Journal of Genetic Counseling最新文献

{"title":"Preferences of parents from diverse backgrounds on genomic screening of apparently healthy newborns","authors":"Nina B. Gold,&nbsp;Jacklyn O. Omorodion,&nbsp;Maya C. del Rosario,&nbsp;Greysha Rivera-Cruz,&nbsp;Celeste Y. Hsu,&nbsp;Sonja I. Ziniel,&nbsp;Ingrid A. Holm","doi":"10.1002/jgc4.1994","DOIUrl":"10.1002/jgc4.1994","url":null,"abstract":"<p>Genomic sequencing has been proposed as a strategy to expand newborn screening. Perspectives on genomic newborn screening from parents of diverse racial, ethnic, and socioeconomic backgrounds are needed to shape equitable implementation of this modality. We conducted 20 semi-structured interviews (15 English, 5 Spanish) and seven focus groups (4 English, 3 Spanish) with parents from diverse backgrounds to assess their perspectives regarding which disorders and variants might be screened, data privacy, and barriers to pursuing specialized care. Parents felt that genomic newborn screening would provide them with improved understanding of their children's health and had the potential to yield health and personal benefits. Themes that became evident included: interest in childhood and family health risks, the value of emotional preparation and personal planning, understanding of uncertain and low-risk results, concerns regarding data privacy, and concerns about support following the receipt of a positive newborn screening result. The expected benefits and concerns expressed by parents of diverse backgrounds regarding genomic newborn screening should guide future policy decisions. Their preferences should be considered prior to the implementation of large-scale genomic newborn screening programs.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.1994","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142513215","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":"Cross-cultural adaptation and validation of a French version of the perceived personal control questionnaire as an outcome measure instrument for genetic counseling","authors":"Camille Raîche,&nbsp;Julie Lapointe,&nbsp;Célia Villafane-Bernier,&nbsp;Jocelyne Chiquette,&nbsp;Karine Bouchard,&nbsp;Sylvie Pelletier,&nbsp;Arian Omeranovic,&nbsp;Philippe Fortier,&nbsp;Claire Brousseau,&nbsp;Sophie Lauzier,&nbsp;Johanne Hébert,&nbsp;Michel Dorval,&nbsp;Hermann Nabi","doi":"10.1002/jgc4.1989","DOIUrl":"10.1002/jgc4.1989","url":null,"abstract":"<p>The perceived personal control (PPC) questionnaire serves as an instrument to assess the concept of PPC, which refers to a person's perception of their ability to achieve positive outcomes while avoiding the negative effects of a given situation. Developed and used as a patient-reported outcome measure (PROM) in genetic counseling, the PPC questionnaire has been translated and validated in several languages, but not in French. The aim of this study was to cross-culturally adapt and validate a French version of the PPC questionnaire to evaluate genetic counseling services for hereditary breast and ovarian cancer (HBOC). After the translation into French, cognitive interviews were conducted with nine participants who had attended genetic counseling for HBOC to examine the adequacy of this French version and to verify participants' understanding of the questionnaire items. Cognitive interview data suggested that slight modifications should be made to four of the nine items and that it would be beneficial to add a short introduction to ensure that participants' interpretation corresponded to the intended meaning. Psychometric validation was then conducted with 99 participants who had also attended genetic counseling for HBOC. Counselees completed the questionnaire before and after their genetic consultation. The acceptability of the questionnaire was demonstrated by the presence of few missing items. The original three-factor solution was not confirmed by our exploratory factor analysis, suggesting that the questionnaire should be used as a one-dimensional instrument. The internal consistency of the questionnaire was high, with Cronbach's alpha of 0.89 before genetic counseling and 0.88 after. The significant increase in PPC scores before and after genetic counseling supports the responsiveness of the questionnaire. Convergent validity was confirmed by positive association with counselees' satisfaction with genetic counseling. These properties suggest the French PPC questionnaire is a valuable instrument for use as a PROM in genetic counseling research.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.1989","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142513214","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":"Applying theories, models, and frameworks to help genetic counselors and students achieve clinical and professional goals","authors":"Deborah Cragun,&nbsp;Lindsey Victoria,&nbsp;Angela R. Bradbury,&nbsp;Marleah Dean,&nbsp;Jada G. Hamilton,&nbsp;Mira L. Katz,&nbsp;Alanna Kulchak Rahm,&nbsp;Jennifer W. Mack,&nbsp;Ken Resnicow,&nbsp;Kimberly A. Kaphingst","doi":"10.1002/jgc4.1988","DOIUrl":"10.1002/jgc4.1988","url":null,"abstract":"<p>Some genetic counselors (GCs) may find theories, models, and frameworks (TMFs) useful in clinical skills selection and when reflecting on or evaluating genetic counseling practice. This paper aims to demonstrate how TMFs can be used to postulate how different skills may impact patients'/clients' decisions, behaviors, and outcomes and consider how multiple TMFs can inform the use of various skills or strategies to achieve different goals. Additionally, we provide examples of TMFs that may help GCs in nonclinical aspects of their work, such as implementing and evaluating new interventions or service delivery models. To guide the selection of appropriate TMFs, we provide a set of questions to consider and include examples of skills and approaches that align with different TMFs. While TMFs provide a structured approach and valuable guidance that may help advance genetic counseling practice, they have certain limitations. Additional research is necessary to determine the effectiveness of using TMFs to guide clinical practice and improve patient/client outcomes.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142513213","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":"A survey to analyze the need of genetic counseling among doctors in Lahore, Pakistan","authors":"Afsah Asif Shaikh,&nbsp;Maryam Imran,&nbsp;Aqsa Azhar,&nbsp;Syeda Laraib Hassan,&nbsp;Tanveer Majeed,&nbsp;Tawaf Ali Shah,&nbsp;Yousef A. Bin Jardan,&nbsp;Ayesha Zulfiqar,&nbsp;Muhammad Usama Azhar,&nbsp;Shumaila Zulfiqar","doi":"10.1002/jgc4.1990","DOIUrl":"10.1002/jgc4.1990","url":null,"abstract":"<p>Pakistan with a population of approximately 200 million people faces a significant burden of genetic disorders. Higher preference for consanguinity (73%) is one of the significant reasons. Despite being a hub for rare genetic disorders, the country lacks professionally trained genetic counselors due to the absence of postgraduate degree programs or diplomas in genetic counseling. This shortage of specialized personnel results in inadequate and limited genetic counseling practices nationwide. This study aimed to highlight the urgent need for genetic counseling in Pakistan, focusing on the gaps within both society and the healthcare infrastructure. A survey-based study involving <i>n</i> = 101 participants was conducted to assess the demand for genetic counseling among medical professionals in Lahore, Pakistan. The study targeted five categories of medical specialists—gynecologists, oncologists, psychiatrists, pediatricians, and ultrasonologists—working in both private and public healthcare settings in Lahore. The survey included a questionnaire covering demographic information, 10 general questions, and a case study with follow-up questions. The survey was conducted both online and through in-person visits. Our findings reveal a significant lack of awareness among healthcare providers, with 91.1% of respondents unaware of any genetic counseling services or genetic counselors in Lahore. The research underscores the crucial role of genetic counselors, with the vast majority (99%) of specialists expressing an urgent need for their presence in Pakistan's healthcare system. This study highlights that only qualified genetic counselors can effectively address genetic issues. Furthermore, it advocates for the introduction of specialized professional training programs to address this pressing need in the country.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142513212","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":"A qualitative study on the field experience of genetic counseling in Korea","authors":"In Hee Choi,&nbsp;JeongYun Park,&nbsp;Haeng-Mi Son","doi":"10.1002/jgc4.1987","DOIUrl":"10.1002/jgc4.1987","url":null,"abstract":"<p>In Korea, genetic counseling services began with the opening of genetic clinics in the early 1990s; in recent years, demand for these services has increased. However, genetic counseling is not an officially recognized healthcare service under the Korean national health insurance system; further, its certification is not recognized as a medical qualification. To clarify the role and significance of genetic counselors, this study examined their field experiences. To this end, we conducted focus group interviews with 11 certified genetic counselors, six advanced practice nurses, and four regular nurses. The interviews were transcribed verbatim and examined using thematic analysis. We found that even though Korea did not recognize their roles, the participants met their responsibilities and primary duties. In addition, they faced challenges during counseling due to a lack of formal education in genetics and genomics. Moreover, they encountered dilemmas related to the legal and ethical aspects of decision support for family testing or prenatal diagnosis due to the complexity of rare genetic disorders. However, they attempted to acquire the specialized knowledge needed to support patients with rare genetic disorders and their families, gradually developing practical experience and specialized knowledge. Therefore, it is necessary to develop manuals, establish systems, and improve working environments to provide high-quality and specialized genetic counseling. Additionally, there is a need for national support, such as establishing set wages for genetic counselors, developing a national qualification certification system, and securing dedicated personnel.