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

Implementing Precision Medicine for Dilated Cardiomyopathy: Insights from The DCM Consortium | medRxiv /* */ /* */ <!-- <!-- /*! * yepnope1.5.4 * (c) WTFPL, GPLv2 */ (function(a,b,c){function d(a){return"[object Function]"==o.call(a)}function e(a){return"string"==typeof a}function f(){}function g(a){return!a||"loaded"==a||"complete"==a||"uninitialized"==a}function h(){var a=p.shift();q=1,a?a.t?m(function(){("c"==a.t?B.injectCss:B.injectJs)(a.s,0,a.a,a.x,a.e,1)},0):(a(),h()):q=0}function i(a,c,d,e,f,i,j){function k(b){if(!o&&g(l.readyState)&&(u.r=o=1,!q&&h(),l.onload=l.onreadystatechange=null,b)){"img"!=a&&m(function(){t.removeChild(l)},50);for(var d in y[c])y[c].hasOwnProperty(d)&&y[c][d].onload()}}var j=j||B.errorTimeout,l=b.createElement(a),o=0,r=0,u={t:d,s:c,e:f,a:i,x:j};1===y[c]&&(r=1,y[c]=[]),"object"==a?l.data=c:(l.src=c,l.type=a),l.width=l.height="0",l.onerror=l.onload=l.onreadystatechange=function(){k.call(this,r)},p.splice(e,0,u),"img"!=a&&(r||2===y[c]?(t.insertBefore(l,s?null:n),m(k,j)):y[c].push(l))}function j(a,b,c,d,f){return q=0,b=b||"j",e(a)?i("c"==b?v:u,a,b,this.i++,c,d,f):(p.splice(this.i++,0,a),1==p.length&&h()),this}function k(){var a=B;return a.loader={load:j,i:0},a}var l=b.documentElement,m=a.setTimeout,n=b.getElementsByTagName("script")[0],o={}.toString,p=[],q=0,r="MozAppearance"in l.style,s=r&&!!b.createRange().compareNode,t=s?l:n.parentNode,l=a.opera&&"[object Opera]"==o.call(a.opera),l=!!b.attachEvent&&!l,u=r?"object":l?"script":"img",v=l?"script":u,w=Array.isArray||function(a){return"[object Array]"==o.call(a)},x=[],y={},z={timeout:function(a,b){return b.length&&(a.timeout=b[0]),a}},A,B;B=function(a){function b(a){var a=a.split("!"),b=x.length,c=a.pop(),d=a.length,c={url:c,origUrl:c,prefixes:a},e,f,g;for(f=0;f<d;f++)g=a[f].split("="),(e=z[g.shift()])&&(c=e(c,g));for(f=0;f<b;f++)c=x[f](c);return c}function g(a,e,f,g,h){var i=b(a),j=i.autoCallback;i.url.split(".").pop().split("?").shift(),i.bypass||(e&&(e=d(e)?e:e[a]||e[g]||e[a.split("/").pop().split("?")[0]]),i.instead?i.instead(a,e,f,g,h):(y[i.url]?i.noexec=!0:y[i.url]=1,f.load(i.url,i.forceCSS||!i.forceJS&&"css"==i.url.split(".").pop().split("?").shift()?"c":c,i.noexec,i.attrs,i.timeout),(d(e)||d(j))&&f.load(function(){k(),e&&e(i.origUrl,h,g),j&&j(i.origUrl,h,g),y[i.url]=2})))}function h(a,b){function c(a,c){if(a){if(e(a))c||(j=function(){var a=[].slice.call(arguments);k.apply(this,a),l()}),g(a,j,b,0,h);else if(Object(a)===a)for(n in m=function(){var b=0,c;for(c in a)a.hasOwnProperty(c)&&b++;return b}(),a)a.hasOwnProperty(n)&&(!c&&!--m&&(d(j)?j=function(){var a=[].slice.call(arguments);k.apply(this,a),l()}:j[n]=function(a){return function(){var b=[].slice.call(arguments);a&&a.apply(this,b),l()}}(k[n])),g(a[n],j,b,n,h))}else!c&&l()}var h=!!a.test,i=a.load||a.both,j=a.callback||f,k=j,l=a.complete||f,m,n;c(h?a.yep:a.nope,!!i),i&&c(i)}var i,j,l=this.yepnope.loader;if(e(a))g(a,0,l,0);else if(w(a))for(i=0;i (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0];var j=d.createElement(s);var dl=l!='dataLayer'?'&l='+l:'';j.src='//www.googletagmanager.com/gtm.js?id='+i+dl;j.type='text/javascript';j.async=true;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-P4HH5NV'); Skip to main content Home About Submit ALERTS / RSS Search for this keyword Advanced Search Implementing Precision Medicine for Dilated Cardiomyopathy: Insights from The DCM Consortium View ORCID Profile Elizabeth Jordan , View ORCID Profile Hanyu Ni , View ORCID Profile Patricia Parker , View ORCID Profile Daniel D. Kinnamon , View ORCID Profile Anjali Owens , View ORCID Profile Brian Lowes , View ORCID Profile Chetan Shenoy , Cindy M. Martin , View ORCID Profile Daniel P. Judge , Daniel P. Fishbein , View ORCID Profile Douglas Stoller , Elina Minami , View ORCID Profile Evan Kransdorf , View ORCID Profile Frank Smart , View ORCID Profile Garrie J. Haas , View ORCID Profile Gordon S. Huggins , Gregory A. Ewald , View ORCID Profile Jamie Diamond , Jane E. Wilcox , View ORCID Profile Javier Jimenez , View ORCID Profile Jessica Wang , Jose Tallaj , View ORCID Profile Mark H. Drazner , View ORCID Profile Mark Hofmeyer , View ORCID Profile Matthew T. Wheeler , View ORCID Profile Omar Wever Pinzon , View ORCID Profile Palak Shah , View ORCID Profile Stephen S. Gottlieb , View ORCID Profile Stuart Katz , View ORCID Profile Supriya Shore , View ORCID Profile W. H. Wilson Tang , View ORCID Profile Ray E. Hershberger , DCM Precision Medicine study of the DCM Consortium doi: https://doi.org/10.1101/2024.11.22.24317816 Elizabeth Jordan 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 MS Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for Elizabeth Jordan Hanyu Ni 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 PhD MPH Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for Hanyu Ni Patricia Parker 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 MS Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for Patricia Parker Daniel D. Kinnamon 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 PhD Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for Daniel D. Kinnamon Anjali Owens 3 Center for Inherited Cardiovascular Disease, Division of Cardiology, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA MD Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for Anjali Owens Brian Lowes 4 University of Nebraska Medical Center , Omaha, NE MD Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for Brian Lowes Chetan Shenoy 5 University of Minnesota MD Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for Chetan Shenoy Cindy M. Martin 6 Houston Methodist Hospital MD Find this author on Google Scholar Find this author on PubMed Search for this author on