Integrating Genetic Counseling in Cardiology Clinics: From Guidelines to Practice

Graphical abstract

1. The Role of Genetic Counseling According to the Latest Cardiovascular Disease Guidelines and Clinical Consensus Statements

Across the growing body of international guidelines and consensus statements from major cardiology societies, the role of genetic counseling (GC) and genetic counselors has become increasingly well-defined [1, 2, 3, 4, 5]. In recent years, a unified scientific model has emerged in which genetic counseling is designated as a mandatory, structured component of the evaluation and management of inherited cardiovascular conditions, including cardiomyopathies, arrhythmic syndromes, channelopathies, aortopathies, and genetically mediated forms of heart failure. These documents uniformly require pre- and post-test counseling that integrates phenotype-driven test selection, rigorous informed-consent processes, anticipatory guidance regarding the full spectrum of potential molecular findings, and post-analytic interpretation consistent with the American College of Medical Genetics (ACMG)/Association for Molecular Pathology (AMP) standards—particularly the adjudication of variant uncertainty and delineation of genotype-phenotype correlations (Fig. 1). They position counselors as central to coordinated family communication and cascade risk stratification. Together, these documents chart a clear evolution in the field: from recognizing the necessity of genetic counseling to establishing genetic counselors as core clinical partners in the care of inherited cardiovascular disease (CVD) (Table 1) [6, 7, 8, 9, 10].

2. The Implications of Genetic Counseling Integration in Inherited Cardiovascular Disease Clinics

Integrating GC directly into inherited CVD cardiology pathways improves test selection, the clinical interpretation of results, and the identification of at-risk relatives. At the front end, GC-led selection of disease-focused panels - rather than indiscriminate mega-panels, reduces ordering inappropriate tests and the downstream burden of variants of uncertain significance (VUS). Multiple stewardship programs show that review or co-ordering reduces inappropriate or duplicative genetic tests and yields measurable cost savings at the health-system level [11, 12, 13, 14].

Appropriate test selection leads to enhanced clinical utility: in inherited cardiomyopathies and channelopathies, contemporary cohorts consistently report that a meaningful minority of probands harbor clinically explanatory or management-informing variants; approximately two-thirds of positive findings have treatment or surveillance implications (e.g., Implantable Cardioverter-Defibrillator (ICD) timing in LMNA- or FLNC-positive dilated cardiomyopathy (DCM), exercise restriction in arrhythmogenic disease, drug avoidance in channelopathies, and pregnancy counseling). These benefits are better realized when pre- and post-test counseling translate laboratory reports into actionable clinical strategies [1, 15, 16].

Health-economic benefits are described from GC integration in cascade testing, where the counselor coordinates the identification, testing, and follow-up of at-risk relatives. For example, for familial hypercholesterolemia, the U.S. Centers for Disease Control and Prevention classifies cascade screening as a Tier 1 genomic application (implementation-ready). Recent studies show cascade strategies are cost-effective in most jurisdictions, with incremental cost-effectiveness ratios frequently favorable or dominant versus usual care [17]. National guidance (e.g., NICE) similarly endorses DNA-confirmed cascade pathways; success hinges on systematically identifying and engaging relatives [18, 19, 20, 21].

A significant impact is also emerging at the level of patient outcomes. Counselors tailor risk communication to the patient’s level of understanding, cultural background, and family context, ensuring that genomic information translates into comprehension and action. Observational studies in inherited cardiac disease clinics demonstrate greater patient empowerment and more consistent adherence to recommended testing and surveillance [22, 23, 24]. Family communication is best achieved through structured, GC-facilitated tools. For example, a randomized evaluation of a simple booklet (Family Heart Talk) in DCM increased first-degree relative screening with a minimal addition of time spent by clinicians [6, 23, 25].

Furthermore, streamlining of clinical workflows can be enhanced, as counselors educate patients, standardize pre-test documentation (indication, scope, secondary findings, data sharing), harmonize post-test letters with ACMG/AMP terminology, coordinate genetic variant interpretation boards for complex cases, and keep track of important downstream steps [7, 8].

