If you don't remember your password, you can reset it by entering your email address and clicking the Reset Password button. You will then receive an email that contains a secure link for resetting your password
If the address matches a valid account an email will be sent to __email__ with instructions for resetting your password
Correspondence and requests for materials should be addressed to Courtney L. Scherr, Northwestern University, 710 N. Lake Shore Drive, 15th Floor, Chicago, IL 60611
Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Northwestern University, Chicago, ILDivision of Cardiology, Department of Medicine, Bluhm Cardiovascular Institute, Northwestern University Feinberg School of Medicine, Northwestern University, Chicago, IL
Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Northwestern University, Chicago, ILDivision of Cardiology, Department of Medicine, Bluhm Cardiovascular Institute, Northwestern University Feinberg School of Medicine, Northwestern University, Chicago, IL
Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Northwestern University, Chicago, ILDivision of Cardiology, Department of Medicine, Bluhm Cardiovascular Institute, Northwestern University Feinberg School of Medicine, Northwestern University, Chicago, ILDepartment of Biochemistry and Molecular Genetics, Northwestern University Feinberg School of Medicine, Northwestern University, Chicago, IL
Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Northwestern University, Chicago, ILDepartment of Preventive Medicine, Northwestern University Feinberg School of Medicine, Northwestern University, Chicago, IL
Recent advances in genetics can facilitate the identification of at-risk individuals and diagnosis of cardiovascular disorders. As a nascent field, more research is needed to optimize the clinical practice of cardiovascular genetics, including the assessment of educational needs to promote appropriate use of genetic testing.
Methods
Qualitative interviews conducted with cardiovascular specialists (N = 43) were audiotaped. Thematic analysis was conducted on professional transcripts.
Results
Participants recognized the value of genetics in identifying and diagnosing at-risk individuals. However, organizational systems, cost, and feeling of unpreparedness were identified as barriers. Participants felt that the rapid pace of genetic science resulted in further challenges to maintaining an adequate knowledge base and highlighted genetics experts’ importance. Even when a genetics expert was available, participants wanted to know more about which patients benefit most from genetic testing and expressed a desire to better understand management recommendations associated with a positive test result.
Conclusion
Participants recognized the benefit but felt underprepared to provide recommendations for genetic testing and, in some cases, lacked organizational resources to refer patients to a genetics expert. Additional training in genetics for cardiology practitioners and ensuring availability of a genetics expert can improve the use of genetics in cardiology settings.
Establishment of specialized clinical cardiovascular genetics programs: recognizing the need and meeting standards: a scientific statement from the American Heart Association.
Recent advancements in cardiovascular genetics have facilitated the early diagnosis of cardiovascular disease and identification of at-risk individuals. Genetic testing can inform risk status, diagnosis, and management for multiple cardiovascular disorders. Cardiac disorders with established genetic testing include cardiomyopathy and heart failure; arrhythmia syndromes such as long QT syndrome, early onset atrial fibrillation, and Brugada syndrome; the aortopathies such as Marfan syndrome and Loeys Dietz syndrome; familial hypercholesterolemia; congenital heart disease; and neuromuscular disorders. The Heart Rhythm Society and other cardiac professional societies recommend genetic testing as part of risk stratification for managing a number of arrhythmia syndromes, including risks for sudden cardiac death (SCD).
HRS/EHRS expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).
Genetic testing for inherited cardiovascular disorders provides valuable information for diagnosis and family cascade testing; the latter presents unique opportunities for early intervention through screening and risk reduction and reduction in health care costs for unaffected family members.
2017 AHA/ACC/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: executive summary: a Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society.
The correct identification of a genetic condition has been found to reduce morbidity and mortality by predicting those with the highest risk of adverse outcomes and altering medical management earlier in the disease process and ultimately saving health care costs.
At the same time, the incorrect attribution of causation to a variant can be psychosocially and financially costly with respect to diagnosis, prevention/treatment, family risk assessment, and reproductive advice.
Therefore, ensuring cardiovascular physicians and nurses are knowledgeable and prepared to accurately incorporate genetic testing in practice is essential to improving patient outcomes. Previous studies in primary care settings found that providers hold positive views about the importance of genetics
As part of a large study to develop and implement an educational program about genetic advances in SCD, qualitative interviews with cardiovascular providers were conducted to explore the extent to which genetics (eg, genetic testing) is currently integrated in their practice, to explore practitioners’ motivations or interest in using genetics in cardiac care, and to explore their preferences for cardiovascular genetic education.
