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Barriers to Genetic Testing in Vascular Malformations.

Alexandra J Borst^1,2, Adrienne M Hammill^3,4, Shelley E Crary⁵

¹Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

JAMA Network Open

|May 23, 2023

Summary

Genetic testing for vascular malformations (VMs) faces significant logistical hurdles, including insurance denials and unclear requirements, hindering timely diagnosis and treatment. Addressing these barriers is crucial for improving care for patients with VMs.

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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Published on: January 16, 2019

Area of Science:

Vascular Biology and Genetics
Pediatric Hematology-Oncology
Medical Genetics

Background:

Vascular malformations (VMs) are rare but morbid disorders of vasculogenesis.
Genetic testing is crucial for guiding VM management, but access is often limited.
Understanding barriers to genetic testing is essential for improving patient care.

Purpose of the Study:

To investigate the institutional mechanisms and obstacles encountered when obtaining genetic testing for VMs.
To identify differences in genetic testing access based on vascular anomaly center (VAC) size.

Main Methods:

A survey was distributed to clinicians at 81 vascular anomaly centers (VACs) within the Pediatric Hematology-Oncology Vascular Anomalies Interest Group.
Responses from 55 clinicians (67.9% response rate) were analyzed using descriptive methods.
Requirements for genetic testing from multiple laboratories were also reviewed and stratified by VAC size.

Main Results:

Most respondents (58.2%) order 5–50 genetic tests annually, with a 2- to 10-fold increase in volume over 3 years.
Barriers include lack of administrative support, unclear institutional/insurance/laboratory requirements, and insufficient clinician education.
Prior authorization burdens, insurance denials, and appeals disproportionately affect pediatric hematologist-oncologists (PHOs).
Smaller VACs were more likely to use oncology platforms, potentially missing critical VM variants.

Conclusions:

Significant logistical and administrative barriers impede genetic testing for VMs across VACs of all sizes.
Differences in testing practices and barriers exist based on VAC size.
Interventions are proposed to support clinicians in obtaining genetic testing, which is considered standard of care for VM patients.