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[Preprint]. 2024 Nov 26:2024.11.22.24317816.

doi: 10.1101/2024.11.22.24317816.

Implementing Precision Medicine for Dilated Cardiomyopathy: Insights from The DCM Consortium

Elizabeth Jordan^{1

2}, Hanyu Ni^{1

2}, Patricia Parker^{1

2}, Daniel D Kinnamon^{1

2}, Anjali Owens³, Brian Lowes⁴, Chetan Shenoy⁵, Cindy M Martin⁶, Daniel P Judge⁷, Daniel P Fishbein⁸, Douglas Stoller⁴, Elina Minami⁸, Evan Kransdorf⁹, Frank Smart¹⁰, Garrie J Haas^{1

11}, Gordon S Huggins¹², Gregory A Ewald¹³, Jamie Diamond¹⁴, Jane E Wilcox¹⁵, Javier Jimenez¹⁶, Jessica Wang¹⁷, Jose Tallaj¹⁸, Mark H Drazner¹⁹, Mark Hofmeyer²⁰, Matthew T Wheeler²¹, Omar Wever Pinzon²², Palak Shah²³, Stephen S Gottlieb²⁴, Stuart Katz²⁵, Supriya Shore²⁶, W H Wilson Tang²⁷, Ray E Hershberger^{1

2

11}; DCM Precision Medicine study of the DCM Consortium

Affiliations

¹ The Davis Heart and Lung Research Institute, The Ohio State University, Columbus, OH.
² Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, OH.
³ Center for Inherited Cardiovascular Disease, Division of Cardiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
⁴ University of Nebraska Medical Center, Omaha, NE.
⁵ University of Minnesota; Charleston, SC.
⁶ Houston Methodist Hospital; Charleston, SC.
⁷ Medical University of South Carolina, Charleston, SC.
⁸ University of Washington; Los Angeles, CA.
⁹ Smidt Heart Institute, Cedars-Sinai Medical Center, Los Angeles, CA.
¹⁰ Louisiana State University Health Sciences Center, New Orleans, LA.
¹¹ Division of Cardiovascular Medicine, Department of Internal Medicine, The Ohio State University, Columbus, OH.
¹² Cardiology Division, Tufts Medical Center and Tufts University School of Medicine, Boston, MA.
¹³ Washington University, St. Louis, MO.
¹⁴ Emory University Healthcare; Chicago, IL.
¹⁵ Northwestern University Feinberg School of Medicine, Chicago, IL.
¹⁶ Miami Cardiac & Vascular Institute, Baptist Health South, Miami, FL.
¹⁷ University of California Los Angeles Medical Center, Los Angeles, CA.
¹⁸ University of Alabama at Birmingham; Washington, DC.
¹⁹ University of Texas Southwestern Medical Center; Washington, DC.
²⁰ MedStar Health Research Institute, Medstar Washington Hospital Center, Washington, DC.
²¹ Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA.
²² University of Utah; Falls Church, VA.
²³ Inova Schar Heart and Vascular, Falls Church, VA.
²⁴ University of Maryland School of Medicine, Baltimore, MD.
²⁵ New York University Langone Medical Center, New York, NY.
²⁶ Michigan Medicine; Cleveland, OH.
²⁷ Heart Vascular and Thoracic Institute, Cleveland Clinic, Cleveland, OH.

PMID: 39649582
PMCID: PMC11623749
DOI: 10.1101/2024.11.22.24317816

Implementing Precision Medicine for Dilated Cardiomyopathy: Insights from The DCM Consortium

Elizabeth Jordan et al. medRxiv. 2024.

[Preprint]. 2024 Nov 26:2024.11.22.24317816.

doi: 10.1101/2024.11.22.24317816.

Authors

Affiliations

¹ The Davis Heart and Lung Research Institute, The Ohio State University, Columbus, OH.
² Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, OH.
³ Center for Inherited Cardiovascular Disease, Division of Cardiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
⁴ University of Nebraska Medical Center, Omaha, NE.
⁵ University of Minnesota; Charleston, SC.
⁶ Houston Methodist Hospital; Charleston, SC.
⁷ Medical University of South Carolina, Charleston, SC.
⁸ University of Washington; Los Angeles, CA.
⁹ Smidt Heart Institute, Cedars-Sinai Medical Center, Los Angeles, CA.
¹⁰ Louisiana State University Health Sciences Center, New Orleans, LA.
¹¹ Division of Cardiovascular Medicine, Department of Internal Medicine, The Ohio State University, Columbus, OH.
¹² Cardiology Division, Tufts Medical Center and Tufts University School of Medicine, Boston, MA.
¹³ Washington University, St. Louis, MO.
¹⁴ Emory University Healthcare; Chicago, IL.
¹⁵ Northwestern University Feinberg School of Medicine, Chicago, IL.
¹⁶ Miami Cardiac & Vascular Institute, Baptist Health South, Miami, FL.
¹⁷ University of California Los Angeles Medical Center, Los Angeles, CA.
¹⁸ University of Alabama at Birmingham; Washington, DC.
¹⁹ University of Texas Southwestern Medical Center; Washington, DC.
²⁰ MedStar Health Research Institute, Medstar Washington Hospital Center, Washington, DC.
²¹ Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA.
²² University of Utah; Falls Church, VA.
²³ Inova Schar Heart and Vascular, Falls Church, VA.
²⁴ University of Maryland School of Medicine, Baltimore, MD.
²⁵ New York University Langone Medical Center, New York, NY.
²⁶ Michigan Medicine; Cleveland, OH.
²⁷ Heart Vascular and Thoracic Institute, Cleveland Clinic, Cleveland, OH.