this site Daniel P. Judge 7 Medical University of South Carolina , Charleston, SC MD Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for Daniel P. Judge Daniel P. Fishbein 8 University of Washington MD Find this author on Google Scholar Find this author on PubMed Search for this author on this site Douglas Stoller 4 University of Nebraska Medical Center , Omaha, NE MD PhD Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for Douglas Stoller Elina Minami 8 University of Washington MD Find this author on Google Scholar Find this author on PubMed Search for this author on this site Evan Kransdorf 9 Smidt Heart Institute, Cedars-Sinai Medical Center , Los Angeles, CA MD, PhD Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for Evan Kransdorf Frank Smart 10 Louisiana State University Health Sciences Center , New Orleans, LA MD Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for Frank Smart Garrie J. Haas 1 The Davis Heart and Lung Research Institute, The Ohio State University , Columbus, OH 11 Division of Cardiovascular Medicine, Department of Internal Medicine, The Ohio State University , Columbus, OH MD Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for Garrie J. Haas Gordon S. Huggins 12 Cardiology Division, Tufts Medical Center and Tufts University School of Medicine , Boston, MA MD Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for Gordon S. Huggins Gregory A. Ewald 13 Washington University , St. Louis, MO MD Find this author on Google Scholar Find this author on PubMed Search for this author on this site Jamie Diamond 14 Emory University Healthcare MD Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for Jamie Diamond Jane E. Wilcox 15 Northwestern University Feinberg School of Medicine , Chicago, IL MD Find this author on Google Scholar Find this author on PubMed Search for this author on this site Javier Jimenez 16 Miami Cardiac & Vascular Institute , Baptist Health South, Miami, FL MD PhD Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for Javier Jimenez Jessica Wang 17 University of California Los Angeles Medical Center , Los Angeles, CA MD Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for Jessica Wang Jose Tallaj 18 University of Alabama at Birmingham MD Find this author on Google Scholar Find this author on PubMed Search for this author on this site Mark H. Drazner 19 University of Texas Southwestern Medical Center MD MSc Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for Mark H. Drazner Mark Hofmeyer 20 MedStar Health Research Institute, Medstar Washington Hospital Center , Washington, DC MD Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for Mark Hofmeyer Matthew T. Wheeler 21 Division of Cardiovascular Medicine, Stanford University School of Medicine , Stanford, CA MD PhD Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for Matthew T. Wheeler Omar Wever Pinzon 22 University of Utah MD Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for Omar Wever Pinzon Palak Shah 23 Inova Schar Heart and Vascular , Falls Church, VA MD, MS Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for Palak Shah Stephen S. Gottlieb 24 University of Maryland School of Medicine , Baltimore, MD MD Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for Stephen S. Gottlieb Stuart Katz 25 New York University Langone Medical Center , New York, NY MD Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for Stuart Katz Supriya Shore 26 Michigan Medicine MD Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for Supriya Shore W. H. Wilson Tang 27 Heart Vascular and Thoracic Institute, Cleveland Clinic , Cleveland, OH MD Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for W. H. Wilson Tang Ray E. Hershberger 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 11 Division of Cardiovascular Medicine, Department of Internal Medicine, The Ohio State University , Columbus, OH MD Find this author on Google Scholar Find this author on PubMed Search for this author on this site ORCID record for Ray E. Hershberger For correspondence: Ray.Hershberger{at}osumc.edu Abstract Full Text Info/History Metrics Data/Code Preview PDF 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. INTRODUCTION Dilated cardiomyopathy (DCM), a leading cause of heart failure (HF) and cardiac transplantation in the United States, has an estimated prevalence of 1:250 individuals. 1 , 2 Considerable progress has been made to understand the genetic basis of DCM, and from this a consensus has emerged that clinical genetics should be considered as a core component of the evaluation of DCM patients (probands) and their family members. 3 – 5 The clinical and genetic evaluation process for DCM, a practice of precision medicine for DCM, presents abundant opportunity to elevate the quality of care. 6 – 9 A comprehensive expert clinical and genetic evaluation is the first step to the implementation of precision medicine for the prevention, management, and consideration of emerging treatments for DCM, including gene- and phenotype-directed therapies. 10 – 15 Despite the promise of precision medicine for DCM, the real-world delivery of genetics services for DCM remains highly variable, and in most cases is not done. While commercial laboratories offer cardiomyopathy genetic testing panels, precision medicine care exceeds performing only a genetic test, requiring a broader guideline-recommended 3 – 5 approach termed a genetic evaluation : the combination of rigorous phenotyping, genetic counseling, genetic testing, expert genetic and cardiovascular interpretation with patient-specific educational and psychological support for the family. 