3. From Guidance to Practice: The Steep Path to Implementation

Although GC is predominantly needed in specialized centers for inherited CVD, such centers are not always available or readily accessible. In those settings, it would be meaningful to aim for the integration of GC in non-specialized Cardiology clinics that are likely to be caring for inherited CVD patients. The preferred approach would need to be adjusted to regional practices.

The genetic evaluation of inherited CVD is more complex than the identification of a familial pattern of disease, requiring expert phenotyping and meticulous assessment of the family history to guide test selection, followed by rigorous interpretation of genetic testing results. As a consequence, the implementation of genetic testing has been cited to present challenges involving incorrect or inappropriate testing, errors in analysis, misinterpretations, and problematic VUS follow-up, potentially jeopardizing patient safety [26].

The 2024 EHRA physician survey (357 respondents across 69 countries) assessed real-world integration of genetic testing and counseling for inherited cardiac diseases, and concordance with the 2022 recommendations [9, 27]. It found substantial underuse and variability: 39% reported no or very low annual testing volumes (10 tests/year), with the absence of a genetic counselor in those centers reported as a top reason for not providing or limiting access to genetic testing, preceded only by the unavailability of a dedicated cardiogenetic service. Across all respondents, regular multidisciplinary evaluations of test results were reported at only a suboptimal rate (42%). Overall, the survey highlights heterogeneous access to GC, uneven infrastructure, and incomplete implementation.

These findings indicate that translating cardiovascular genetics guidance into daily practice remains challenging, despite its transformative potential [28, 29]. Experience across health systems shows that implementation succeeds when organizational readiness and clinical culture progress in parallel [30, 31]. When counseling and testing are commissioned within a unified and standardized pathway, adoption substantially increases [30, 31]. Single health care providers by themselves are unlikely to be able to provide expert care, given the genetic and phenotypic heterogeneity among inherited CVD patients, as well as the rapid pace of genetic knowledge. Ideally, a range of expertise is required, in the form of a multidisciplinary team including clinicians, nurses, geneticists, and counsellors [1]. The National Health Service (NHS) Genomic Medicine Service in England exemplifies this approach: national test directories, coordinated laboratory hubs, and defined standards for consent, reporting, and family evaluation have embedded genomics into the daily practice of cardiovascular care. Conversely, fragmented reimbursement and decentralized delivery, as observed in the United States and parts of Europe, continue to constrain the use of testing despite clear professional consensus [9, 28].

Beyond infrastructure, effective implementation depends on how GC is positioned within the cardiology ecosystem. The evidence now makes it clear that counselors can significantly contribute to the clinical scope and effectiveness by assisting cardiologists to integrate genetic information in clinical decision making, towards refining risk stratification, tailoring clinical management and therapy, as well as guiding prevention across families [9, 23, 25, 32, 33]. When these complementary disciplines converge, genetic testing evolves from a technical procedure into a clinically integrated continuum of care. Highly promising steps towards this direction are being made by leading hospitals in the US and the UK. Most recently, the Cleveland Clinic launched a Cardiovascular Genomics Initiative to integrate genomic evaluation and counseling into routine CVD care [34]. Patient-facing programs have matured at a handful of leading centers, including Mayo Clinic’s Cardiovascular Genomics Program, the Stanford Medicine’s Center for Inherited Cardiovascular Disease, the Massachusetts General Hospital’s Cardiovascular Genetics Program, the Brigham and Women’s Heart & Vascular Genetics Program, the Penn Medicine’s Center for Inherited Cardiovascular Disease, as well as the Royal Brompton & Harefield Inherited Cardiovascular Conditions Service [35, 36, 37, 38, 39, 40].

