Why year-end can be a good time to order genetic testing

Key Takeaways

• Insurance coverage and deductible status can affect potential out-of-pocket costs for genetic testing; meeting a deductible may reduce, but does not guarantee elimination of, patient costs.
• Year-end can be an opportunity to revisit eligible patients who previously delayed testing because of cost or coverage concerns.
• Exome and genome sequencing are recommended as first-line or first-tier tests by professional societies for several clinical presentations.
• GeneDx offers financial and access support, including cost estimates, financial assistance and Accelerating Answers Programs, to help reduce barriers to testing.

Why year-end can be a good time to revisit genetic testing

A patient who postponed genetic testing earlier in the year because of cost or coverage concerns may be in a different position now. As year-end approaches, clinicians have an opportunity to revisit testing with eligible patients before current-year benefits reset.

A “not now” earlier in the year may not still be a “no.” Reopening the conversation can help families make an informed decision based on their clinical needs, insurance benefits and potential out-of-pocket costs.

How insurance coverage and deductibles can affect genetic testing costs

Insurance coverage for genetic testing varies by health plan, test and clinical situation. A patient’s deductible, coinsurance and other plan benefits can also affect what they may owe out of pocket. For patients whose health plan benefits reset at the start of a new plan year, timing may affect their potential out-of-pocket responsibility for covered genetic testing.

For patients who have met more of their annual deductible, the potential out-of-pocket cost of covered testing may be lower than it was earlier in the year. Meeting a deductible does not necessarily mean a patient will have no cost, though; coverage, coinsurance and other plan rules still apply.

For some families, year-end may therefore be a useful time to understand current benefits, obtain a cost estimate and reconsider recommended testing before benefits reset.

Exome and genome sequencing are first-line tools

For several clinical presentations, professional societies recommend exome or genome sequencing as a first-line or first-tier test that can be considered early in the diagnostic process:

• American Academy of Pediatrics: exome and genome testing as a first-tier test for global developmental delay and intellectual disability.¹

• American College of Medical Genetics and Genomics: exome or genome sequencing as a first- or second-tier test for pediatric patients with congenital anomalies, developmental delay or intellectual disability.²

• National Society of Genetic Counselors: exome or genome sequencing for individuals with unexplained epilepsy.³

• American Epilepsy Society: endorses the NSGC practice guideline for unexplained epilepsy.³

• International Precision Child Health Partnership: rapid exome or genome sequencing as a first-tier test for NICU patients with unexplained hypotonia.⁴

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Comprehensive testing can help shorten the diagnostic odyssey, guide referrals, reduce unnecessary tests and treatments, and connect patients and families with relevant resources and communities.

Patients to consider revisiting before benefits reset

As year-end approaches, consider reviewing eligible patients who:

• Have a clinical presentation for which exome or genome sequencing is recommended or otherwise clinically indicated.

• Previously deferred genetic testing because of cost or insurance concerns.

• Continue to see multiple specialists or undergo testing without an established diagnosis.

• Were referred for genetic testing but did not complete the process.

• May have a different insurance or financial situation than they did earlier in the year.

Raising the topic again can help families make an informed decision based on their clinical needs and current benefits, not the circumstances they faced months ago.

How GeneDx helps patients understand potential genetic testing costs

GeneDx Patient Access Solutions are designed to help reduce financial and administrative barriers to testing year-round. Support may include the following, depending on the patient’s insurance and eligibility.

Cost estimate support

To help insured patients understand what they may expect to pay out of pocket, GeneDx offers a cost estimate tool within the provider portal. Providers can access the tool during the order process by starting an order. The amount provided is an estimate only; the patient's insurance determines the final bill.

Financial assistance

The GeneDx Financial Assistance Program can help reduce potential out-of-pocket costs associated with testing for eligible patients. In 2025, 90% of patients had an out-of-pocket responsibility of between $0-$100 after insurance for outpatient exome or genome testing.^5,6

Accelerating Answers Programs

GeneDx Accelerating Answers Programs are genetic testing access programs designed to help reduce or eliminate cost barriers for eligible patients. Through sponsored testing and partnership programs, eligible patients may have access to exome, genome, or other genetic testing across a range of conditions and clinical indications.

Act before benefits reset

Year-end can be a useful moment to identify eligible patients, revisit testing conversations and help families understand their current coverage. Starting early is important because a complete order, required sample(s) and other information may be needed before testing can be activated and billed under current-year benefits.

In order to ensure 2026 billing, testing must be started before the end of the year. If testing does not start until January 2027, the cost for testing may be applied to the patient’s 2027 health benefits. For exome, genome, or Xpanded testing, if you do not expect parental samples to be received in time for testing to be activated with 2026 billing, please contact us at billing@genedx.com to determine how to proceed.

If you have an eligible patient who may benefit from exome or genome sequencing, talk with the family now. GeneDx can help with prior authorization support, cost estimates, billing questions and other Patient Financial & Access Support.