Help guide your patients’ genetic testing journey.

Indications for genetic testing according to the American College of Medical Genetics and Genomics (ACMG) and/or American Academy of Pediatrics (AAP):

• Developmental delay
• Developmental regression
• Intellectual disability
• Autism
• Growth differences, such as poor growth, or overgrowth
• Birth defects
• Congenital hearing loss
• Cerebral palsy

There are many reasons that genetic testing should be considered. For pediatric patients having neurodevelopmental features, the ACMG has genetic testing practice guidelines, here.

While ACMG does not have guidelines for patients with epilepsy alone, professional recommendations curated by the National Society of Genetic Counselors (NSGC) for unexplained epilepsy were published in 2022.

It is important to note to patients and their families that a genetic diagnosis explains the genetic etiology of a patient’s medical features but does not establish clinical diagnoses such as autism, which relies on a set of behavioral characteristics to have a diagnosis

There are many potential benefits of receiving a genetic diagnosis, including (Ledbetter et al 2025):

• Allowing more accurate prognostication of long-term outcomes
• Facilitating timely identification and treatment of co-occurring medical conditions
• Informing genetic counseling about the chance of recurrence in future pregnancies
• Refining selection of treatment options for those who need them
• Identifying support and advocacy resources
• Ending the diagnostic odyssey for families

References

Ledbetter D, Finucane B, MorenoDeLuca D, Myers S. Mainstreaming diagnostic genetic testing and precision medicine for autism spectrum disorder. Psychiatr Clin N Am (2025)
DOI: 10.1016/j.psc.2025.01.010

There are several different types of diagnostic genetic tests; this does not include genetic screening tests such as what is used in prenatal screening or direct-toconsumer testing.

Genetic testing used in a pediatric clinic includes: karyotype, chromosomal microarray, gene panel, exome sequencing and genome sequencing. The following table includes some details about these different tests.

1. de Assis V, Giugni CS, Ros ST. Evaluation of Recurrent Pregnancy Loss. Obstet Gynecol. 2024;143(5):645-659. doi:10.1097/AOG.0000000000005498
2. Silva M, de Leeuw N, Mann K, et al. European guidelines for constitutional cytogenomic analysis. Eur J Hum Genet. 2019;27(1):1-16. doi:10.1038/s41431-018-0244-x
3. Schaefer, G. B., Mendelsohn, N. J. & Professional Practice and Guidelines Committee. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet. Med. 15, 399–407 (2013).
4. Shao L, Akkari Y, Cooley LD, et al. Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(10):1818-1829. doi:10.1038/s41436-021-01214-w
5. Manickam, K. et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet. Med. 23, 2029–2037 (2021).
6. Malinowski J, Miller DT, Demmer L, et al. Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability. Genet Med. 2020;22(6):986-1004. doi:10.1038/s41436-020-0771-z
7. Rodan LH, Stoler J, Chen E, Geleske T; Council on Genetics . Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report. Pediatrics. 2025;156(1):e2025072219. doi:10.1542/peds.2025-072219

Most outpatient genetic testing requires prior authorization from the insurance to be considered for coverage. Genetic testing labs may assist with this process and obtain prior authorization on behalf of the ordering provider or perform a “benefits investigation” that will provide an estimated out-of-pocket expense based on the individual’s specific insurance policy. However, these are estimates, so patients should never be told that insurance will or will not cover testing without speaking with the lab or insurance company directly.

Insurance companies have different coverage policies and criteria for genetic testing. Therefore, careful review of a specific payor’s policy can be helpful in determining if genetic testing may be covered. In addition, these policies may change over time as new publications supporting the utility of genetic testing are published, so it is important to remain up-to-date with different insurance policies and/or contact the genetic testing lab for further guidance.

Medicaid policies for genetic testing coverage vary by state. Information on different states' Medicaid coverage for genetic testing can be found here: genetic testing. Please note that Medicaid coverage policies may mirror commercial insurance policy requirements for justification of medical necessity.

In addition, genetic testing labs are often available to help navigate the nuances of genetic testing and insurance coverage for their patients, so test-specific or insurance-specific questions can be directed to the lab providing the test.

In general, payors want to understand how the genetic testing and diagnosis will directly impact the medical management of the individual. Therefore, documenting in your clinic note or recommendations how the testing will directly impact medical management (e.g., recommending screening or surveillance based on the specific medical management and natural history of the condition, reducing unnecessary tests or imaging orders, etc.) can be helpful.

In the event of a denial, some insurance carriers may allow providers to appeal or schedule a peer-to-peer review, where the provider will have the opportunity to discuss the medical necessity of the genetic testing with a medical provider from the insurance company.

When ordering genetic testing, you should ensure that the genetic testing company can return clinical-grade testing results. This is typically achieved by using a laboratory that is CLIA and/or CAP certified. Many laboratories worldwide hold these accreditations.

CLIA (Clinical Laboratory Improvement Amendments) refers to genetic tests performed in laboratories certified under the CLIA program, which ensures that they meet federal standards for the quality, accuracy, and reliability of testing.

CAP (College of American Pathologists) offers an additional, voluntary accreditation for clinical testing laboratories. Its Laboratory Accreditation Program provides a rigorous process through which laboratories can demonstrate their commitment to quality and patient safety.

If a patient receives a genetic diagnosis, referral to a genetics provider is indicated to ensure that the patient and family receive appropriate genetic counseling and follow-up care.

If a referral to a genetics clinic within the United States or Canada has a long wait time, and the patient or family would like to access genetic counseling sooner, several telemedicine companies offer genetic counseling services.

Start Genetic does not endorse any specific companies that provide telemedicine genetic counseling services.

Recognizing that it may be time-consuming to identify these companies, a list of telemedicine genetic counseling providers may be provided for consideration. In addition, genetic testing laboratories may also offer genetic counseling services to patients and healthcare providers.

Please contact Start Genetic if you are a telemedicine genetic counseling service and would like to be included.

Globally, genetic counseling is becoming more widely available. Table 3 in this recent publication by Ormond et al., 2024, reviews the various genetics and genetic counseling governing bodies globally.1 If looking for genetic counseling in a particular country, please review Tables 2 and 3 in that publication, and Table 3 included below. *

References
Ormond KE, Abad PJ, MacLeod R, Nishigaki M, Wessels TM. The global status of genetic counselors in 2023: What has changed in the past 5 years? Genet Med Open. 2024;2(Suppl 2):101887. Published 2024 Aug 8. DOI: 10.1016/j.gimo.2024.101887

If no genetic change is identified, a referral to a genetics provider may still be indicated. Currently, genetic testing identifies a cause for an individual’s medical or developmental concerns approximately 30-40% of the time.

Therefore, most of the time, genetic testing may come back as “normal”, “negative”, or “non-diagnostic”.

This does not mean that the individual does not have a genetic etiology for their symptoms, it may just mean that we have not discovered the genetic cause yet.

Therefore, evaluation by a genetics provider and reanalysis of previous non-diagnostic genetic testing over subsequent years may be indicated.

The Genetic Information Nondiscrimination Act (GINA) protects individuals against discrimination based on their genetic information in health coverage and in employment. However, this law does not apply to health insurance if a company has less than 15 employees, life insurance, disability, or long-term care insurance. For additional information regarding GINA, please see here.