Lasting progress, however, depends on professional evolution. Cardiologists should acquire functional genomic literacy—not to replace the expertise of geneticists, but to understand when and how molecular data informs patient management [29]. The integration of practical genetics into continuing education is therefore essential. AHA scientific statements support a pragmatic tiered competency approach. Basic-level competencies target safe triage and timely referral: clinicians should (i) recognize clinical and family-history “red flags” for inherited cardiovascular disease, (ii) obtain and document an interpretable multigenerational pedigree and key phenotypic features, (iii) explain at a high level the purpose, potential outcomes (pathogenic/likely pathogenic, variant of uncertain significance, negative), and limitations of genetic testing, and (iv) initiate referral to a cardiovascular genetics service/genetic counselor when specialized test selection, consent, or interpretation is required. Advanced-level competencies support direct management of positive reports within a structured service: clinicians should (i) select the most informative testing strategy (targeted familial variant vs phenotype-driven panel vs exome/genome, including CNV needs) and the optimal proband, (ii) interpret pathogenic/likely pathogenic findings in genotype–phenotype context and translate them into evidence-based management and surveillance recommendations, (iii) manage uncertainty responsibly (including VUS handling, segregation studies, and re-analysis/reclassification workflows), and (iv) operationalize family-based care through cascade screening, communication pathways, and coordinated longitudinal follow-up in partnership with GC expertise [5, 41, 42].

Specialized genetic counselors are increasingly needed, with extended training in CVD [33]. Their training should go beyond general genetics to a cardiology-based competency set. Core domains include cardiac phenotyping proficiency (interpreting electrocardiogram/ambulatory findings, echocardiography/cardiac magnetic resonance, vascular imaging, and lipid phenotypes; recognizing age-dependent penetrance and variable expressivity), CVD-focused test strategy (selecting the most informative proband and genetic test), advanced variant interpretation with explicit cardiology consequences and family-centered cascade care capabilities integrating CVD-specific characteristics (e.g., variable age of onset, variable expressivity, reduced penetrance) [43, 44].

Achieving equitable access remains another measure of maturity. Tele-genetic counseling provides a pragmatic approach for patients in remote or resource-limited settings, expanding reach without compromising quality or ethical standards [45].

4. Conclusion

In conclusion, moving from guidance to practice requires more than resources; it demands a shared vision in which cardiologists and genetic counselors join forces in transforming genomic knowledge into clinical precision and lasting benefit for patients and their families. This pivotal transition will not merely embody technological modernization but a fuller realization of cardiovascular medicine – one that is predictive, preventive, and person-centered.

References

[1] Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, et al. Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline. Journal of Cardiac Failure. 2018; 24: 281–302. https://doi.org/10.1016/j.cardfail.2018.03.004.

[2] Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, et al. Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine: Official Journal of the American College of Medical Genetics. 2018; 20: 899–909. https://doi.org/10.1038/s41436-018-0039-z.

[3] Hershberger RE, Lindenfeld J, Mestroni L, Seidman CE, Taylor MRG, Towbin JA, et al. Genetic evaluation of cardiomyopathy–a Heart Failure Society of America practice guideline. Journal of Cardiac Failure. 2009; 15: 83–97. https://doi.org/10.1016/j.cardfail.2009.01.006.

[4] Kitaoka H, Tsutsui H, Kubo T, Ide T, Chikamori T, Fukuda K, et al. JCS/JHFS 2018 Guideline on the Diagnosis and Treatment of Cardiomyopathies. Circulation Journal: Official Journal of the Japanese Circulation Society. 2021; 85: 1590–1689. https://doi.org/10.1253/circj.CJ-20-0910.

[5] Musunuru K, Hershberger RE, Day SM, Klinedinst NJ, Landstrom AP, Parikh VN, et al. Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association. Circulation: Genomic and Precision Medicine. 2020; 13: e000067. https://doi.org/10.1161/HCG.0000000000000067.

[6] Arbelo E, Protonotarios A, Gimeno JR, Arbustini E, Barriales-Villa R, Basso C, et al. 2023 ESC guidelines for the management of cardiomyopathies. European Heart Journal. 2023; 44: 3503–3626. https://doi.org/10.1093/eurheartj/ehad194.