Materials and Methods
Participants and recruitment
After the approval by the Institutional Review Board at Northwestern University, participants were recruited using purposive sampling from cardiology practices in the Midwest and the Northeast. Potential participants were identified by an expert group of health care providers, researchers, and genetic counselors involved with the study. Interested participants responded to a recruitment email and were screened for eligibility; eligibility criteria included the following: (1) employed by an accredited hospital or clinic in the United States, (2) affiliated with cardiology across the lifespan, (3) involved in the care of patients at risk for SCD, (4) a physician (MD) or advanced practice nurse (APN), and (5) able to read and speak English. After establishing eligibility, potential participants received a Research Electronic Data Capture (Vanderbilt University) link to provide electronic informed consent and complete a demographic survey.
Data collection tools and procedure
The interview guide included questions about participants’ current clinical use of genetics, barriers and facilitators to the integration of genetics into clinical care, motivations for using genetics, and preferences for receiving additional education about cardiac-related genetics. Two investigators trained in qualitative research methods conducted phone interviews between December 2019 and November 2020. Each interview lasted approximately 30 minutes. Participants could receive a $25 gift card in appreciation for their time, or could donate the $25 to the Sudden Arrhythmia Death Syndromes Foundation. Data saturation was achieved around the 35th interview.
Data analysis
Audio files were professionally transcribed, de-identified, checked for accuracy, and transferred into MAXQDA version 20 (VERBI GmbH) for thematic analysis.
First, 2 investigators read and discussed the transcripts and identified codes on the basis of the overarching research questions and interview guide. Subsequently, they closely examined 3 transcripts by applying the codes and identifying emergent themes through iterative discussion leading to the development of a final codebook. They independently applied the codebook to 5 additional transcripts (12%) and achieved acceptable intercoder reliability (α = 83.0). The remainder were divided and coded separately. In total, 4 investigators collaboratively contextualized the codes through discussion and identified overarching themes.
Results
Participant characteristics
A total of 43 participants completed interviews. Most participants were female (n = 26; 60.5%), White (n = 36; 83.7%), and non-Hispanic (n = 42; 97.7%), with mean age 40.7 (SD = 10.85) years. In total, 27 participants were MDs (62.8%) and 16 were APNs (37.2%). Participants were fairly evenly split between adult care (n = 21; 48.8%) and pediatric care (n = 19; 44.2%). Most participants (n = 30; 69.8%) reported spending 76% to 100% of their time in direct patient care, had been practicing medicine for 5 to 10 years (n = 24; 57.1%), and had <5 years of experience working in cardiology (n = 19; 44.2%). Participants’ work environment was categorized according to bed size (medium vs large) using numbers provided by the American Hospital Directory
Agency for Healthcare Research and Quality HOSP_BEDSIZE-Bedsize of hospital. NIS Description of Data Elements. Healthcare Cost and Utilization Project (HCUP).
This investigation examined 3 broad categories, including (1) the current use of genetic testing in practice, (2) motivations to integrate genetic testing, and (3) desired education about cardiac genetics. Two themes emerged across all 3 categories: (1) the rapid advancements in genetic science and (2) the importance of a team-based approach to care (Figure 1).
Figure 1Categories and themes. The 3 boxes indicate the categories of data. The half circles represent the 2 themes that were identified across categories.
Nearly all participants recognized genetics as a rapidly evolving field—exemplified by the perceived speed in which genetics moves from research to clinical application. This subsequently influenced the amount of genetics expertise that the participants desired to gain. In other words, keeping up to date with cardiac genetic science was viewed as outside their scope of practice; this belief was reflected in the type of genetic information they wanted and the frequency with which they wanted to receive it. These views motivated a team-based approach to patient care.
A team-based approach refers to the integration of various professionals with complementary expertise in patient care. Sometimes this approach was enacted through referrals to electrophysiologists, genetics experts, or informal conversations with genetics experts (eg, genetic counselors). In other cases, organizational processes and practices enabled formal regular collaborations via case conferences or interdepartmental meetings. Beyond the genetic counselor, participants described including electrophysiologists, APNs, and cardiology fellows in the identification, referral, and management of patients with a possible genetic condition. Participants who infrequently used genetic testing (including referrals) in practice often described the lack of available genetic expertise in their institution as a barrier. Themes are presented later in further detail. Each participant quote is immediately followed by provider type, bed size, and setting in parentheses.
