Barriers to Genetic Testing in Vascular Malformations.

ABSTRACT:

Importance

Vascular malformations (VMs) are rare disorders of vasculogenesis associated with substantial morbidity. Improved understanding of their genetic basis is increasingly guiding management, but logistical barriers to obtaining genetic testing in patients with VM may constrain treatment options.

Objectives

To examine the institutional mechanisms for and obstacles to obtaining genetic testing for VM.

Design, setting, and participants

This survey study invited members of the Pediatric Hematology-Oncology Vascular Anomalies Interest Group, representing 81 vascular anomaly centers (VACs) serving individuals up to 18 years of age, to complete an electronic survey. Respondents were mostly pediatric hematologists-oncologists (PHOs) but included geneticists, genetic co

SUBMITTER: Borst AJ 

PROVIDER: S-EPMC10208144 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature