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

Abstract

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 Family Heart Talk , a booklet designed to help probands with DCM communicate genetic risk and the need for cardiovascular screening to their relatives. The effectiveness of the Family Heart Talk 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 Family Heart Talk (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 Family Heart Talk arm and 561 (n=2416) in the control arm. A higher percentage of eligible first-degree relatives completed screening in the Family Heart Talk arm (19.5% versus 16.0%), and the odds of screening completion among these first-degree relatives were higher in the Family Heart Talk 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 ( P =0.90). Conclusions: Family Heart Talk , 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.

The DCM Project Portal: A direct-to-participant platform of The DCM Research Project

“…It has been observed across families with shared genetic disease risk that information sharing can be selective [ [28] , [29] , [30] ] and several barriers to communicating about genetic risk information have been described in families, including emotional, geographic, health literacy, self-efficacy, guilt, and others, all of which can make recruitment of a family unit, rather than an individual patient, more challenging [ 28 , 29 ]. Incomplete participation of family members at risk for genetic cardiovascular disease has been observed by The DCM Research Project [ 10 ] and others [ 31 , 32 ]. Offering multiple modalities, including non-web-based options, and simple processes to engage one's family has the potential to help bypass communication barriers and improve participation of family units.…”

“…The aims of the DCM Precision Medicine study were to test the hypothesis that DCM has substantial genetic basis and to evaluate the effectiveness of a family communication intervention in improving the uptake of family member clinical screening [ 7 , 8 ]. Data from family units has been critical to the emerging findings from the Precision Medicine study [ 6 , 9 , 10 ], but despite these initial informative reports and others from this study [ 11 , 12 ], many questions remain. To continue to decipher the complexity of DCM genetics, an essential step toward advancing preventive and therapeutic approaches to genetic DCM, participation of a much larger number of families from diverse backgrounds is needed [ [13] , [14] , [15] ].…”

Rare Variant Genetics and Dilated Cardiomyopathy Severity: The DCM Precision Medicine Study

“…The patients who participated were not selected on the basis of availability of previously obtained genetic testing findings or an established history of familial DCM; rather, site principal investigators were requested to enroll a diverse sample of patients with DCM across the disease spectrum and widely representative of all patients seen at heart failure and cardiac transplantation programs to test the general hypothesis that most DCM cases have a genetic basis. Also, because this was a randomized study for the return of genetic results, 17 most patients enrolled had not had previous genetic testing. These conditions taken together suggest that this cohort may be representative of most patients seen at US advanced heart failure programs.…”

“…The DCM Precision Medicine Study aimed to test the hypothesis that DCM has a substantial genetic basis and to evaluate the effectiveness of a family communication intervention in improving the uptake of family member clinical screening. 16,17…”

Genetic Evaluation and Screening in Cardiomyopathies: Opportunities and Challenges for Personalized Medicine

“…Precision medicine relies on managing disease risk among first-degree relatives of probands with a heritable disease; therefore, interventions to improve clinical screening are needed to improve outcomes. The DCM PM conducted a randomized controlled trial (RCT) to test the effectiveness of an educational booklet intervention, Family Heart Talk , for improving the uptake of preventive screening and surveillance in at-risk first-degree relatives [ 36 , 39 ]. Several sub-studies have been performed with the DCM PM cohort.…”