4 , 16 – 19 While optimal genetic evaluation models have been proposed 4 , 19 – 21 the implementation of recommended precision care in DCM has not been rigorously evaluated. A recent study from the Veredigm database of real world data from over 170 million patients showed that fewer than 1% of DCM patients currently receive genetic testing. 22 The reasons for this gap in DCM genetic care have been minimally explored. In familial hypercholesterolemia (FH), a Centers of Disease Control Tier 1 condition, 23 documented barriers to genetic testing have included lack of provider knowledge of guidelines, limited access to counseling services, and billing concerns. 24 , 25 Similar themes of knowledge gaps and workforce deficits in addition to operational challenges were also reported in a systematic review inclusive of multiple genetic conditions. 26 In order to plan initiatives to increase implementation of precision medicine in DCM, an understanding of current care models and practice barriers are needed. The NHLBI-funded DCM Precision Medicine Study consented 1265 DCM probands and 1781 of their first-degree relatives at clinical sites of the DCM Consortium comprised of leading academic advanced HF/heart transplant (TX) programs across the US. 17 The study results have emphasized the importance of a family-based genetic evaluation for DCM for both probands and their at-risk family members. 27 – 30 In part to seek insight into addressing the above issues, DCM Consortium site principal investigators sought to identify current barriers to performing genetic evaluations for probands with DCM and their families. A needs assessment survey and a stakeholder discussion were conducted to understand current models and barriers to genetic evaluation at the Summer Scientific Symposium of the DCM Consortium in July 2024. Themes from the survey and discussion guided the selection of areas for focused efforts to enhance precision medicine care for DCM. METHODS Current practices and needs required to implement precision medicine in DCM were assessed by an electronic questionnaire completed by co-authors who were current site principal investigators of the DCM Consortium. An in-person discussion followed. Complete methods can be found in Supplemental Material. Access to the data from this assessment can be made upon reasonable request. RESULTS Characteristics of participants and their institutions Of 25 participating cardiologists, 28% were female, 12% Hispanic, and 68% White ( Table 1 ). Twenty-four of the 25 cardiologists were HF/TX specialists; one other, a general cardiologist, provided data from their HF/TX program physicians. Clinical cardiovascular training experience varied widely: twelve specified no clinical genetics training, seven had worked ≥ 5 sessions with a GC, three had ≥ 5 sessions with a GC plus a national bootcamp or a > 1 month genetics rotation during training, one had national bootcamp training only, one had 3 years training experience in a cardiovascular genetics clinic, and one had > 1 year of clinical genetics training. View this table: View inline View popup Table 1. Demographic Characteristics and Training Experiences of DCM Consortium site investigator survey participants. The majority (76%) of participant’s institutions ( Figure 1 ) had > 10 HF/TX cardiologists; 32% had > 10 advanced practice providers (APPs). The annual new patient volumes in inpatient and outpatient settings were >250 for 21.7% and 27.3% of institutions, respectively. The DCM probands treated at participating institutions had diverse race and ethnicity backgrounds ( Table 2 ). Download figure Open in new tab 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. View this table: View inline View popup Table 2. Institutional characteristics and annual patient volumes at programs of investigator survey participants. DCM genetic evaluation practices All indicated that genetic evaluations or testing are conducted at their institutions ( Table 3 ). The estimated annual percentage of DCM probands receiving genetic testing at each program ranged from 5%-70% (average of 26%; Figure 2 ). Half responded that they did not have selection criteria for DCM patients for genetic evaluation or testing. The remainder based decisions on clinical or family history factors, with the highest ranked clinical criterion as younger age of onset, and highest ranked family history criterion as the presence of multi-generational first- or second-degree relatives with history of DCM or sudden cardiac death ( Table 4 ). Download figure Open in new tab 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). View this table: View inline View popup Table 3. Genetic evaluation and testing practices of investigators at sites of The DCM Consortium. View this table: View inline View popup Download powerpoint Table 4. Top 5 criteria used by participating investigators to select patients for genetic testing based clinical and family history data. Eight participants (32%) conducted genetic evaluations themselves. Of those that have other team members to assist (n=17), 94% reported that the genetic evaluation was usually conducted by GCs or others with genetic expertise ( Table 3 ). Genetic testing insurance authorizations were mostly handled by GCs (40%) followed by administrative assistants or clinical staff (28%). Two-thirds of the programs provided pretest counseling, either by GCs, themselves, or a nurse. All institutions returned results to patients, with multiple approaches of in person or phone call or letter. Forty-eight percent had a process to review genetic results, with most common approaches including collaborative review along with GCs, geneticists, and/or cardiologists. Implications for at-risk relatives were provided by all programs and most also offered family screening. Challenges in conducting a DCM genetic evaluation Themes