Use of genetics in practice
All participants used cardiovascular genetic testing but with varying regularity. When ordering testing, nearly all consulted with or referred to a genetic counselor or genetics expert. Those in pediatrics and electrophysiology viewed genetic testing as standard of care and explained that they used genetics more extensively than adult general cardiologists. As a participant shared, ordering genetics in pediatrics is similar to “a knee jerk reflex” (MD, pediatric, medium bed size, academic).
Motivation to use genetics is driven by clinical relevance
Participants described how the potential for genetic test results to inform diagnosis or treatment drove a recent shift to incorporate genetic counseling referrals and testing in their practice. As a participant explained, “when the labs, the clinical labs became more available, it took a little time. I think we were still treating patients based on their clinical situation, but now more and more we're relying more on the genetic test results” (MD, pediatrics, medium bed size, academic). A positive genetic test, participants explained, could save lives, inform therapies, or identify other at-risk family members. A negative genetic test in at-risk family members could reduce screening burden and the associated costs and alleviate worry and anxiety.
Despite general optimism toward the clinical utility of genetics in cardiac care, participants’ motivation was often dampened by perceived limitations in their current knowledge and rapid changes in genetic science. Variants of uncertain significance, inconclusive, or inconsistent results were a challenge when interpreting results and determining patient management. Although genetic testing was viewed as useful, it was noted that genetic causes of cardiac conditions and diseases are rare. Nevertheless, genetics is a quickly evolving field that led many to imagine cardiovascular genetics’ utility for a wider segment of their patient population in the future.
A couple participant specifically indicated that recent guideline changes, which include clinical genetic testing, can motivate genetic testing on a larger scale. Participants also explained that increased implementation of genetics was facilitated by changes within their organization, including simplified administrative processes associated with referrals to genetics and genetic test ordering, and improvements to external processes such as insurance coverage for patients and reductions in cost and time associated with genetic testing.
Access to an expert
Most participants in our study referred to a genetics expert to order testing or integrated genetics using a team approach. Genetics was viewed as a specialized field in knowledge and practice that many felt was outside the scope of their own specialty. Despite recognizing the promise of cardiovascular genetics, participants indicated that it was challenging to stay abreast of emerging evidence. In particular, participants felt responsible for communicating genetic information to their patients, but some did not feel prepared. For example:“I feel like getting the results, there's a certain responsibility when you're the ordering provider in getting the results and then having to communicate that to the patient when you really don't feel as prepared to do that. So, I've tried to just facilitate it getting done rather than being the ordering provider. I feel like I know how to treat heart failure and part of my role is really trying to keep people out of the hospital. But as far as the nitty-gritty, how to interpret genetics results, I don't feel prepared for and thus wouldn't feel comfortable communicating that back to the patient” (#38, APN, adult, large bed size, academic).
Access to a genetics expert was pivotal in motivating genetic testing, in particular, when a genetic counselor who specializes in cardiology has a physical presence in-clinic. Participants with direct access to genetic counselors found it easy to reach them with questions, to provide educational information, and to participate in meetings and case conferences. Genetic counselors’ visibility increased participants’ awareness and kept genetics at the forefront. Those who did not have direct access to a genetic counselor described thinking about genetic testing or referring for genetic testing less often.
Those at institutions with initiatives related to genetics were more likely to consider genetic testing because they had access to genetic counselors who specialized in cardiology. For example, a new organizational initiative to test all patients using a genomic platform generated increased awareness of genetics at the organizational level and generated support for the role of genetic experts within the institution. “The moment the organization got on board with genetics at our organization at a higher level, that’s when it filtered down and it got [a genetic counselor] into the other departments” (APN, adult, large, academic).
Barriers to using genetics in practice
The main barriers were insurance coverage and/or out-of-pocket costs; however, many noted that these barriers were diminishing. Participants described having difficulty in achieving understanding and addressing concerns about the effect of genetic test results on insurance coverage and discrimination when talking with the patient’s family in pediatric settings. Similarly, those who were treating adult patients also cited difficulty in discussing genetic risk with patients as a barrier. Some participants felt uncomfortable ordering or referring for genetic testing because of the lack of knowledge about when to order a test, what test to order, how to interpret the results, and what management recommendations to provide. Organizational barriers existed for some participants with respect to referring patients—particularly if the referral was outside their health care system—placing the order, and knowing where genetics fit within the clinical workflow. As a participant noted, “I don't know if there's one thing that's really prevented me [from using genetics]. It's just not part of my routine when it's trying to follow up with patients… on what they have going on at that exact moment. It's usually kind of in the background, so it's not at the top of my list of things to check off” (APN, adults, large bed size, non-academic).
