Journal of Genetic Counseling最新文献

{"title":"Training for the future of the genetic counseling profession: Exploring the assessment and adaptation of graduate programs' didactic curriculum","authors":"Anna K. Vercruyssen,&nbsp;Beverly M. Yashar,&nbsp;Caren M. Stalburg,&nbsp;Monica Marvin","doi":"10.1002/jgc4.2023","DOIUrl":"10.1002/jgc4.2023","url":null,"abstract":"<p>Since the first genetic counseling program (GCP) was established in 1969, there has been a proliferation of growth and demand for genetic counselors. Advances in technology, affordable access to genetic testing, public genomic health initiatives, and diversifying clinical and non-clinical roles comprise a dynamic environment that GCPs must respond to. While there is extensive literature regarding how other health professions adapt their curricula to changing environments, this has yet to be documented and explored for genetic counseling. This study aimed to understand how GCPs evolve their didactic curricula to keep up with the rapidly changing professional landscape. An online survey was used to recruit program leadership of fully accredited GCPs for semi-structured interviews. These interviews explored four critical factors of didactic curricular change, including drivers, implementation, barriers, and mechanisms for evaluation after a change has been made. Interview transcripts were analyzed using reflexive thematic analysis based on iterative discussions with prioritization of excerpts from the codes that had been most commonly applied across multiple transcripts. Multiple factors were identified that program leadership must appropriately weigh when making curricular change decisions. The factors that were considered major influences by all participants included national accreditation standards, program stakeholders, sponsoring institutions and local genetic counseling communities, and the genetic counseling profession as a whole. Our data also demonstrated the extensive role program leadership plays in the adaptation of didactic curricula. With GCP leadership constantly identifying, implementing, and evaluating complex didactic curricular change, there is a need for further exploration of this topic and development of genetic counseling specific resources and tools.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11744034/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143015973","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Practices and perspectives of genetic counselors about high-risk pancreatic cancer screening: A cross-sectional survey study","authors":"Amy Wiegand,&nbsp;Ankit Chhoda,&nbsp;Aparna Namboodiri,&nbsp;Alyssa A. Grimshaw,&nbsp;Disha Dalela,&nbsp;James Farrell","doi":"10.1002/jgc4.2016","DOIUrl":"10.1002/jgc4.2016","url":null,"abstract":"<p>Surveillance of individuals at high-risk of pancreatic cancer using CAPS criteria and other expert consensus guidelines may result in earlier pancreatic cancer detection in some cases; therefore, clinicians are responsible for appropriately identifying and referring these individuals to appropriate high-risk pancreas cancer screening programs. This study aimed at assessing the perspective, knowledge, and clinical practices of cancer genetic counselors surveyed nationwide towards identification of individuals at high-risk of pancreatic cancer and utilization of high-risk pancreatic cancer screening programs. One hundred and eighty-nine genetic counselors who listed “Cancer” as their specialty on the NSGC website responded to the survey, which consisted of multiple practice-based, knowledge-based, and clinical vignette-based questions. Almost 70% of the genetic counselors surveyed accurately identified when an individual would be considered for high-risk pancreatic cancer screening, when using 2019 CAPS consensus guidelines as a benchmark. Access to high-risk pancreatic cancer screening programs and increased provider comfort in counseling individuals at high-risk of pancreatic cancer were found to be statistically associated in accurate identification of high-risk individuals in three of the clinical vignettes. Additionally, 60% of genetic counselors reported the majority of high-risk individuals accept a referral for pancreatic cancer screening, which shows a high uptake of patients accepting referrals from genetic counselors. Genetic counselors have high accuracy in determining who is eligible for high-risk pancreas screening; thus, they are the ideal providers for initiating referrals to high-risk pancreatic cancer screening programs. Genetic counseling programs and high-risk pancreatic cancer screening programs should establish a close working relationship to optimize the identification and subsequent referrals of high-risk individuals eligible for pancreas cancer screening.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.2016","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143016034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The experience of “at-risk” status for familial frontotemporal dementia (fFTD) and its impact on reproductive decision-making: A qualitative study","authors":"Neil Fahy,&nbsp;Oliver S. Hayes,&nbsp;Caroline V. Greaves,&nbsp;Sophie E. Goldsmith,&nbsp;Emilie V. Brotherhood,&nbsp;Jonathan D. Rohrer,&nbsp;Emma Harding,&nbsp;Joshua Stott","doi":"10.1002/jgc4.2000","DOIUrl":"10.1002/jgc4.2000","url":null,"abstract":"<p>Familial frontotemporal dementia (fFTD) is an autosomal dominant heritable form of FTD, onsetting in mid-life, characterized by behavioral and personality changes. Children of an affected parent are at 50% risk of inheriting the relevant fFTD gene variant and developing FTD. Genetic testing means a growing group of people are aware of or considering learning their risk status. This knowledge, combined with witnessing parents' symptoms, has implications for reproduction. This study explores attitudes and approaches to reproductive decision-making among those at risk for fFTD. Thirteen qualitative interviews were conducted with at-risk individuals, including parents and non-parents, and analyzed using Thematic Analysis to explore experiences of at-risk relatives of people with symptomatic FTD, attitudes toward reproductive decision-making, and, among parents, influences of genetic risk status on parenting. The themes identified were: (1) Fear of repetition of own experience with symptomatic relatives; (2) Approaches to mitigating repetition; (3) Responses to genetic risk in reproductive decision-making; (4) Accounting for timing in reproductive decision-making; (5) Challenges of disclosing genetic risk to children; (6) Other mitigating factors in reproductive decision-making. Findings highlight the key role of previous experiences with symptomatic relatives in shaping attitudes toward genetic risk status and approaches to managing it in reproductive decision-making. Findings highlight a need for responsive genetic counseling focused on exploring options alongside providing information and signposting to practical legal and financial support. Future research should specifically compare experiences in fFTD with experiences in other heritable neurodegenerative disorders and explore reproductive decision-making for couples where one partner is at risk of fFTD.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11725773/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142973390","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Application of the RIME framework in genetic counseling fieldwork training to assess practice-based competencies.","authors":"Deborah Cragun, Angela Trepanier, Nevena Krstić, Melissa Racobaldo, Paige Hunt, Susan Randall Armel","doi":"10.1002/jgc4.2007","DOIUrl":"https://doi.org/10.1002/jgc4.2007","url":null,"abstract":"<p><p>Using educational frameworks for learner assessment in genetic counseling (GC) training may help students and supervisors articulate developmentally appropriate clinical skills-based objectives and tasks that align with various stages of training as students work toward achieving entry-level competency. This professional issues case study describes how two GC programs adapted and implemented the RIME (Reporter-Interpreter-Manager-Educator) learner assessment framework, originally designed for medical education, to support and assess students' acquisition of practice-based competencies (PBCs) during clinical fieldwork placements. Each RIME level describes a different set of expectations regarding the skills students should be able to demonstrate based on the level of training they have achieved up to that point in time. In early training, students work mainly on gathering and reporting clinical information (Reporter level). In early to mid-training, students have learned what information to collect from clients and begin to apply the information to generate differential diagnoses (Interpreter level). When students reach the Manager level (typically by mid- to late-training), they can independently develop and implement case management plans tailored to individual cases. The Educator level, which may not be fully attained until after graduation, involves critically evaluating evidence and educating others about new evidence. The following paper describes our experiences incorporating the RIME framework into two GC graduate programs and explains the development of corresponding RIME-based assessment forms that align with the Accreditation Council of Genetic Counseling's 2023 PBCs. Overall, we find that using the RIME framework fosters a growth mindset by enabling students and supervisors to create developmentally appropriate goals and expectations, thereby facilitating assessment and guidance of trainee progress. Despite these perceived benefits, we acknowledge the need for research to evaluate the efficacy of the RIME framework or other learner assessment models in supporting student progression in achieving the GC PBCs.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142815013","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluating genetic counseling session duration: A scoping review of patient care time, influencing factors, and impact on patient outcomes.","authors":"Emily Glanton, Megan Kocher, Molly Bostrom, Brady Erlandson, Heather Zierhut","doi":"10.1002/jgc4.1999","DOIUrl":"10.1002/jgc4.1999","url":null,"abstract":"<p><p>One key element of evaluating the quality of a genetic counseling session is the measurement of its efficiency, yet limited research exists on how the genetic counseling process relates to time and which elements contribute to improved quality of care. A scoping review was undertaken to document studies that have reported genetic counseling patient care time and provide a landscape of the average patient care time, which factors impact patient care time, and how patient care time relates to experiences and outcomes. Twenty-five studies met criteria and were included. Patient care time was reported variably among the studies included. On average, genetic counseling patient care time was a mean of 60 min (53 min median) for observational studies and control groups in experimental studies and 44 min (41 min median) for intervention groups in experimental studies. Interventions impacting patient care time included pre-genetic counseling education and group genetic counseling sessions. The impact of patient care time on patient experiences and outcomes was rarely evaluated, and therefore, efficiency could not often be assessed in the studies. Studies that reported on patient care time and outcomes were able to draw conclusions such as shorter time did not negatively impact patients and some groups of patients may benefit from longer sessions. Most studies did not analyze the relationship between patient care time and patient experiences or outcomes. Future research should aim to identify factors influencing patient care time, assess the content of genetic counseling sessions, and evaluate patient care time in relation to patient experiences and outcomes. Understanding these aspects could lead to improved efficiency and patient-centered, equitable care in genetic counseling practices.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142815014","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An eMERGEing definition of patient engagement in genetic counseling.","authors":"Jacqueline Fung, Misha Rashkin, Claire Barton, Lizette Grajales, Cheng-Wei Jan, Karlena Lara-Otero, Anjali Narain, Sonia Rios-Ventura, Courtney Rowe-Teeter, Astrid Torres Zapata, Brianna Tucker, James M Ford","doi":"10.1002/jgc4.2001","DOIUrl":"https://doi.org/10.1002/jgc4.2001","url":null,"abstract":"<p><p>The concept of patient engagement has been widely studied for decades in the fields of medicine, nursing, psychology, social science, public health, and policy, and increased levels of patient engagement have been shown to improve health outcomes and strengthen reported experiences of care. Despite this, little research has been done to evaluate what patient engagement looks like within the context of a genetic counseling session. Additionally, there is limited literature from researchers based in the United States that aims to better understand patient engagement in non-English-speaking populations. This study is part of a larger protocol entitled \"Multilingual Education Research in Genetic counseling Engagement (MERGE),\" and it explores the elements that make up patient engagement in the context of pre-test genetic counseling for hereditary cancer risk among English- and Spanish-speaking patients. Eligible patients were 18 years or older at the time of their genetic counseling visit, had a personal or family history of breast cancer (if English-speaking) or a personal or family history of any cancer (if Spanish-speaking), and had not previously been seen for hereditary cancer genetic counseling. Out of 40 enrolled participants, 60% of patients (24/40) were English-speaking, while 40% of patients (16/40) were Spanish-speaking. In this study, English transcripts were generated from audio-recordings of clinical, standard-of-care genetic counseling sessions. The transcripts were qualitatively coded by two raters using an inductive approach, allowing for big Q thematic analysis. Six major themes were identified, describing ways in which patients show engagement and participate in decision-making during a pre-test genetic counseling session. All data were analyzed collectively, as assessment of differences between the language groups was not a primary analysis question. From the six themes, a definition of patient engagement in genetic counseling is proposed such that it consists of four \"components\" that together promote shared decision-making: Application of Education; Expression of Emotions; Feelings of Ownership; and Therapeutic Alliance. This working definition of patient engagement in genetic counseling has overlap with previous research on patient engagement in healthcare and with the Reciprocal-Engagement Model of genetic counseling. Future research on this topic can investigate methods for measuring and improving patient engagement across different settings and service delivery models.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142787724","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Experiences of individuals receiving \"Not Parent Expected\" results through direct-to-consumer genetic testing.","authors":"Julia Becker, Liane J Abrams, Jon Weil, Janey Youngblom","doi":"10.1002/jgc4.1977","DOIUrl":"https://doi.org/10.1002/jgc4.1977","url":null,"abstract":"<p><p>As direct-to-consumer genetic testing (DTC-GT) grows in popularity, the unanticipated \"Not Parent Expected\" (NPE) result has become more prevalent. An NPE result is the discovery that one parent, often the father, is not a biological parent. This study explores the impact of making an NPE discovery through DTC-GT. Twenty-five participants were interviewed and transcripts were analyzed using thematic analysis. NPE discovery had an impact on participants' personal identity. They frequently reported having experienced grief and loss among other emotions whether the discovery confirmed a participant's prior suspicions or was unexpected. Strained parent/child relationships prior to the NPE discovery and further negative impact on the relationship after DTC-GC were common themes. Connection to newly identified biological parents and family was a common goal reported by many participants, with mixed outcomes of such connections. Further research will assist in deepening our understanding and confirming the findings of this study.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774906","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deconstructing imposter syndrome among BIPOC genetic counseling students: Insights from a longitudinal qualitative study.","authors":"Nikkola Carmichael, Kimberly Zayhowski, Joselyn Saenz Diaz","doi":"10.1002/jgc4.2004","DOIUrl":"https://doi.org/10.1002/jgc4.2004","url":null,"abstract":"<p><p>\"Imposter syndrome\" is a term used to describe feelings of pervasive self-doubt despite evident success. It is the lay version of \"imposter phenomenon,\" a concept that was proposed as an explanation for why highly accomplished (mostly white and middle- to upper-class) women persisted in believing that their success was due to luck or a mistake despite evidence to the contrary. However, the experience of imposter syndrome in genetic counseling, particularly among Black, Indigenous, and People of Color (BIPOC) individuals, remains underexplored. This study investigates the etiologies and impacts of imposter syndrome among BIPOC genetic counseling students with the aim of elucidating how the term is used and identifying potential interventions. We conducted semi-structured interviews with 26 participants who were part of a longitudinal constructivist grounded theory study investigating the training experiences of BIPOC genetic counseling students. Using reflexive thematic analysis, we constructed themes related to self-doubt, classroom and clinical performance, identity, and disclosing imposter syndrome feelings to others. Participants described imposter syndrome as arising from concerns that they were unprepared for their training program, less qualified than their peers, or admitted by accident or due to their BIPOC identity. Some participants attributed imposter syndrome to being a BIPOC student in a predominantly white profession. Comparisons to classmates and practicing genetic counselors, academic struggles, and anxiety about clinical rotations exacerbated imposter syndrome. Our findings underscore the multifaceted nature of imposter syndrome among BIPOC genetic counseling students and the need for a multipronged approach to mitigate its harmful effects. For BIPOC students, training programs should recognize that imposter syndrome is intertwined with racial inequities within the field that position them as imposters. We propose that supportive relationships with classmates, BIPOC mentors, and other BIPOC students can reduce imposter syndrome and enhance student well-being and academic success.