regarding major issues and barriers to conducting a genetic evaluation for DCM were identified in the open-ended responses from Section Three (“Thoughts for the Future”) of the questionnaire (Appendix 1). Six common themes emerged (Table S1). In order from most to least commonly cited, themes included lack of access to genetics services (including counseling and testing; n=11 comments), operational and institutional infrastructure limitations (including variable physician uptake, referral coordination, lack of financial/personnel support; n=10), cost concerns (reimbursement of genetic testing and counseling services; n=9), physician education needs (keeping up with the changing knowledge and educating patients on genetic risk; n=7), challenges of family-based care (encouraging family communication, eliciting family history; n=6), and difficulty managing genetic uncertainty (n=5) (Appendix 2; Table S1). Areas to focus efforts for future enhancement of precision medicine care in DCM Four key focus areas for future efforts targeted to improve implementation of a clinical genetic evaluation in DCM were distilled from the themes from the open-ended questionnaire responses regarding “Thoughts for the Future” and the transcription of the in-person discussion (Supplemental Material). Focus Area 1: Improve reimbursement for genetics services for cardiomyopathy Reimbursement issues were two-fold, including genetic testing and genetic counseling services, with limited and inconsistent payor coverage for both. This was of considerable concern, with one investigator explaining that “ The biggest barrier to DCM genetics is the capacity to have genetic testing covered by insurance and the ease to figure out coverage issues. Many of the patients are unable to pay out of pocket for testing and also providers have avoided ordering genetic testing due to challenges figuring out coverage feasibility. ” Only a minority of payors have had coverage policies for genetic testing for the indication of cardiomyopathy. Many laboratories now conduct disease-specific tests on an exome or genome backbone but, rather than billing for the true cost of the test, labs have often implemented billing structures designed to meet payor demands. 31 , 32 Intermittent pharma-sponsored testing programs have provided temporary relief to remove cost barriers, however avoidance of addressing the lack of reimbursement mechanisms has contributed to unsustainable billing models and limited growth in the field. 31 The testing landscape continues to evolve, with first-tier cardiomyopathy genetic testing moving toward clinical genome, 33 however appropriate utilization will be key to maximizing cost effectiveness. Genetic counseling services also have been poorly reimbursed, if at all, which has limited hiring in clinical care settings. As shown in a recent downstream revenue analysis in pediatric cardiovascular disease, 34 GCs have contributed to financial success of their institution through reimbursements from downstream family genetic testing, clinical screening, and subsequent ongoing care needs resulting from a genetic evaluation. Beyond cardiovascular disease including cardiomyopathy, 34 , 35 this has also been demonstrated in hereditary cancer evaluations. 36 To directly address the issue of GC service reimbursement, a clear need to engage in advocacy at the national level for payor recognition for GC services was a strong sentiment raised in the symposium discussion. Cost concerns will remain a barrier to realizing precision medicine care until the importance of genetic services is recognized by payors, including the Centers for Medicare and Medicaid Services (CMS). 37 Focus Area 2: Integrate cardiovascular genetic counselors into the heart failure team Genetic counselors facilitate genetic testing, help patients understand and adapt to medical, psychological, and familial implications of genetic disease, and coordinate family-based follow up. The American Heart Association endorses GCs as vital members of the cardiovascular care team and supports policies that promote access to GCs for all patients and their families with cardiovascular indications. 38 For over a decade, GCs have been acknowledged as a key part of the multidisciplinary cardiovascular team 3 , 4 , 19 , 21 , 38 , 39 yet access to genetics services was the most common theme among implementation issues (Table S1). One participant rated limited GC support as a “ major issue” stating, “ We do not have the bandwidth currently from a [genetic counselor] standpoint to provide counseling and testing for all DCM patients who are being seen in our [heart failure/transplant/ventricular assist device] clinics.” Beyond the eight centers where the HF/TX physician performed genetic evaluations themselves, GCs or other genetics professionals were typically the ones who facilitated this service. In addition to counseling and testing, a GC integrated into the HF/TX team can mitigate challenges with others aspects of the evaluation, including navigating insurance issues, providing education and support, and facilitating family follow up. 35 , 40 Some participants shared that their institutions had GCs, but they were administratively placed in non-cardiovascular service areas such as obstetrics or oncology and already had full clinical loads, making it impractical to meet the needs of the HF/TX team. Accordingly, a need for a GC specifically dedicated to the cardiovascular specialty was discussed as the optimal arrangement. As shown in a national cardiovascular case series, when a GC was integrated directly into a cardiology practice, improvements were seen in applying the most appropriate testing strategy and in the accuracy of result interpretation for management purposes. 