[7] Elliott P, Schunkert H, Bondue A, Behr E, Carrier L, Van Duijn C, et al. Integration of genetic testing into diagnostic pathways for cardiomyopathies: a clinical consensus statement by the ESC Council on Cardiovascular Genomics. European Heart Journal. 2025; 46: 344–353. https://doi.org/10.1093/eurheartj/ehae747.

[8] Ommen SR, Ho CY, Asif IM, Balaji S, Burke MA, Day SM, et al. 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Circulation. 2024; 149: e1239–e1311. https://doi.org/10.1161/CIR.0000000000001250.

[9] Wilde AAM, Semsarian C, Márquez MF, Sepehri Shamloo A, Ackerman MJ, Ashley EA, et al. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases. Heart Rhythm. 2022; 19: e1–e60. https://doi.org/10.1016/j.hrthm.2022.03.1225.

[10] Writing Committee Members, ACC/AHA Joint Committee Members. 2022 AHA/ACC/HFSA Guideline for the Management of Heart Failure. Journal of Cardiac Failure. 2022; 28: e1–e167. https://doi.org/10.1016/j.cardfail.2022.02.010.

[11] Kieke MC, Conta JH, Riley JD, Zetzsche LH. The current landscape of genetic test stewardship: A multi-center prospective study. Journal of Genetic Counseling. 2021; 30: 1203–1210. https://doi.org/10.1002/jgc4.1403.

[12] Mathias PC, Conta JH, Konnick EQ, Sternen DL, Stasi SM, Cole BL, et al. Preventing Genetic Testing Order Errors With a Laboratory Utilization Management Program. American Journal of Clinical Pathology. 2016; 146: 221–226. https://doi.org/10.1093/ajcp/aqw105.

[13] Miller CE, Krautscheid P, Baldwin EE, Tvrdik T, Openshaw AS, Hart K, et al. Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing. American Journal of Medical Genetics. Part a. 2014; 164A: 1094–1101. https://doi.org/10.1002/ajmg.a.36453.

[14] Wakefield E, Keller H, Mianzo H, Nagaraj CB, Tawde S, Ulm E. Reduction of Health Care Costs and Improved Appropriateness of Incoming Test Orders: the Impact of Genetic Counselor Review in an Academic Genetic Testing Laboratory. Journal of Genetic Counseling. 2018; 27: 1067–1073. https://doi.org/10.1007/s10897-018-0226-8.

[15] Goehringer J, Sanoudou D, Morales A. Genetic counseling for cardiovascular disease – part a – pre-test approaches and considerations. In Sanoudou D, Morales A, Goehringer J (eds.) Practical aspects of cardiovascular genetic counseling. InTechOpen: London, UK. 2025.

[16] Sanoudou D, Goehringer J, Morales A. Genetic counseling for cardiovascular disease: Part b – posttest approaches and considerations. In Sanoudou D, Morales A, Goehringer J (eds.) Practical aspects of cardiovascular genetic counseling. InTechOpen: London, UK. 2025.

[17] Harris WR, Hernandez MS, Ngo KNH, Fladger A, Brunette CA, Hamarneh SR, et al. Electronic health records-based algorithms to screen for U.S. Centers for Disease Control and Prevention tier 1 genetic diseases: a scoping review. Journal of the American Medical Informatics Association: JAMIA. 2025; 32: 1629–1637. https://doi.org/10.1093/jamia/ocaf140.

[18] National Institute for Health and Care Excellence (NICE). Familial hypercholesterolaemia: Cascade testing quality standard/guidance. 2025. Available at: https://www.nice.org.uk/guidance/qs41/chapter/Quality-statement-5-Cascade-testing (Accessed: 20 October 2025).