Education
When asked about what could improve participants’ use of genetics in practice, additional education was often referenced: “I think, actually, it would be interesting just to have a little more education…I guess, what we could be doing better, what’s new in genetics research” (APN, adult, large, academic). Participants’ opinions about their level of genetics knowledge varied, but most felt they could learn more, particularly because genetics was constantly evolving. Rapid advancements in the field of genetics led to both optimism and uncertainty regarding use of genetics in practice and motivated participants’ interest in additional and ongoing education.
Almost no participants received formalized genetics training beyond one-off conference presentations and/or single didactic lectures within their department. Many participants received genetic information through mini-lectures or presentations by genetics experts at their institution. Most often, participants described learning “on the fly” from colleagues, partners, or bosses and by searching the internet, reading publications or review articles, looking for guidelines, and talking with their local genetics expert(s) when that resource existed. This type of education and research occurred when they encountered a patient whom they believed was appropriate for genetic testing or if they provided care for a patient with a positive genetic test result. One participant gave the following description:“There’s a handful of other times where there’s a bell that goes off in your head and you know that you are supposed to pursue genetic testing for this or that, but I think that’s not a super nuanced understanding of what testing to do… there’s probably a lot more stuff for cardiology that I should know. I think that it is not built into the educational curriculum in an obvious or formalized way. We see it all the time and so you learn it on the fly, but that, I’m sure, affects the learning curve for us” (MD, pediatric, medium, academic).
Participants do not want to become experts
Most participants said they were motivated to learn more about genetics, but they did not want to become an expert because genetics was seen as outside the scope of their practice. Participants desired education about broader questions related to testing.“I think having a good understanding of which patients need to be referred for genetic testing and what type of test they should get. Which diagnoses do we recommend genetic testing for, and then particularly, interpretation of the results and understanding how that impacts the further care of my patient, would be helpful” (MD, pediatric, medium bed size, academic).
Participants were interested in understanding who might be at risk for genetic conditions and appropriate surveillance, prevention, or treatment recommendations. Some participants described the value of the genetic counselor’s interpretation notes, but others did not have access to view them because of the electronic medical record limitations and were left to interpret the report on their own. A few participants wanted information about ordering genetic testing because not all laboratories have the same testing options or processes. Topics relevant to their personal specialty within cardiology were of greatest interest. For example, some participants were interested in genetics related to hypertrophic cardiomyopathies, channelopathies, or lipidology, whereas others were interested in genetics related to SCD or the genetics associated with aortic aneurysms or rupture.
Participants preferred short lectures delivered by experts, with some preferring in person to virtual. Many participants wanted these to be presented by a genetics expert within their own clinic or organization who could discuss relevant processes such as referring and testing within their specific health care system. There was no real consensus on whether synchronous or asynchronous education was prefered because both had advantages and disadvantages. They felt simply seeing and hearing from the local genetics expert would serve as a reminder about their services. Receiving education or brief updates more frequently, such as every 3 to 6 months to a year, was deemed necessary owing to the rapid advancements in genetics and to keep genetics at the forefront when they see patients.
Finally, participants reasoned that because patients who are appropriate for genetic testing are uncommon, the training they receive for genetics is often not immediately applicable to practice. Therefore, they wanted quick reference materials for when a patient presented with a phenotype indicative of testing or when a patient received a positive genetic test result.“…when I’m seeing patients myself in a small clinic, when something comes up I need to know about it, right? So, if I see a patient with Marfan syndrome then I need to find out what the latest is on Marfan syndrome. If I’m in a meeting and they say, we’re going to review everything about Marfan syndrome, it doesn’t, at this stage of my career, doesn’t necessarily rule my interest. So it’s more a place where I can go to find out what the latest is on a syndrome once a positive genetic test comes back and some question comes up” (MD, pediatric, large, academic).
Recorded mini lectures that they could rewatch, handouts, and emails that reviewed the latest findings/discoveries with links to relevant articles/publications were suggested as possible solutions. A desire for guidelines was also mentioned by some participants, and a participant wanted an application that they could consult on their phone while moving through clinic.
Discussion
Understanding how cardiac care providers think about and use genetic testing in practice can inform effective educational approaches.
