The Genetic Counselor in the Pediatric Arrhythmia Clinic: Review and Assessment of Services

Benjamin M. Helm, Samantha L. Freeze, Katherine G. Spoonamore, Stephanie Ware, Mark D. Ayers, Adam C. Kean

Research output: Contribution to journalArticle

3 Scopus citations


There are minimal data on the impact of genetic counselors in subspecialty clinics, including the pediatric arrhythmia clinic. This study aimed to describe the clinical encounters of a genetic counselor integrated into a pediatric arrhythmia clinic. In the 20 months between July 2015 and February 2017, a total of 1914 scheduled patients were screened for indications relevant for assessment by a genetic counselor. Of these, the genetic counselor completed 276 patient encounters, seeing 14.4% of all patients in clinic. The most expected and common indications for genetic counselor involvement were related to suspicion for primary heritable arrhythmia conditions, though patients seen in this clinic display a wide range of cardiac problems and many additional indications for genetic evaluation were identified. Roughly 75% (211/276) of encounters were for personal history of confirmed/suspected heritable disease, including cardiac channelopathies, cardiomyopathies, ventricular arrhythmias, and congenital heart defects, and 25% (65/276) were for family history of disease, including long QT syndrome and sudden unexplained death. Overall, this study shows that about 1 in 7 patients seen in a pediatric arrhythmia clinic have indications that likely benefit from genetic counselor involvement and care. Similar service delivery models embedding genetic counselors in pediatric arrhythmia clinics should be encouraged, and this model could be emulated to increase patient access to genetic counseling services.

Original languageEnglish (US)
Pages (from-to)1-7
Number of pages7
JournalJournal of Genetic Counseling
StateAccepted/In press - Oct 27 2017


  • Cardiomyopathy
  • Channelopathy
  • Electrophysiology
  • Heritable heart disease
  • Inherited arrhythmias
  • Sudden death

ASJC Scopus subject areas

  • Genetics(clinical)

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