[19] Campbell-Salome G, Jones LK, Masnick MF, Walton NA, Ahmed CD, Buchanan AH, et al. Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis: Identification Methods, Patient Activation, and Cascade Testing for Familial Hypercholesterolemia. Circulation. Genomic and Precision Medicine. 2021; 14: e003120. https://doi.org/10.1161/CIRCGEN.120.003120.

[20] Marquina C, Morton JI, Lloyd M, Abushanab D, Baek Y, Abebe T, et al. Cost-Effectiveness of Screening Strategies for Familial Hypercholesterolaemia: An Updated Systematic Review. PharmacoEconomics. 2024; 42: 373–392. https://doi.org/10.1007/s40273-023-01347-7.

[21] Meng R, Wei Q, Zhou J, Zhang B, Li C, Shen M. A systematic review of cost-effectiveness analysis of different screening strategies for familial hypercholesterolemia. Journal of Clinical Lipidology. 2024; 18: e21–e32. https://doi.org/10.1016/j.jacl.2023.11.001.

[22] Investigators GPP, Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, et al. 100,000 genomes pilot on rare-disease diagnosis in health care - preliminary report. New England Journal of Medicine. 2021; 385: 1868–1880. https://doi.org/10.1056/NEJMoa2035790.

[23] Ison HE, Ware SM, Schwantes-An TH, Freeze S, Elmore L, Spoonamore KG. The impact of cardiovascular genetic counseling on patient empowerment. Journal of genetic counseling. 2019; 28: 570–577. https://doi.org/10.1002/jgc4.1050.

[24] Cirino AL, Harris SL, Murad AM, Hansen B, Malinowski J, Natoli JL, et al. The uptake and utility of genetic testing and genetic counseling for hypertrophic cardiomyopathy-a systematic review and meta-analysis. Journal of Genetic Counseling. 2022; 31: 1290–1305. https://doi.org/10.1002/jgc4.1604.

[25] Kinnamon DD, Jordan E, Haas GJ, Hofmeyer M, Kransdorf E, Ewald GA, et al. Effectiveness of the Family Heart Talk Communication Tool in Improving Family Member Screening for Dilated Cardiomyopathy: Results of a Randomized Trial. Circulation. 2023; 147: 1281–1290. https://doi.org/10.1161/CIRCULATIONAHA.122.062507.

[26] Korngiebel DM, Fullerton SM, Burke W. Patient safety in genomic medicine: an exploratory study. Genetics in Medicine: Official Journal of the American College of Medical Genetics. 2016; 18: 1136–1142. https://doi.org/10.1038/gim.2016.16.

[27] Zeljkovic I, Gauthey A, Manninger M, Malaczynska-Rajpold K, Tfelt-Hansen J, Crotti L, et al. Genetic testing for inherited arrhythmia syndromes and cardiomyopathies: results of the European Heart Rhythm Association survey. Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology: Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology. 2024; 26: euae216. https://doi.org/10.1093/europace/euae216.

[28] Longoni M, Bhasin K, Ward A, Lee D, Nisson M, Bhatt S, et al. Real-world utilization of guideline-directed genetic testing in inherited cardiovascular diseases. Frontiers in Cardiovascular Medicine. 2023; 10: 1272433. https://doi.org/10.3389/fcvm.2023.1272433.

[29] Morales A, Goehringer J, McDonald PL, Sanoudou D. Implementation of genetic testing for heritable cardiac conditions: A scoping review. Genetics in Medicine Open. 2025; 3: 103441. https://doi.org/10.1016/j.gimo.2025.103441.

[30] Orlando LA, Sperber NR, Voils C, Nichols M, Myers RA, Wu RR, et al. Developing a common framework for evaluating the implementation of genomic medicine interventions in clinical care: the IGNITE Network’s Common Measures Working Group. Genetics in Medicine: Official Journal of the American College of Medical Genetics. 2018; 20: 655–663. https://doi.org/10.1038/gim.2017.144.

[31] Sperber NR, Dong OM, Roberts MC, Dexter P, Elsey AR, Ginsburg GS, et al. Strategies to Integrate Genomic Medicine into Clinical Care: Evidence from the IGNITE Network. Journal of Personalized Medicine. 2021; 11: 647. https://doi.org/10.3390/jpm11070647.

