Implementing Precision Medicine for Dilated Cardiomyopathy: Insights from The DCM Consortium
Year: 2024
Type: preprint
Study design: Observational Study
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.
Source: medRxiv
Authors: Elizabeth Jordan, Hanyu Ni, Patricia Parker, Daniel D. Kinnamon, Anjali Owens, Brian Lowes, Chetan Shenoy, Cindy M. Martin, Daniel P. Judge, Daniel P. Fishbein, Douglas Stoller, Elina Minami, Evan Kransdorf, Frank Smart, Garrie J. Haas, Gordon S. Huggins, Gregory A. Ewald, Jamie Diamond, Jane E. Wilcox, Javier Jimenez, Jessica Wang, Jose Tallaj, Mark H. Drazner, Mark Hofmeyer, Matthew T. Wheeler, Omar Wever Pinzon, Palak Shah, Stephen S. Gottlieb, Stuart Katz, Supriya Shore, W. H. Wilson Tang, Ray E. Hershberger
Institutions: The Ohio State University Wexner Medical Center, The Ohio State University, University of Pennsylvania, University of Nebraska Medical Center, University of Minnesota, Houston Methodist, Medical University of South Carolina, University of Washington, University of Washington Medical Center, Cedars-Sinai Medical Center, Cedars-Sinai Smidt Heart Institute, Louisiana State University Health Sciences Center New Orleans, Tufts University, Tufts Medical Center, Washington University in St. Louis, Emory University, Northwestern University, Baptist Health South Florida, University of California, Los Angeles, Los Angeles Medical Center, University of Alabama at Birmingham, The University of Texas Southwestern Medical Center, MedStar Washington Hospital Center, MedStar Heart & Vascular Institute, MedStar Health Research Institute, Stanford Medicine, Stanford University, University of Utah, Inova Health System, University of Maryland, Baltimore, University of Maryland, College Park, NYU Langone Health, New York University, University of Michigan, Michigan Medicine, Cleveland Clinic
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: green
Award: G3074821597
OpenAlex ID: W4404730762