Introduction
Cardiovascular disease (CVD) is the leading cause of death globally. It is a complex disease caused by behavioral, environmental, and genetic risk factors — and yet, despite recommendations to test patients for genetic predispositions to CVD, this is very uncommon in routine clinical practice. At best, the adoption of genetic testing in routine clinical practices around the country remains sporadic.
Understanding how, why, and where genetic testing is being used can provide insights, not only into the clinical state of patients at the time they receive their test or diagnosis, but also throughout their continuum of care — allowing for prospective assessment of clinical outcomes. Generating real-world evidence (RWE) around testing will also help us to identify patient groups, practice settings, and geographic locations with gaps in care and unmet medical needs.
Mapping the current landscape of genetic testing
Clint analyzed the current landscape of genetic testing for select inherited cardiovascular conditions by analyzing the EHR and claims data of a large patient population with incident disease. We looked at data from over 250,000 clinicians and more than 170 million patients, with the aim to understand the extent to which guideline-directed genetic testing is being integrated into the management of patients diagnosed with dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), long QT syndrome (LQTS), hereditary amyloidosis, and familial hypercholesterolemia (FH).
The findings are telling: a mere fraction of patients newly diagnosed with conditions like DCM, HCM, and LQTS received genetic testing within six months of their diagnosis, highlighting a significant care gap in the management of inherited cardiovascular diseases.
Missed opportunities for better patient care
This underutilization not only underscores a disconnect between clinical guidelines and practice but also points to missed opportunities for better patient care. This disconnect raises questions about the barriers to the integration of genetic testing into routine care. Is it a lack of awareness and training among healthcare providers, or are there systemic obstacles such as insurance coverage and reimbursement policies, or perhaps a combination of both?
Addressing gaps in cardiovascular care
The importance of genetic testing in the context of cardiovascular disease cannot be overstated. It goes beyond diagnosing and managing patients to include risk stratification, refining prognoses, and guiding the selection of more targeted therapeutics. It's also a critical tool in identifying at-risk relatives, offering a chance to alter the course of the disease within families. Addressing these gaps will require a multifaceted approach. We are hosting a roundtable discussion on strategies for general cardiologists to expand adoption of genetic testing to explore how healthcare systems, providers, payers, medical societies, and industry can work together to encourage its use in clinical practice.
Conclusion
The potential of genetic testing to revolutionize patient care is immense, paving a path to more personalized and effective treatment strategies. The journey will not be easy, but the benefits it promises for patient care and the advancement of cardiovascular health are too significant to ignore.
Read our full publication and findings in Frontiers in Cardiovascular Medicine.
Authored by
Cassandra Broadwin, MPH, Rajesh Dash, MD,