PMID: 39649582
PMCID: PMC11623749
DOI: 10.1101/2024.11.22.24317816

Update in

Implementing Precision Medicine for Dilated Cardiomyopathy: Insights From the DCM Consortium.
Jordan E, Ni H, Parker P, Kinnamon DD, Owens A, Lowes B, Shenoy C, Martin CM, Judge DP, Fishbein DP, Stoller D, Minami E, Kransdorf EP, Smart F, Haas GJ, Huggins GS, Ewald GA, Diamond J, Wilcox JE, Jimenez J, Wang J, Tallaj J, Drazner MH, Hofmeyer M, Wheeler MT, Wever Pinzon O, Shah P, Gottlieb SS, Katz SD, Shore S, Tang WHW, Hershberger RE; DCM Consortium. Jordan E, et al. Circ Genom Precis Med. 2025 Aug;18(4):e005078. doi: 10.1161/CIRCGEN.125.005078. Epub 2025 Jun 18. Circ Genom Precis Med. 2025. PMID: 40528765

Abstract

Background: Clinical genetic evaluation of dilated cardiomyopathy (DCM) is implemented variably or not at all. Identifying needs and barriers to genetic evaluations will enable strategies to enhance precision medicine care.

Methods: An online survey was conducted in June 2024 among cardiologist investigators of the DCM Consortium from US advanced heart failure/transplant (HF/TX) programs to collect demographics, training, program characteristics, genetic evaluation practices for DCM, and implementation needs. An in-person discussion followed.

Results: Twenty-five cardiologists (28% female, 12% Hispanic, 68% White) participated in the survey and 15 in the discussion; genetics training backgrounds varied greatly. Clinical genetic testing for DCM was conducted by all programs with annual uptake ranging from 5%-70% (median 25%). Thirteen respondents (52%) did not use selection criteria for testing whereas others selected patients based on specific clinical and family history data. Eight (32%) ordered testing by themselves, and the remainder had testing managed mostly by a genetic counselor or others with genetic expertise (16/17; 94%). Six themes were distilled from open-ended responses regarding thoughts for the future and included access to genetics services, navigating uncertainty, knowledge needs, cost concerns, family-based care barriers, and institutional infrastructure limitations. Following an in-person discussion, four areas were identified for focused effort: improved reimbursement for genetic services, genetic counselor integration with HF/TX teams, improved provider education resources, and more research to find missing heritability and to resolve uncertain results.

Conclusions: HF/TX programs have implementation challenges in the provision of DCM genetic evaluations; targeted plans to facilitate precision medicine for DCM are needed.

Keywords: DCM; Precision medicine; genetic evaluation.

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Figures

**Figure 1.. Institutions of the DCM Consortium Site Principal Investigators who participated in the study survey.**
The map shows the geographic reach of the DCM Consortium.

**Figure 2.. Estimated annual percentage of patients with dilated cardiomyopathy receiving genetic testing at each program.**
The approximate percentage of DCM patients estimated to receive genetic testing per year at the DCM Consortium sites of the participating investigators as provided in Section B, Question 1 of the survey (Appendix 1).

**Figure 3.. Focused efforts will work synergistically to enhance precision medicine care for dilated cardiomyopathy.**
This figure summarizes insights of the participating investigators. Resolving reimbursement challenges was considered a top priority. Increased utilization of clinical genetics will enhance implementation opportunities. CV = Cardiovascular; GC = Genetic Counselor; HF = heart failure. ^aGenetic services include genetic testing and genetic counseling.

See this image and copyright information in PMC

References

1. Martin SS, Aday AW, Almarzooq ZI, Anderson CAM, Arora P, Avery CL, Baker-Smith CM, Barone Gibbs B, Beaton AZ, Boehme AK, et al. 2024 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association. Circulation. 2024;149:e347–e913. doi: 10.1161/CIR.0000000000001209 - DOI - PMC - PubMed
1. Hershberger RE, Hedges DJ, Morales A. Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat Rev Cardiol. 2013;10:531–547. doi: 10.1038/nrcardio.2013.105 - DOI - PubMed
1. Wilde AAM, Semsarian C, Marquez MF, Sepehri Shamloo A, Ackerman MJ, Ashley EA, Sternick EB, Barajas-Martinez H, Behr ER, Bezzina CR, 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. doi: 10.1016/j.hrthm.2022.03.1225 - DOI - PubMed
1. Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM. Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline. J Card Fail. 2018;24:281–302. doi: 10.1016/j.cardfail.2018.03.004 - DOI - PMC - PubMed
1. Musunuru K, Hershberger RE, Day SM, Klinedinst NJ, Landstrom AP, Parikh VN, Prakash S, Semsarian C, Sturm AC, American Heart Association Council on G, et al. Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association. Circ Genom Precis Med. 2020;13:e000067. doi: 10.1161/HCG.0000000000000067 - DOI - PubMed

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This is a preprint.

Implementing Precision Medicine for Dilated Cardiomyopathy: Insights from The DCM Consortium

Affiliations

Implementing Precision Medicine for Dilated Cardiomyopathy: Insights from The DCM Consortium

Authors

Affiliations

Update in

Abstract

Figures

References

Publication types

Grants and funding

LinkOut - more resources

Full Text Sources

Medical

Research Materials

Miscellaneous