October 17, 2023Open Access
Real-world utilization of guideline-directed genetic testing in inherited cardiovascular diseases
Key Result
Guideline-directed genetic testing was profoundly underutilized, with only 1.1% of patients newly diagnosed with inherited cardiovascular conditions receiving testing.
Study Design
Type
Cohort (n=224,641)
Multicenter
Yes
Structured PICO
P
Population
224,641 patients newly diagnosed with inherited cardiovascular conditions (dilated cardiomyopathy [DCM], hypertrophic cardiomyopathy [HCM], long QT syndrome [LQTS], hereditary amyloidosis, or familial hypercholesterolemia [FH]) between January 1, 2017, and December 31, 2021, in the United States.
I
Intervention
Guideline-directed genetic testing
O
Outcome
Evidence of genetic testing within six months of condition diagnosis
Guideline-directed genetic testing is severely underutilized in routine clinical practice for inherited cardiovascular conditions in the United States.
Limitations
- Lack of data on the types of genetic tests ordered
- Percentage of positive genetic test results and pathogenic variants identified not available
- Number of patients who were offered genetic testing but declined is unknown
- No analysis of trend of genetic testing utilization over time
- Family history of genetic conditions may be under-recorded in EHR and claims data
Abstract
Background: Cardiovascular disease continues to be the leading cause of death globally. Clinical practice guidelines aimed at improving disease management and positively impacting major cardiac adverse events recommend genetic testing for inherited cardiovascular conditions such as dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), long QT syndrome (LQTS), hereditary amyloidosis, and familial hypercholesterolemia (FH); however, little is known about how consistently practitioners order genetic testing for these conditions in routine clinical practice. This study aimed to assess the adoption of guideline-directed genetic testing for patients diagnosed with DCM, HCM, LQTS, hereditary amyloidosis, or FH. Methods: This retrospective cohort study captured real-world evidence of genetic testing from ICD-9-CM and ICD-10-CM codes, procedure codes, and structured text fields of de-identified patient records in the Veradigm Health Insights Ambulatory EHR Research Database linked with insurance claims data. Data analysis was conducted using an automated electronic health record analysis engine. Patient records in the Veradigm database were sourced from more than 250,000 clinicians serving over 170 million patients in outpatient primary care and specialty practice settings in the United States and linked insurance claims data from public and private insurance providers. The primary outcome measure was evidence of genetic testing within six months of condition diagnosis. Results: Between January 1, 2017, and December 31, 2021, 224,641 patients were newly diagnosed with DCM, HCM, LQTS, hereditary amyloidosis, or FH and included in this study. Substantial genetic testing care gaps were identified. Only a small percentage of patients newly diagnosed with DCM (827/101,919; 0.8%), HCM (253/15,507; 1.6%), LQTS (650/56,539; 1.2%), hereditary amyloidosis (62/1,026; 6.0%), or FH (718/49,650; 1.5%) received genetic testing. Conclusions: Genetic testing is underutilized across multiple inherited cardiovascular conditions. This real-world data analysis provides insights into the delivery of genomic healthcare in the United States and suggests genetic testing guidelines are rarely followed in practice.