19 The GC is also an institutional resource for novel genetic service delivery models. This could include adapting the traditional outpatient model to increase throughput with involvement of APPs in addition to developing workflows beyond the outpatient setting, 41 with substantial DCM inpatient volumes reported at consortium sites. This is particularly relevant to DCM where advanced stage disease has been associated with P/LP genetic backgrounds. 30 Existing inpatient models at DCM Consortium sites and a need for in-house genetic testing services to facilitate inpatient genetic evaluation were emphasized in participant comments and discussion (Table S1). Although guidelines and professional societies have recommended genetic counseling as a part of the genetic evaluation for cardiomyopathy, integration of GCs into cardiovascular care has remained suboptimal. In contrast, there has been greater utilization of clinical genetic evaluation for heritable cancer risk, with the National Comprehensive Cancer Network requiring genetic services for several primary tumor types and/or early diagnoses. 42 Further, to acquire accreditation as a quality oncology care facility, provision of appropriate genetics services must be demonstrated. 43 Heart failure centers lack similar requirements, potentially limiting the prioritization of resources to routinely implement genetic evaluation for DCM in the HF community. Focus Area 3: Provide DCM genetics and genomics education resources for heart failure providers A broad range of education needs was reported, from aiming to simply stay current with the evolving genomics landscape to explaining genetic risk information to patients. These explanations were described as particularly vexing for those surrounding genetic uncertainty, with participants summarizing that “ a complex VUS is not something that most cardiologists are comfortable with communicating or handling ” and how this challenge was deepened by “ poor literacy in some patients. ” An explicit request for “ formalizing training/support for cardiac genetics for HF providers ” was suggested in order keep pace with continued progress in DCM clinical genetics. The reported educational concerns were consistent with a prior survey of 131 cardiology and electrophysiology practitioners that found that more than half of providers were not confident about genetic testing options available or how to order tests. 44 Topics sought by nearly all of the providers were translational in nature, such as how to perform a genetic risk assessment and understanding guideline-based management recommendations. 44 The content required to provide this practical information will continue to evolve, particularly as genome sequencing becomes more accessible, introducing the need to more routinely manage secondary and incidental findings, evaluate test quality, and manage evolving billing and reimbursement structures. Reported physician knowledge gaps were commonly rooted in managing clinical genetic uncertainty. With about half of DCM patients having VUSs reported at testing, 29 and many genes of uncertain significance having only limited evidence included on cardiomyopathy panels, 45 clinicians are often faced with inconclusive information for which the implications are unknown. An interview series of 29 cardiologists reflected how uncertainty disrupts the diagnostic process. 46 Some have argued that smaller, phenotype-targeted panels with only high evidence genes are favorable in order to reduce the interaction with uncertain results. However, a more sustainable approach may be to build a multi-disciplinary team with clinical genetics expertise for both physicians and HF APPs to remain knowledgeable of the continuously changing genomics landscape. With successful integration of GCs into the HF team (Focus Area 2), this will directly facilitate the cited educational requests, as GCs are able to support and provide expertise for not only patients but also partner providers ( Figure 3 ). Download figure Open in new tab 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. a Genetic services include genetic testing and genetic counseling. Focus Area 4: Research to elucidate unknown cause and clarify genetic uncertainty in cardiomyopathy “The challenge of handling VUSs is a substantial problem. ” Genetic uncertainty was among the most common themes related to challenges for the future implementation of precision medicine in DCM. This barrier was not misplaced, as substantial genetic complexity for DCM remains. 2 , 47 Illustrating this, low rates of actionable P/LP results (estimated 8.2-32.6%) and high rates of VUS (28.3-49.3%) were observed in the Precision Medicine study, with the odds of a P/LP variant in probands with at least one rare variant observed at an estimated 75% lower odds among those of African genomic ancestry compared with those of European ancestry. 29 Resolution of this discrepancy in identification of actionable genetic results will be required to improve opportunities for care for all. Until resolved, the clinical management of uncertain genetic findings will continue to be a barrier to future implementation of gene specific therapy where well-informed assessment of variant pathogenicity and defining molecular mechanisms will be critical. As one participant stated, there is a “ need [for] more research to determine variants…or genes that contribute to missing heritability of DCM. ” Additional unidentified variants in non-coding regions or undiscovered genes may be at play, as well as mechanisms that exceed the monogenic paradigm, including oligogenic and polygenic effects and/or contribution from other modifying factors. 