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.1987","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142513211","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":"Cardiac genetic counseling services: Exploring downstream revenue in a pediatric medical center","authors":"Marianne Olson,&nbsp;Jeffrey Anderson,&nbsp;Sara Knapke,&nbsp;Adam Kushner,&nbsp;Lisa Martin,&nbsp;Christopher Statile,&nbsp;Amy Shikany,&nbsp;Erin M. Miller","doi":"10.1002/jgc4.1984","DOIUrl":"10.1002/jgc4.1984","url":null,"abstract":"<p>Genetic counseling is an important component of pediatric cardiac care. The financial costs and benefits of this care have yet to be defined in the literature. Downstream revenue (DSR) analysis can be used to assess the economic impact of genetic counselors (GCs) at their institution beyond the initial patient contact. Previous literature has reported DSR generated by oncology GCs, but there is no published DSR data from a cardiac GC setting. This study measured the DSR generated at a private hospital following a cardiac GC appointment. A chart review identified patients seen by a cardiac GC between 2018 and 2022. The study population included patients and their pediatric relatives who had not previously seen a cardiologist. Patients were included if they were affected with or at-risk for long QT syndrome, hypertrophic cardiomyopathy, dilated cardiomyopathy, or familial thoracic aortic aneurysm at the time of the GC visit. We recorded the frequency of common cardiac services and calculated the reimbursement for all cardiology services for 1 year following the initial GC appointment. The cohort included 121 participants from 61 families. Most individuals were at-risk for (<i>n</i> = 114, 94.3%) rather than affected by an inherited cardiac condition and presented for screening. The total DSR was $247,592.27, with an annual median of $1819.50 per patient (IQR $0, $3761.33). Revenue was similar among individuals who had undergone genetic testing and those who had not. Among participants, 72 (59.5%) had subsequent cardiology services. Most frequently, a patient who presented for subsequent care had an EKG, an echocardiogram, and a cardiology appointment. While the economic contributions of GC services do not speak to the broader value of GC involvement in patient care, they are important metrics for sustainability. This study outlines an approach to evaluating DSR and establishes a baseline understanding of DSR related to cardiac GC services.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.1984","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142481290","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":"Randomized control trial comparing genetic counseling service delivery models in an underserved population","authors":"Sayoni Lahiri,&nbsp;Jacqueline Mersch,&nbsp;John Zimmerman,&nbsp;Caitlin Mauer Hall,&nbsp;Kelsey Moriarty,&nbsp;Amber Gemmell,&nbsp;MinJae Lee,&nbsp;Cheyla Clark,&nbsp;Michelle Luong,&nbsp;Caroline Stokes,&nbsp;Kathryn Romano,&nbsp;Cynthia A. James,&nbsp;Sara Pirzadeh-Miller","doi":"10.1002/jgc4.1975","DOIUrl":"10.1002/jgc4.1975","url":null,"abstract":"<p>This randomized controlled trial compares outcomes of telephone versus in-person genetic counseling service models in underserved, bilingual patient populations referred for cancer genetic counseling. Between 2022 and 2023, a two-arm (telephone vs. in-person genetic counseling) prospective, randomized controlled study with 201 participants was conducted at two county hospital cancer genetics clinics. Primary outcomes included comparison of pre- and post-genetic counseling genetics knowledge (Multi-dimensional Model of Informed Choice, MMIC), genetic counseling visit satisfaction (Genetic Counseling Satisfaction Scale, GCSS), and genetic counseling visit completion rates. Secondary outcomes included comparison of genetic testing attitudes and informed choice (MMIC), genetic counseling-specific empowerment (Genomic Outcomes Scale, GOS), and genetic testing completion and cancellation/failure rates, using linear regression models (significance ≤0.05). There were no statistically significant differences between arms in pre/post-genetic counseling MMIC knowledge and attitude, GOS or GCSS scores or genetic counseling completion. While more participants in the telephone versus in-person arm made an informed choice about testing (52.5% v. 39.0%, <i>p</i> = 0.0552), test completion was lower (74% v. 100%, <i>p</i> &lt; 0.05) for this group. Genetic counseling completion rates and MMIC knowledge and attitude, GOS, and GCSS scores suggest telephone genetic counseling is comparable to in-person genetic counseling for underserved populations. Higher informed choice scores and significantly lower testing completion rates for telephone visits require further study.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.1975","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142382488","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":"Incorporating multiracial and multiethnic experiences into genetic counseling practice and research: A necessary opportunity","authors":"Chenery Lowe,&nbsp;Justin Gomez-Stafford,&nbsp;Daphne O. Martschenko","doi":"10.1002/jgc4.1976","DOIUrl":"10.1002/jgc4.1976","url":null,"abstract":"<p>The conflation of race and genetic ancestry can have harmful consequences. Biological conceptualizations of race have long been used to justify inequities and distract from social structures that afford opportunities to some that are unjustly denied to others. Despite recent efforts within the scientific community to distinguish between the sociopolitical constructs of race and ethnicity and the biological constructs of genetic ancestry and genetic similarity, their conflation continues to influence genomic research and its translation into clinical care. One overlooked aspect of this problematic conflation is the extent to which discrete monoracial and monoethnic categorization systems persist and perpetuate unequal benefit-sharing in the clinical translation of genomic technologies. In genetic service delivery, reliance on discrete racial and ethnic categories undermines the clinical translation of genomic technologies for large segments of the global population. For multiracial and multiethnic individuals, who have complex identities that defy discrete categorization systems, the potential benefits of genomic discoveries are especially elusive. Scholars have recently begun to call for the inclusion of multiracial, multiethnic, and admixed individuals in race, ethnicity, and ancestry frameworks in genetics and genomics. However, little work has been done to explore and address the unique challenges and opportunities posed by multiracial/multiethnic individuals in genetic counseling specifically. We discuss how conceptualizing diversity along discrete racial and ethnic lines perpetuates inequitable patient care and limits efforts to increase inclusion and belonging within genetic counseling. Moreover, we argue that ongoing efforts to mitigate racial inequity must actively challenge the paradigm of monoracial and monoethnic categories to accomplish their goal.