[32] Smith E, Thompson PD, Burke-Martindale C, Weissler-Snir A. Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients’ Outcome. Journal of the American Heart Association. 2022; 11: e024501. https://doi.org/10.1161/JAHA.121.024501.

[33] Morales A, Goehringer J, Sanoudou D. Evolving cardiovascular genetic counseling needs in the era of precision medicine. Frontiers in Cardiovascular Medicine. 2023; 10: 1161029. https://doi.org/10.3389/fcvm.2023.1161029.

[34] Cleveland Clinic. Cleveland clinic establishes cardiovascular genomics initiative to advance precision heart care. 2025. Available at: https://newsroom.clevelandclinic.org/2025/10/28/cleveland-clinic-establishes-cardiovascular-genomics-initiative-to-advance-precision-heart-care (Accessed: 15 October 2025).

[35] Mayo Clinic. Cardiovascular genomics program. 2025. Available at: https://www.mayoclinic.org/departments-centers/cardiovascular-genomics-program/overview/ovc-20442075 (Accessed: 15 October 2025).

[36] Brigham and Women’s Hospital. Brigham and women’s hospital, heart and vascular center. 2025. Available at: https://www.brighamandwomens.org/heart-and-vascular-center (Accessed: 15 October 2025).

[37] Massachussets General Hospital. Corrigan Minehan Heart Center Cardiovascular Genetics program. 2025. Available at: https://www.massgeneral.org/heart-center/treatments-and-services/cardiovascular-genetics-program (Accessed: 15 October 2025).

[38] NHS - Royal Brompton and Harefield Hospitals. Inherited Cardiac Conditions (ICC). 2025. Available at: https://www.rbht.nhs.uk/our-services/inherited-cardiovascular-conditions (Accessed: 15 October 2025).

[39] Penn Medicine. Center for inherited cardiovascular disease. 2025. Available at: https://www.pennmedicine.org/specialties/center-inherited-cardiovascular-disease (Accessed: 15 October 2025).

[40] Stanford School of Medicine. Stanford center for inherited cardiovascular disease. 2025. Available at: https://med.stanford.edu/familyheart.html (Accessed: 15 October 2025).

[41] Ganesh SK, Arnett DK, Assimes TL, Basson CT, Chakravarti A, Ellinor PT, et al. Genetics and genomics for the prevention and treatment of cardiovascular disease: update: a scientific statement from the American Heart Association. Circulation. 2013; 128: 2813–2851. https://doi.org/10.1161/01.cir.0000437913.98912.1d.

[42] Mital S, Musunuru K, Garg V, Russell MW, Lanfear DE, Gupta RM, et al. Enhancing literacy in cardiovascular genetics: a scientific statement from the American Heart Association. Circulation: Cardiovascular Genetics. 2016; 9: 448–467. https://doi.org/10.1161/HCG.0000000000000031.

[43] Ahmad F, McNally EM, Ackerman MJ, Baty LC, Day SM, Kullo IJ, et al. Establishment of Specialized Clinical Cardiovascular Genetics Programs: Recognizing the Need and Meeting Standards: A Scientific Statement From the American Heart Association. Circulation: Genomic and Precision Medicine. 2019; 12: e000054. https://doi.org/10.1161/HCG.0000000000000054.

[44] Ingles J, Yeates L, Semsarian C. The emerging role of the cardiac genetic counselor. Heart Rhythm. 2011; 8: 1958–1962.

[45] Farnè M, Fortunato F, Neri M, Farnè M, Balla C, Albamonte E, et al. TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases. European Journal of Medical Genetics. 2023; 66: 104749. https://doi.org/10.1016/j.ejmg.2023.104749.

Funding

General Secretariat for Research and Innovation of Greece Grant PRO-sCAP(TAEDR-0541976)

European Union-Next Generation EU