47 Addressing the uncertainty problem is not only an issue of clinical and scientific relevance, but also an issue of equity, as the current picture of DCM genetics has largely been derived from studies of European ancestry, contributing to a currently incomplete picture of DCM genetic architecture. 29 Large-scale, family-based studies of diverse populations will be required to elucidate currently unsolved cause for all. DISCUSSION This report has provided a contemporary assessment of current precision medicine practice for DCM by cardiologists at advanced HF/TX programs at DCM Consortium sites across the United States. The participating investigators estimated that on average about a quarter of DCM patients were offered genetic testing at DCM Consortium sites, a much higher rate than the <1% uptake estimated for US providers for all of heritable cardiovascular disesase. 22 This higher rate of clinical genetics practice provided experience and insight to identify barriers and opportunities for DCM precision medicine. While the full potential of precision medicine care for DCM has yet to be realized, DCM Consortium investigators recognized that integrating clinical genetics into DCM care will enhance precision medicine opportunities, with one participant aspiring that “ Genetic testing should become mainstream as the expertise in the area grows and new therapies become available.” Accordingly, the collective insight revealed in this assessment may be helpful to plan efforts to more fully integrate genetic evaluations into HF/TX practice. The multiple challenges summarized by investigators will require broadly-based actions to address financial, personnel, educational, and investigative needs, as described in the four Focus Areas distilled from this needs assessment. Strategic efforts focused in the proposed areas can work synergistically to enhance precision medicine care for DCM ( Figure 3 ). However, other stakeholders beyond HF/TX cardiologists will need to be engaged, including laboratory personnel, payors, legislators, healthcare administrators, and genetic counselors. With collaboration of these key groups, current barriers to implementing precision medicine for DCM are surmountable and, assuming success, will enable hope for a future of improved therapeutic and prevention strategies for HF in DCM probands and their families. STRENGTHS AND LIMITATIONS Strengths of this assessment include the multi-center involvement of geographically dispersed HF programs and the combined quantitative and qualitative questions that provided authentic perspectives on current practices from key physician stakeholders. Limitations include the small sample size from selected advanced HF/TX clinics and that data regarding each program was represented by one physician from each institution, affecting generalizability. In addition, the data were self-reported by individual providers engaged in the field of DCM genetics as investigators in the DCM Consortium, which may represent more advanced genetic evaluation practices relative to others. However, the experience of the participating cardiologists provides direct insight to identify barriers to implementing clinical genetics and precision medicine care, which can be instructive for the broader HF community. Data Availability Data from this manuscript can be shared upon reasonable request. Funding Research reported in this publication was supported by a parent award from the National Heart, Lung, And Blood Institute of the National Institutes of Health (NIH) under Award Number R01HL128857, which included a supplement from the National Human Genome Research Institute. Disclosure The authors declare that they have no disclosures relevant for this work. 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 OpenUrl CrossRef PubMed 2. ↵ 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 OpenUrl CrossRef PubMed 3. ↵ 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 OpenUrl CrossRef PubMed 4. ↵ 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 OpenUrl CrossRef PubMed 5. ↵ 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 OpenUrl CrossRef PubMed 6. ↵ Fatkin D , Calkins H , Elliott P , James CA , Peters S , Kovacic JC . Contemporary and Future Approaches to Precision Medicine in Inherited Cardiomyopathies: JACC Focus Seminar 3/5 . J Am Coll Cardiol . 2021 ; 77 : 2551 – 2572 . doi: 10.1016/j.jacc.2020.12.072 OpenUrl CrossRef PubMed 7. Dainis AM , Ashley EA . Cardiovascular Precision Medicine in the Genomics Era . JACC Basic Transl Sci . 2018 ; 3 : 313 – 326 . doi: 10.1016/j.jacbts.2018.01.003 OpenUrl Abstract / FREE Full Text 8. van der Meulen MH , Herkert JC , den Boer SL , du Marchie Sarvaas GJ , Blom NA , Ten Harkel ADJ , Breur H , Rammeloo LAJ , Tanke RB , Marcelis C , et al. Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification . Circ Genom Precis Med . 2022 ; 15 : e002981 . doi: 10.1161/CIRCGEN.120.002981 OpenUrl CrossRef PubMed 9. ↵ Tayal U , Verdonschot JAJ , Hazebroek MR , Howard J , Gregson J , Newsome S , Gulati A , Pua CJ , Halliday BP , Lota AS , et al. Precision Phenotyping of Dilated Cardiomyopathy Using Multidimensional Data . J Am Coll Cardiol . 2022 ; 79 : 2219 – 2232 . doi: 10.1016/j.jacc.2022.03.375 OpenUrl CrossRef PubMed 10. ↵ Heidenreich PA , Bozkurt B , Aguilar D , Allen LA , Byun JJ , Colvin MM , Deswal A , Drazner MH , Dunlay SM , Evers LR , et al. 2022 AHA/ACC/HFSA Guideline for the Management of Heart Failure: Executive Summary: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines . J Am Coll Cardiol . 2022; 79 : 1757 – 1780 . doi: 10.1016/j.jacc.2021.12.011 OpenUrl CrossRef PubMed 11. Helms AS , Thompson AD , Day SM . Translation of New and Emerging Therapies for Genetic Cardiomyopathies . JACC Basic Transl Sci . 