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142395403","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":"The effect of knowledge and person-related factors on breast cancer susceptibility genes (BRCA1/2) testing perception in Turkish women","authors":"Mertcan Nabioglu,&nbsp;Tulay Kus,&nbsp;Gokmen Aktas,&nbsp;Konca Ahmet,&nbsp;Hacı Arak","doi":"10.1002/jgc4.1974","DOIUrl":"10.1002/jgc4.1974","url":null,"abstract":"<p>Genetic testing for breast cancer susceptibility genes (BRCA1/2) plays a pivotal role in risk assessment and preventive interventions. However, individuals' awareness, knowledge, and attitudes toward genetic testing can vary across different societies. This study focuses on understanding Turkish women's knowledge, perceptions, and attitudes toward BRCA1/2 testing, considering demographic factors and awareness. In this cross-sectional study, 301 Turkish participants, including breast/ovarian cancer patients and their first-degree relatives, were surveyed. Information on sociodemographics, cancer history, awareness, knowledge, and perceptions was collected. The study aimed to assess knowledge levels about breast cancer inheritance and BRCA1/2 testing, describe perspectives about testing in women with a family history of breast or ovarian cancer, and determine associations between knowledge, personal factors, anxiety, and genetic testing perspectives. Results showed a wide range in correct responses (31.6%–96.7%) for knowledge items. No significant relationship between knowledge levels and positive perception was observed. However, participants answering a specific question incorrectly showed higher negative perceptions. While most participants recognized the benefits of genetic testing, concerns centered around passing the genes to future generations. Participants who were younger, more educated, had higher income, were employed, at an earlier disease stage, and were social media users demonstrated more positive attitudes. Negative perceptions were higher among younger patients, physicians, and healthcare professionals. Interestingly, anxiety in cancer patients did not correlate with either positive or negative perceptions. In conclusion, this study identifies participant-related factors influencing perceptions of hereditary genetic tests. Understanding these factors and addressing associated issues can enhance the utilization of genetic testing and promote preventive oncology applications.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.1974","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142382489","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":"Cancer genetic counseling via telegenetics and telephone: A qualitative study exploring the experience of patients and genetic counselors in an Australian cancer genetics context","authors":"Jessica Finney,&nbsp;Verna Fargas,&nbsp;Tina Gonzalez,&nbsp;Natalie Taylor,&nbsp;Claire E. Wakefield,&nbsp;Kathy Tucker,&nbsp;Erin Turbitt,&nbsp;Rachel Williams","doi":"10.1002/jgc4.1982","DOIUrl":"10.1002/jgc4.1982","url":null,"abstract":"<p>The demand for direct-to-patient (DTP) telegenetics (genetics services delivered via videoconferencing) in genetic counseling practice has rapidly increased, particularly since the COVID-19 pandemic. Recent telegenetics literature is mostly quantitative and not in the Australian context. A qualitative interview study was conducted to address this gap. This research investigated the experiences of patients and genetic counselors (GCs), enrolled in a randomized controlled trial, using telegenetics and telephone for cancer genetic counseling appointments. Twenty-eight semi-structured interviews with patients (<i>n</i> = 22) and GCs (<i>n</i> = 6) were conducted following patient randomization to either a telephone or telegenetics genetic counseling appointment. The interviews explored participant's experiences of telegenetics and compared DTP telegenetics with telephone and in-person delivery. Codebook thematic analysis was used to develop topic summaries from the data. Patient and GC participants noted positive experiences of telegenetics; with key benefits reported as reduced travel time, time and cost saving, ease, convenience, efficiency, and comfortability. Technical issues and privacy concerns were highlighted as potential disadvantages of telegenetics. All but one patient felt sufficiently emotionally supported while using telegenetics. Telegenetics has both benefits and limitations; however, generally, this cohort found telegenetics to be a suitable and acceptable mode of delivery for genetic counseling with many advantages over in-person or telephone appointments. Further studies should be conducted to provide evidence for the long-term implementation of telegenetics, regardless of any future COVID-19 pandemic lockdown restrictions.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.1982","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142382487","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}