All of our participants integrated cardiovascular genetics in their practice with varying frequency, which often meant referring patients to a genetic counselor. Nearly all participants felt genetics could inform patient diagnosis and management and indicated support for the clinical use of genetics, particularly given the recent advancements in the field. This important finding indicates that cardiology providers recognize the value of genetic testing, and thus, efforts may not need to be expended on gaining support for the value of genetics in cardiology practice.
However, as participants explained, the rapidly advancing nature of genetics is a double-edge sword. Innovations in genetics have reduced costs, increased accessibility, and offered patients promise for improved health outcomes. Nevertheless, the rapidly evolving field can overwhelm medical professionals who are not genetic specialists and who often struggle to keep up with the field. Educational materials and interventions should focus, in part, on resolving this tension, which will hopefully, in turn, expand the field of cardiovascular genetics by allowing those nongenetic providers a greater understanding of the role genetics can play in their patient population. Providers could identify and partner with local Cardiovascular Genetics Clinics that specialize in a range of cardiovascular genetic conditions or Centers of Excellence that exist for some cardiac specific diseases. These specialized clinics often have genetics as part of their program and can even provide interpretation of the genetic test results to the referring MDs, including guideline-based care recommendations and gene-specific medications and/or clinical trials.
Establishment of specialized clinical cardiovascular genetics programs: recognizing the need and meeting standards: a scientific statement from the American Heart Association.
Participants were most interested in topics related to their own specialty, identifying patients who may have a genetic risk, knowing which genes might be associated with those risks, and managing patients with pathogenic (disease-causing) genetic variants. These desired topics are consistent with the American Heart Association scientific statement that recommended cardiovascular providers should at least, “be conversant in basic concepts of genetics and have the ability to evaluate whether their patients might have genetic cardiovascular conditions.”
Participants seek quick-reference information to consult with as they encounter patients who may be at risk for or have a pathogenic genetic variant. Findings from a recent study indicated that genetic and nongenetic professionals spend time seeking out additional information to educate themselves before discussing results with the family.
Thus, having up to date information about cardiology-relevant variants in a single repository with curated guidelines for testing, treatment, and/or management may improve clinical efficacy and facilitate variant interpretation. Having organization specific point of care tools and/or care plans would help them to know what tests might be useful and what the latest guidelines suggest in addition to highlighting organizational workflow and resources that can improve clinical efficiency.
which found cardiologists were prepared to clinically implement genome sequencing, participants in our study, particularly those serving adult populations, felt unprepared to incorporate genetic testing without the support of a genetic expert. Similar to the aforementioned study, participants in our study felt an obligation to know how to interpret and communicate the information from genetic testing to their patients. Apprehension about their own knowledge about genetics and skills in communicating that information to patients prevented some participants from regularly incorporating genetic testing in their practice.
Those whose organization supported genetics by providing department-specific genetic counselors were more likely to integrate genetics in their practice. Despite their enthusiasm, those who did not have a genetic counselor available at their institution did not frequently use genetics in their practice. This also correlates with our participants who noted that the frequency with which they encounter a genetic counselor or genetics expert served as a reminder to consider genetics. Frequent interactions between genetics experts and cardiovascular teams could potentially raise awareness for genetics in practice. A recent American Heart Association scientific statement provides guidance on best practices in cardiovascular genetic testing and highlights the importance of including a genetics professional during patient identification as a candidate for genetic testing to support choosing the appropriate test, interpreting the results, and counseling the patient appropriately.
In addition, several recent studies echo our findings and point to the advantage of including a genetic counselor in cardiac care teams. For example, a recent study found that genetic counselors were more confident in counseling patients with variants of uncertain significance but were less willing to provide treatment recommendations, whereas the reverse was true for cardiologists.
Evaluation of clinical practices related to variants of uncertain significance results in inherited cardiac arrhythmia and inherited cardiomyopathy genes.
An article examining recent changes in pediatric cardiovascular genetics found that the increased use of panel testing, which includes a greater number of genes associated with cardiovascular conditions, has increased the complexity of genetic testing and result interpretation, thus leading to the recommendation of including genetic counselors in pediatric electrophysiology and cardiomyopathy teams.
To summarize, involving a genetic counselor in cardiology practice can facilitate appropriate test selection, facilitate identification of the best person in a family to test, provide accurate result interpretation, and facilitate effective communication with the patient and their family, which ultimately can reduce health care costs.
