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

Abstract

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.

The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review

“…Mainstreaming is common in oncology settings and has been shown to reduce wait times and decrease costs, 98,[137][138][139] while embedding a GC in an oncology or cardiology clinic increased the number of patients seen and decreased wait times and appointment length. 92,[162][163][164] Having a GC embedded in a cardiology clinic led to better identification and triage of patients for genetic counseling and also led to an increased referral rate for patients with syndromic features for a complete genetics consultation. 163 Additional studies reported on quality improvement, tasksharing between different provider types, or information technology innovations such as automation of processes and online administrative tools.…”

“…92,[162][163][164] Having a GC embedded in a cardiology clinic led to better identification and triage of patients for genetic counseling and also led to an increased referral rate for patients with syndromic features for a complete genetics consultation. 163 Additional studies reported on quality improvement, tasksharing between different provider types, or information technology innovations such as automation of processes and online administrative tools. Some studies streamlined workflow processes or implemented a technical or automated element and then measured impact on capacity by assessing the time saved or impact on patient throughput.…”

Clinical and genetic spectrum of neonatal arrhythmia in a NICU

“…Some types of arrhythmia, such as ventricular flutter and fibrillation, grade III atrioventricular block and long-QT syndrome, are life-threatening. Over previous decades, molecular genetics research has established a link between a number of inherited, lethal cardiac arrhythmias and disease-causing variants in genes encoding ion channels or other membrane components in adults (4)(5)(6)(7). Some studies have reported that neonatal arrhythmias, such as long-QT syndrome, are related to genetic abnormalities (3,6), but the incidence of genetic abnormalities has not been reported for newborns with arrhythmia.…”

Changes in genetic variant results over time in pediatric cardiomyopathy and electrophysiology

“…They interpret genetic information, provide education and counseling, coordinate test logistics, and evaluate genetic test results. Cardiovascular genetic counselors are especially adept at evaluating variants of uncertain significance (Reuter, Grove, Orland, Spoonamore, & Caleshu, 2018) and at identifying eligible family members for additional family genetic screening (Helm et al., 2018).…”