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142781856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Trauma-informed practice for genetic counselors: Insights from a workshop evaluation.","authors":"Georgina Schlub, Kimberley De Deckker","doi":"10.1002/jgc4.2005","DOIUrl":"https://doi.org/10.1002/jgc4.2005","url":null,"abstract":"<p><p>Trauma-informed practice (TIP) is an emerging model of care that acknowledges the widespread impact of trauma and emphasizes both physical and psychological safety for consumer and provider. It is being increasingly integrated into models of healthcare delivery, organizational policies, and practices, and has been shown to improve clinical interactions, increase treatment adherence, and improve healthcare outcomes. However, to date, TIP has not yet been systematically integrated into genetic counseling training and practice. In this study, using the RISE2 Genomics reporting standard, we present the outcomes of developing and evaluating a TIP workshop designed and delivered for genetic counselors in New South Wales, Australia. This workshop was the first of its kind and addressed the unique clinical and psychosocial challenges that genetic counselors face, including the risk of vicarious trauma and the high rates of burnout in the profession. The workshop aimed to enhance genetic counselors' understanding of trauma and its effects, provide practical strategies for communication and engagement with trauma-affected individuals, and offer guidance on incorporating TIP into clinical practice. Genetic counselors who participated in the TIP training expressed strong appreciation for the workshop and reported increased awareness of the ubiquity of trauma and the presentation of traumatic responses, and increased self-perceived knowledge and confidence in providing trauma-informed care. Additionally, participants were interested in ongoing TIP professional development and the integration of TIP into models of genetic counseling and professional practice. As the field of genetic counseling continues to evolve, we suggest that integrating TIP into training, professional development, and practice will not only improve client outcomes but also reduce rates of vicarious trauma and burnout among genetic counselors. This study is the first to consider the educational needs and the incorporation of TIP into genetic counseling practice, and in doing so, it paves the way for future research and policy development that integrates TIP into models of genetic counseling.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of face validity and core concepts of a novel knowledge scale for inherited heart disease: A pilot study","authors":"Susan Christian,&nbsp;Tara Dzwiniel,&nbsp;Amy Baker,&nbsp;Barbara Biesecker,&nbsp;Kennedy Borle,&nbsp;Roya Mostafavi,&nbsp;Jill Slamon,&nbsp;Hannah Wand,&nbsp;Laura Yeates","doi":"10.1002/jgc4.1995","DOIUrl":"10.1002/jgc4.1995","url":null,"abstract":"<p>The rising demand for genetic counseling has prompted the implementation of various innovative service delivery models, such as patient webinars, videos, chatbots, and the integration of genetic testing into mainstream healthcare. To ensure patients receive adequate information for informed decision-making, validated measures to assess these models are essential but currently limited in the setting of inherited heart disease. We aimed to develop and initiate validation of a cardiac knowledge scale, as part of the Multidimensional Model of Informed Choice measure, to assess whether patients (probands and family members) with inherited cardiomyopathies, arrhythmias, and aortopathies are provided with sufficient knowledge to make informed decisions about genetic testing. Content expert genetic counselors identified eight core concepts addressed during genetic counseling sessions; from these, eight true/false knowledge questions were created. Questions were reviewed by 22 international cardiac genetics counselors with additional changes made. Initial validation steps of the knowledge scale were conducted at two sites: the Edmonton Medical Genetic Clinic, University of Alberta Hospital in Edmonton, Canada, and the Genetic Heart Disease Clinic, Royal Prince Alfred Hospital in Sydney, Australia. Face validity was evaluated through nine patient interviews, resulting in minor revisions to four questions and major revisions to one question. An additional five patient interviews were conducted to evaluate the revised questions. The core concepts addressed in each question were further evaluated in the context of patient decision-making about genetic testing. All participants described the eight concepts as either helpful or essential in their decision-making process. The cardiac knowledge scale is a promising measure created to evaluate the informed choice of patients and their families affected by an inherited heart condition. The next step of validation includes trialing the cardiac knowledge scale with a real-world sample of patients deciding about genetic testing for inherited heart disease.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.1995","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}