Participants in this study were identified by an expert group of clinicians, researchers, and genetic counselors. Participants in our study may be more likely to be part of a network more familiar with cardiovascular genetics. Furthermore, all participants were located in urban settings; most participants were located at teaching hospitals and were therefore more likely to have access to a genetics expert. Future research should evaluate the rural providers experiences and those with limited access to a genetics expert.
Conclusion
Cardiology providers find genetics and genetic testing valuable in practice with regard to diagnosis, treatment, and prevention. Cardiac genetics is viewed as a specialized field that should be incorporated in a team-based approach to cardiac care through a cardiac genetics expert; 1 model suggests the use of Centers of Excellence for both patient care and training.
Establishment of specialized clinical cardiovascular genetics programs: recognizing the need and meeting standards: a scientific statement from the American Heart Association.
The increased use of telemedicine may facilitate integration between Centers of Excellence and patients and providers who do not have ready access to integrated cardiac genetics care. Information they believed is needed to facilitate genetic testing through a cardiac genetics expert included information about phenotypes that may indicate genetic testing, the genes associated with conditions related to their specialty, and treatment and management recommendations for those with a positive genetic test. Given the rapid evolution of genetics, cardiology providers wanted updates about genetics frequently to keep this information at the forefront in practice. They also desired easily accessible tools or care plans where genetic information could be referenced when they encountered a patient who might be appropriate for genetic testing and for patients who tested positive.
Data Availability
Data are available from the authors on individual request. Privacy guidelines and/or regulations may limit or restrict sharing to certain individuals such as those trained in human subjects research and privacy protections.
Conflict of Interest
Courtney L. Scherr, Laura J. Rasmussen-Torvik, Maureen E. Smith, Lisa M. Dellefave-Castillo, and Elizabeth M. McNally’s work has been funded by the American Heart Association and the National Institutes of Health. The funders played no role in the design of the study or in interpretation of findings. Courtney L. Scherr, Maureen E. Smith, and Laura J. Rasmussen-Torvik have received compensation from National Institutes of Health grant review panels. Maureen E. Smith has received compensation from the Journal of Genetic Counseling as a section editor and funding from Geisinger Heath System as a grant consultant. Sanjana Ramesh is a consultant for the digital health startup, Renalis, and owns stock in the company. Elizabeth M. McNally has consulted for AstraZeneca, Avidity Biosciences, Amgen Inc, Cytokinetics, 4D Molecular Therapeutics, Janssen, Pfizer Inc, PepGen Inc, Stealth BioTherapeutics Inc, Tenaya, and Invitae Corporation and is the founder of Ikaika Therapeutics, LLC. All the aforementioned activities are unrelated to the content of this manuscript. Kerstin Kalke and Hoda Fakhari declare no conflicts of interest.
Acknowledgments
This project was funded, in part, by the American Heart Association Cardiac Death Strategically Focused Research Network (grants 19SFRN32830054 and 19SFRN34850101), a Strategically Focused Research Network grant from the American Heart Association, United States. Research Electronic Data Capture is supported at Feinberg School of Medicine by the Northwestern University Clinical and Translational Science Institute. Research reported in this publication was supported, in part, by the National Institutes of Health’s National Center for Advancing Translational Sciences, grant number UL1TR001422. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.
K.K.: Data Curation, Formal Analysis, Project Administration, Investigation, Writing-original draft, Writing-review and editing
S.R.: Investigation, Writing-original draft, Writing-review and editing
H.F.: Formal Analysis, Writing-review and editing
L.M.D.-C.: Conceptualization, Resources, Writing-review and editing
M.E.S.: Conceptualization, Resources, Writing-review and editing
E.M.M.: Resources, Writing-review and editing
L.J.R.-T.: Conceptualization, Resources, Writing-review and editing
Ethics Declaration
This study received approval from the Northwestern University Institutional Review Board (STU00210365). All participants provided electronic informed consent before completing the demographic survey and interview. Transcripts from the interviews were de-identified before the analysis, but initials of the institution were retained when mentioned for accuracy of interpretation. This study was conducted in accordance with the Helsinki Declaration.
References
Ahmad F.
McNally E.M.
Ackerman M.J.
et al.
Establishment of specialized clinical cardiovascular genetics programs: recognizing the need and meeting standards: a scientific statement from the American Heart Association.
HRS/EHRS expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).
2017 AHA/ACC/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: executive summary: a Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society.
Evaluation of clinical practices related to variants of uncertain significance results in inherited cardiac arrhythmia and inherited cardiomyopathy genes.
00649-9&id=gr1.jpg){kind=link}