2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Self-Reported Genetic Testing Behaviors for Physicians Treating Pediatric Patients with Seizures of Unknown Etiology

Pdf Summary

A study presented at the American College of Medical Genetics Annual Clinical Genetics Meeting explored the barriers to genetic testing among pediatric physicians treating patients with seizures of unknown etiology. The study found that for almost one-third of children with unprovoked seizures who do not receive genetic testing, non-clinical barriers discourage their physicians from offering testing. <br /><br />The study administered a survey to 30 physicians, including pediatric neurologists, neurologists, and pediatricians, who had at least five years of clinical experience. The physicians conducted a retrospective chart review for 2-5 patients who had not yet received genetic testing. The majority of patients (57%) had not been offered genetic testing, and for 33% of patients who were offered testing, it was not completed due to non-clinical reasons such as cost and insurance denial. <br /><br />The study also found that anticipated barriers played a significant role in physicians not offering genetic testing to their patients. Of the patients who had not been offered testing or whose physicians were unsure, 48% were not offered testing because their clinical presentation and family history were not suggestive of a genetic condition, while 32% were not offered testing due to anticipated barriers. <br /><br />Reducing barriers to genetic testing requires a comprehensive approach, including education on existing practice guidelines, payer coverage of the guidelines, and culturally-appropriate support for patients to address health literacy and help them complete the required steps in the genetic testing process. <br /><br />Overall, the study highlights the importance of addressing non-clinical barriers and improving access to genetic testing for children with seizures of unknown etiology.

Asset Subtitle

Presenting Author - Taryn Arthur, MA; Co-Author - Kyle Davis, CGC, CMPP; Co-Author - Rachel Ritter, MS; Co-Author - Donnielle Rome-Martin, MS, OTR/L; Co-Author - Elizabeth Rountree;

Meta Tag

Genetic Testing

Public Patient and Professional Education

Co-Author Kyle Davis, CGC, CMPP

Co-Author Rachel Ritter, MS

Co-Author Donnielle Rome-Martin, MS, OTR/L

Co-Author Elizabeth Rountree

Presenting Author Taryn Arthur, MA

Keywords

genetic testing

pediatric physicians

seizures

unknown etiology

barriers

non-clinical barriers

survey

retrospective chart review

cost

insurance denial