2022 ; 7 : 70 – 83 . doi: 10.1016/j.jacbts.2021.07.012 OpenUrl CrossRef PubMed 12. Gramlich M , Pane LS , Zhou Q , Chen Z , Murgia M , Schotterl S , Goedel A , Metzger K , Brade T , Parrotta E , et al. Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy . EMBO Mol Med . 2015 ; 7 : 562 – 576 . doi: 10.15252/emmm.201505047 OpenUrl Abstract / FREE Full Text 13. Malik FI , Hartman JJ , Elias KA , Morgan BP , Rodriguez H , Brejc K , Anderson RL , Sueoka SH , Lee KH , Finer JT , et al. Cardiac myosin activation: a potential therapeutic approach for systolic heart failure . Science . 2011 ; 331 : 1439 – 1443 . doi: 331/6023/1439 [pii] 10.1126/science.1200113 OpenUrl Abstract / FREE Full Text 14. Yeoh T , Hayward C , Benson V , Sheu A , Richmond Z , Feneley MP , Keogh AM , Macdonald P , Fatkin D . A randomised, placebo-controlled trial of carvedilol in early familial dilated cardiomyopathy . Heart Lung Circ . 2011 ; 20 : 566 – 573 . doi: 10.1016/j.hlc.2011.06.004 OpenUrl CrossRef PubMed 15. ↵ Zakrzewska-Koperska J , Franaszczyk M , Bilinska Z , Truszkowska G , Karczmarz M , Szumowski L , Zielinski T , Ploski R , Bilinska M . Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report . BMC Med Genet . 2018 ; 19 : 94 . doi: 10.1186/s12881-018-0599-4 OpenUrl CrossRef PubMed 16. ↵ Verdonschot JAJ , Merken JJ , Brunner-La Rocca HP , Hazebroek MR , Eurlings C , Thijssen E , Wang P , Weerts J , van Empel V , Schummers G , et al. Value of Speckle Tracking-Based Deformation Analysis in Screening Relatives of Patients With Asymptomatic Dilated Cardiomyopathy . JACC Cardiovasc Imaging . 2020 ; 13 : 549 – 558 . doi: 10.1016/j.jcmg.2019.02.032 OpenUrl Abstract / FREE Full Text 17. ↵ Haas GJ , Zareba KM , Ni H , Bello-Pardo E , Huggins GS , Hershberger RE . Validating an Idiopathic Dilated Cardiomyopathy Diagnosis Using Cardiovascular Magnetic Resonance: The Dilated Cardiomyopathy Precision Medicine Study . Circ Heart Fail . 2022 ; 15 : e008877 . doi: 10.1161/CIRCHEARTFAILURE.121.008877 OpenUrl CrossRef PubMed 18. Aatre RD , Day SM . Psychological issues in genetic testing for inherited cardiovascular diseases . Circ Cardiovasc Genet . 2011 ; 4 : 81 – 90 . doi: 10.1161/CIRCGENETICS.110.957365 OpenUrl FREE Full Text 19. ↵ Arscott P , Caleshu C , Kotzer K , Kreykes S , Kruisselbrink T , Orland K , Rigelsky C , Smith E , Spoonamore K , Larsen Haidle J , et al. A Case for Inclusion of Genetic Counselors in Cardiac Care . Cardiol Rev . 2016 ; 24 : 49 – 55 . doi: 10.1097/CRD.0000000000000081 OpenUrl CrossRef PubMed 20. Somers AE , Ware SM , Collins K , Jefferies JL , He H , Miller EM . Provision of cardiovascular genetic counseling services: current practice and future directions . J Genet Couns . 2014 ; 23 : 976 – 983 . doi: 10.1007/s10897-014-9719-2 OpenUrl CrossRef PubMed 21. ↵ Ingles J , Yeates L , Semsarian C . The emerging role of the cardiac genetic counselor . Heart Rhythm . 2011 ; 8 : 1958 – 1962 . doi: 10.1016/j.hrthm.2011.07.017 OpenUrl CrossRef PubMed Web of Science 22. ↵ Longoni M , Bhasin K , Ward A , Lee D , Nisson M , Bhatt S , Rodriguez F , Dash R . Real-world utilization of guideline-directed genetic testing in inherited cardiovascular diseases . Front Cardiovasc Med . 2023 ; 10 : 1272433 . doi: 10.3389/fcvm.2023.1272433 OpenUrl CrossRef PubMed 23. ↵ CDC . Centers for Disease Control and Prevention: Heart Disease, Family Health History, and Familial Hypercholesterolemia . https://www.cdc.gov/heart-disease-family-history/testing/index.html . 2024 . Accessed October 8, 2024 . 24. ↵ Hendricks-Sturrup RM , Mazor KM , Sturm AC , Lu CY . Barriers and Facilitators to Genetic Testing for Familial Hypercholesterolemia in the United States: A Review . J Pers Med . 2019 ; 9 . doi: 10.3390/jpm9030032 OpenUrl CrossRef 25. ↵ Alonso R , Perez de Isla L , Muniz-Grijalvo O , Mata P . Barriers to Early Diagnosis and Treatment of Familial Hypercholesterolemia: Current Perspectives on Improving Patient Care . Vasc Health Risk Manag . 2020 ; 16 : 11 – 25 . doi: 10.2147/VHRM.S192401 OpenUrl CrossRef PubMed 26. ↵ Delikurt T , Williamson GR , Anastasiadou V , Skirton H . A systematic review of factors that act as barriers to patient referral to genetic services . Eur J Hum Genet . 2015 ; 23 : 739 – 745 . doi: 10.1038/ejhg.2014.180 OpenUrl CrossRef PubMed 27. ↵ Huggins GS , Kinnamon DD , Haas GJ , Jordan E , Hofmeyer M , Kransdorf E , Ewald GA , Morris AA , Owens A , Lowes B , et al. Prevalence and Cumulative Risk of Familial Idiopathic Dilated Cardiomyopathy . JAMA . 2022 ; 327 : 454 – 463 . doi: 10.1001/jama.2021.24674 OpenUrl CrossRef PubMed 28. Ni H , Jordan E , Kinnamon DD , Cao J , Haas GJ , Hofmeyer M , Kransdorf E , Ewald GA , Morris AA , Owens A , et al. Screening for Dilated Cardiomyopathy in At-Risk First-Degree Relatives . J Am Coll Cardiol . 2023 ; 81 : 2059 – 2071 . doi: 10.1016/j.jacc.2023.03.419 OpenUrl CrossRef PubMed 29. ↵ Jordan E , Kinnamon DD , Haas GJ , Hofmeyer M , Kransdorf E , Ewald GA , Morris AA , Owens A , Lowes B , Stoller D , et al. Genetic Architecture of Dilated Cardiomyopathy in Individuals of African and European Ancestry . JAMA . 2023 ; 330 : 432 – 441 . doi: 10.1001/jama.2023.11970 OpenUrl CrossRef PubMed 30. ↵ Hofmeyer M , Haas GJ , Jordan E , Cao J , Kransdorf E , Ewald GA , Morris AA , Owens A , Lowes B , Stoller D , et al. Rare Variant Genetics and Dilated Cardiomyopathy Severity: The DCM Precision Medicine Study . Circulation . 2023 ; 148 : 872 – 881 . doi: 10.1161/CIRCULATIONAHA.123.064847 OpenUrl CrossRef PubMed 31. ↵ Walton NA , Christensen GB . Paving a pathway for large-scale utilization of genomics in precision medicine and population health . Front Sociol . 