NYMC Faculty Publications

Effectiveness of the Communication Tool in Improving Family Member Screening for Dilated Cardiomyopathy: Results of a Randomized Trial


Daniel D. Kinnamon, Department of Internal Medicine, Division of Human Genetics (D.D.K., E.J., J.O.M., H.N., R.E.H.), The Ohio State University, Columbus.
Elizabeth Jordan, Department of Internal Medicine, Division of Human Genetics (D.D.K., E.J., J.O.M., H.N., R.E.H.), The Ohio State University, Columbus.
Garrie J. Haas, the Davis Heart and Lung Research Institute (D.D.K., E.J., G.J.H., J.O.M., H.N., R.E.H.), The Ohio State University, Columbus.
Mark Hofmeyer, Medstar Research Institute, Washington Hospital Center, DC (M.H.).
Evan Kransdorf, Smidt Heart Institute, Cedars-Sinai Medical Center, Los Angeles, CA (E.K.).
Gregory A. Ewald, Washington University, St. Louis, MO (G.A.E.).
Alanna A. Morris, Emory University School of Medicine, Atlanta, GA (A.A.M.).
Anjali Owens, Center for Inherited Cardiovascular Disease, Division of Cardiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia (A.O.).
Brian Lowes, University of Nebraska Medical Center, Omaha (B.L., D.S.).
Douglas Stoller, University of Nebraska Medical Center, Omaha (B.L., D.S.).
W H. Tang, Department of Cardiovascular Medicine, Heart, Vascular and Thoracic Institute, Cleveland Clinic, OH (W.H.W.T.).
Sonia Garg, University of Texas Southwestern Medical Center, Dallas (S.G.).
Barry H. Trachtenberg, Houston Methodist DeBakey Heart and Vascular Center, J.C. Walter Jr. Transplant Center, TX (B.H.T.).
Palak Shah, Inova Heart and Vascular Institute, Falls Church, VA (P.S.).
Salpy V. Pamboukian, University of Alabama, Birmingham (S.V.P.).
Nancy K. Sweitzer, Now with University of Washington, Seattle. Sarver Heart Center, University of Arizona, Tucson (N.K.S.).
Matthew T. Wheeler, Now with Division of Cardiology, Washington University, St. Louis, MO. Division of Cardiovascular Medicine, Stanford University School of Medicine, CA (M.T.W.).
Jane E. Wilcox, Northwestern University Feinberg School of Medicine, Chicago, IL (J.E.W.).
Stuart Katz, New York University Langone Medical Center, NY (S.K.).
Stephen Pan, Department of Cardiology, Westchester Medical Center & New York Medical College, Valhalla, NY (S.P.).
Javier Jimenez, Miami Cardiac & Vascular Institute, Baptist Health South, FL (J.J.).
Keith D. Aaronson, University of Michigan Medical Center, Ann Arbor (K.D.A.).
Daniel P. Fishbein, University of Washington, Seattle (D.P.F.).
Frank Smart, Louisiana State University Health Sciences Center, New Orleans (F.S.).
Jessica Wang, University of California, Los Angeles Medical Center (J.W.).
Stephen S. Gottlieb, University of Maryland School of Medicine, Baltimore (S.S.G.).
Daniel P. Judge, Medical University of South Carolina, Charleston (D.P.J.).
Charles K. Moore, University of Mississippi Medical Center, Jackson (C.K.M.).
Jonathan O. Mead, Department of Internal Medicine, Division of Human Genetics (D.D.K., E.J., J.O.M., H.N., R.E.H.), The Ohio State University, Columbus.
Gordon S. Huggins, Cardiology Division, Tufts Medical Center and Tufts University School of Medicine, Boston, MA (G.S.H.).
Hanyu Ni, Department of Internal Medicine, Division of Human Genetics (D.D.K., E.J., J.O.M., H.N., R.E.H.), The Ohio State University, Columbus.
Wylie Burke, Department of Bioethics and Humanities, University of Washington, Seattle (W.B.).

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BACKGROUND: Managing disease risk among first-degree relatives of probands diagnosed with a heritable disease is central to precision medicine. A critical component is often clinical screening, which is particularly important for conditions like dilated cardiomyopathy (DCM) that remain asymptomatic until severe disease develops. Nonetheless, probands are frequently ill-equipped to disseminate genetic risk information that motivates at-risk relatives to complete recommended clinical screening. An easily implemented remedy for this key issue has been elusive. METHODS: The DCM Precision Medicine Study developed , a booklet designed to help probands with DCM communicate genetic risk and the need for cardiovascular screening to their relatives. The effectiveness of the booklet in increasing cardiovascular clinical screening uptake among first-degree relatives was assessed in a multicenter, open-label, cluster-randomized, controlled trial. The primary outcome measured in eligible first-degree relatives was completion of screening initiated within 12 months after proband enrollment. Because probands randomized to the intervention received the booklet at the enrollment visit, eligible first-degree relatives were limited to those who were alive the day after proband enrollment and not enrolled on the same day as the proband. RESULTS: Between June 2016 and March 2020, 1241 probands were randomized (1:1) to receive (n=621) or not (n=620) within strata defined by site and self-identified race/ethnicity (non-Hispanic Black, non-Hispanic White, or Hispanic). Final analyses included 550 families (n=2230 eligible first-degree relatives) in the arm and 561 (n=2416) in the control arm. A higher percentage of eligible first-degree relatives completed screening in the arm (19.5% versus 16.0%), and the odds of screening completion among these first-degree relatives were higher in the arm after adjustment for proband randomization stratum, sex, and age quartile (odds ratio, 1.30 [1-sided 95% CI, 1.08-∞]). A prespecified subgroup analysis did not find evidence of heterogeneity in the adjusted intervention odds ratio across race/ethnicity strata (=0.90). CONCLUSIONS: , a booklet that can be provided to patients with DCM by clinicians with minimal additional time investment, was effective in increasing cardiovascular clinical screening among first-degree relatives of these patients. REGISTRATION: URL: https://www. CLINICALTRIALS: gov; Unique identifier: NCT03037632.