Many professional societies recommend exome and genome sequencing as first-line tests that can be ordered as soon as symptoms or features are identified.

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American Academy of Pediatrics Recommends exome and genome testing as a first-tier test for:1 

  • global developmental delay
  • intellectual disability
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American College of Medical Genetics and Genomics Recommends exome or genome as a first-tier test for:2  

  • developmental delay
  • intellectual disability
  • congenital anomalies
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National Society of Genetic Counselors Recommends exome or genome sequencing for all individuals with:3 

  • unexplained epilepsy
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American Epilepsy Society Endorses the NSGC guideline 3 recommending exome or genome sequencing for individuals with: 

  • unexplained epilepsy
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International Precision Child Health Partnership Recommends rapid exome or genome as a first-tier test for:4 

  • NICU patients with unexplained hypotonia

You play a key role

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If your patients were hesitant to get comprehensive genetic testing earlier this year due to concerns about out-of-pocket costs, their response may change if they’ve now met their annual deductible.  

In addition to discussing how year-end can be a key window when insurance coverage may stretch further, you can also discuss how comprehensive testing like exome and genome sequencing can help:

  • Shorten the diagnostic odyssey
  • Guide referrals
  • Reduce unnecessary tests and treatments
  • Connect patients with community

By raising this now, you help families make informed decisions before benefits reset.

An especially cost-effective time to act

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For families with deductibles met, year-end can be an especially cost-effective time to act. Even families that recognize the importance of genomic answers may choose to forgo testing if cost is a concern.

Missing the key window this year could mean waiting a full year before considering testing again. That’s a full year without answers.

GeneDx: Your partner in finding answers

GeneDx is committed to helping patients identify the best billing option for their individual situation. That includes Patient Access Solutions that can to help reduce barriers year-round:

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Cost estimate support: For patients with contracted commercial insurance and Medicare Advantage plans, we offer the option to contact the patient’s health insurer to obtain a cost estimate based on their current benefits, including their deductible and coinsurance. 

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Financial assistance: Our robust Financial Assistance Program can help reduce the potential out-of-pocket costs associated with testing.

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Epilepsy Partnership Program: This program provides greater access to exome testing for eligible patients by creating an option if their health insurance company denies their claim or if they are uninsured.

It’s time for another conversation

The end of year will be here soon. Now is the time to talk to your eligible patients about exome or genome sequencing.  Your guidance can make the difference.

Don’t delay. Samples must be in our lab before December 31 for testing to be billed to a patient’s 2025 benefits.

Have questions?

Our team is here to share answers about how GeneDx can support prior authorizations, provide cost estimates before the year’s end, and more.

References: 1. Rodan LH, et al. Pediatrics. 2025; e2025072219. doi:10.1542/peds.2025-072219. 2. Manickam K, McClain MR, Demmer LA, et al. Genet Med. 2021;23(11):2029-2037. doi: 10.1038/s41436-021-01242. 3. Smith L, Malinowski J, Ceulemans S, et al. J Genet Couns. 2022 Oct 24. Doi.org/10.1002/jgc4.1646. 4. Morton SU, Christodoulou J, Costain G, et al. JAMA Neurol. 2022 Apr 1;79(4):405-413. doi: 10.1001/jamaneurol.2022.0067. PMID: 35254387.