2023 ; 8 : 1122488 . doi: 10.3389/fsoc.2023.1122488 OpenUrl CrossRef PubMed 32. ↵ Raspa M , Moultrie R , Toth D , Haque SN . Barriers and Facilitators to Genetic Service Delivery Models: Scoping Review . Interact J Med Res . 2021 ; 10 : e23523 . doi: 10.2196/23523 OpenUrl CrossRef 33. ↵ Golbus JR , Puckelwartz MJ , Dellefave-Castillo L , Fahrenbach JP , Nelakuditi V , Pesce LL , Pytel P , McNally EM . Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy . Circ Cardiovasc Genet . 2014 ; 7 : 751 – 759 . doi: 10.1161/CIRCGENETICS.113.000578 OpenUrl Abstract / FREE Full Text 34. ↵ Olson M , Anderson J , Knapke S , Kushner A , Martin L , Statile C , Shikany A , Miller EM . Cardiac genetic counseling services: Exploring downstream revenue in a pediatric medical center . J Genet Couns . 2024 . doi: 10.1002/jgc4.1984 OpenUrl CrossRef 35. ↵ Miller EM , Wang Y , Ware SM . Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families . J Genet Couns . 2013 ; 22 : 258 – 267 . doi: 10.1007/s10897-012-9544-4 OpenUrl CrossRef PubMed 36. ↵ Tuffaha HW , Mitchell A , Ward RL , Connelly L , Butler JRG , Norris S , Scuffham PA . Cost-effectiveness analysis of germ-line BRCA testing in women with breast cancer and cascade testing in family members of mutation carriers . Genet Med . 2018 ; 20 : 985 – 994 . doi: 10.1038/gim.2017.231 OpenUrl CrossRef PubMed 37. ↵ Campbell C . Precision Medicine Hinges On Access To Genetic Counselors . Health Affairs Forefront . 2024 ; 40 : 1 – 5 . doi: 10.1377/forefront.20241018.271264 OpenUrl CrossRef 38. ↵ American Heart Association Advocacy Coordinating Committee . Genetic Counselors: Improving Access to Their Services for Patients with Cardiovascualr Disease and Their Families: A Policy Statement by the American Heart Association. Advocacy Department . www.heart.org/-/media/Files/About-Us/Policy-Research/Policy-Positions/Clinical-Care/Genetic-Counselors-Improving-Access.pdf . 2020 . Accessed November 18, 2024 . 39. ↵ Ahmad F , McNally EM , Ackerman MJ , Baty LC , Day SM , Kullo IJ , Madueme PC , Maron MS , Martinez MW , Salberg L , et al. Establishment of Specialized Clinical Cardiovascular Genetics Programs: Recognizing the Need and Meeting Standards: A Scientific Statement From the American Heart Association . Circ Genom Precis Med . 2019 ; 12 : e000054 . doi: 10.1161/HCG.0000000000000054 OpenUrl CrossRef 40. ↵ Kinnamon DD , Jordan E , Haas GJ , Hofmeyer M , Kransdorf E , Ewald GA , Morris AA , Owens A , Lowes B , Stoller D , 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 . doi: 10.1161/CIRCULATIONAHA.122.062507 OpenUrl CrossRef PubMed 41. ↵ Magness E , Magoulas P , Moscarello T , Ma D , Helm BM , Mizerik E . Characterization of genetic counselor practices in inpatient care settings . J Genet Couns . 2021 ; 30 : 1181 – 1190 . doi: 10.1002/jgc4.1401 OpenUrl CrossRef PubMed 42. ↵ Daly MB , Pal T , Maxwell KN , Churpek J , Kohlmann W , AlHilli Z , Arun B , Buys SS , Cheng H , Domchek SM , et al. NCCN Guidelines(R) Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024 . J Natl Compr Canc Netw . 2023 ; 21 : 1000 – 1010 . doi: 10.6004/jnccn.2023.0051 OpenUrl CrossRef PubMed 43. ↵ American College of Surgeons . Optimal Resources for Cancer Care (2020 Standards) . https://www.facs.org/quality-programs/cancer-programs/commission-on-cancer/standards-and-resources/2020/ . 2020 . Accessed November 18, 2024 . 44. ↵ Lopez Santibanez Jacome L , Dellefave-Castillo LM , Wicklund CA , Scherr CL , Duquette D , Webster G , Smith ME , Kalke K , Gordon AS , De Berg K , et al. Practitioners’ Confidence and Desires for Education in Cardiovascular and Sudden Cardiac Death Genetics . J Am Heart Assoc . 2022 ; 11 : e023763 . doi: 10.1161/JAHA.121.023763 OpenUrl CrossRef PubMed 45. ↵ Jordan E , Peterson L , Ai T , Asatryan B , Bronicki L , Brown E , Celeghin R , Edwards M , Fan J , Ingles J , et al. Evidence-Based Assessment of Genes in Dilated Cardiomyopathy . Circulation . 2021 ; 144 : 7 – 19 . doi: 10.1161/CIRCULATIONAHA.120.053033 OpenUrl CrossRef PubMed 46. ↵ Kaufman R , Schupmann W , Timmermans S , Raz A . High risk, mixed reward: Making genetic test results actionable in cardiology . Soc Sci Med . 2024 ; 354 : 117049 . doi: 10.1016/j.socscimed.2024.117049 OpenUrl CrossRef PubMed 47. ↵ Hershberger RE , Cowan J , Jordan E , Kinnamon DD . The Complex and Diverse Genetic Architecture of Dilated Cardiomyopathy . Circ Res . 2021 ; 128 : 1514 – 1532 . doi: 10.1161/CIRCRESAHA.121.318157 OpenUrl CrossRef PubMed View the discussion thread. Back to top Previous Next Posted November 26, 2024. Download PDF Data/Code Email Thank you for your interest in spreading the word about medRxiv. NOTE: Your email address is requested solely to identify you as the sender of this article. Your Email * Your Name * Send To * Enter multiple addresses on separate lines or separate them with commas. You are going to email the following Implementing Precision Medicine for Dilated Cardiomyopathy: Insights from The DCM Consortium Message Subject (Your Name) has forwarded a page to you from medRxiv Message Body (Your Name) thought you would like to see this page from the medRxiv website. Your Personal Message CAPTCHA This question is for testing whether or not you are a human visitor and to prevent automated spam submissions. Share Implementing Precision Medicine for Dilated Cardiomyopathy: Insights from The DCM Consortium 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 , DCM Precision Medicine study of the DCM Consortium medRxiv 2024.11.22.24317816; doi: https://doi.org/10.1101/2024.11.22.24317816 Share This Article: Copy Citation Tools Implementing Precision Medicine for Dilated Cardiomyopathy: Insights from The DCM Consortium 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. 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