Related Experiment Video
Updated: Nov 20, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Outcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics
Hadley Stevens Smith1, Rachel Franciskovich2, Andrea M Lewis2
1Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.
Insights
Prior authorization requests (PARs) for genetic testing in children show a high approval rate, but insurance coverage remains a barrier. When completed, genetic testing provides a high diagnostic yield for pediatric patients.
Area of Science:
- Pediatric Genetics
- Medical Diagnostics
- Health Services Research
Background:
- Genetic testing is crucial for diagnosing rare diseases in children.
- Patients often encounter barriers accessing recommended genetic tests.
- Prior authorization requests (PARs) reflect patient access to testing.
Purpose of the Study:
- To evaluate the outcomes of PARs for genetic tests in pediatric genetics clinics.
- To identify barriers to genetic testing access.
- To determine the diagnostic yield of completed genetic tests.
Main Methods:
- Retrospective review of 4,535 PARs for genetic tests in patients under 18.
- Data collected from two Texas children's hospitals (2017-2018).
- Analysis of PAR outcomes, diagnostic codes, and diagnostic yield.
Main Results:
- 79.9% of PARs received favorable outcomes.
- Public payers had higher approval rates (85.5%) than private payers (70.3%).
- Completed genetic tests yielded a diagnosis in 19.4% of cases.
Conclusions:
- Despite a high PAR approval rate, insurance coverage is a significant barrier.
- Genetic testing demonstrates a high diagnostic yield in pediatric patients.
- Improved clinical utility evidence and guidelines may enhance payer policies and access.
Purpose:
Genetic testing is an important diagnostic tool in pediatric genetics clinics, yet many patients face barriers to testing. We describe the outcomes of prior authorization requests (PARs) for genetic tests, one indicator of patient access to clinically recommended testing, in pediatric genetics clinics.
Methods:
We retrospectively reviewed PARs for genetic tests (n = 4,535) recommended for patients <18 years of age (n = 2,798) by pediatric medical geneticists at two children's hospitals in Texas, 2017-2018. We described PAR outcomes, accompanying diagnostic codes, and diagnostic yield.
Results:
The majority (79.9%) of PARs received a favorable outcome. PARs submitted to public payers were more likely to receive a favorable outcome compared with private payers (85.5% vs. 70.3%, respectively; p < 0.001). No diagnostic codes were associated with higher likelihood of PAR approval for exome sequencing. Among the 2,685 tests approved and completed, 522 (19.4%) resulted in a diagnosis.
Conclusion:
Though there was a high PAR approval rate, our findings suggest that insurance coverage remains one barrier to genetic testing. When completed, genetic testing had a high yield in our sample. Further evidence of clinical utility and development of clinical practice guidelines may inform payer medical policy development and improve access to testing in the future.
Related Concept Videos
Genetic Screens
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
Behavioral Genetics and Its Designs
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Pharmacokinetics in Pediatric Patients: Drug Excretion

