Journal of Genetic Counseling最新文献

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Reading and writing reviews: A primer on systematic, scoping, and narrative reviews for genetic counselors 阅读和写作评论:对遗传咨询师的系统,范围和叙述评论的入门
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-08-28 DOI: 10.1002/jgc4.70106
Amy Donahue, Alex Henigman, Heather MacDonald
{"title":"Reading and writing reviews: A primer on systematic, scoping, and narrative reviews for genetic counselors","authors":"Amy Donahue,&nbsp;Alex Henigman,&nbsp;Heather MacDonald","doi":"10.1002/jgc4.70106","DOIUrl":"https://doi.org/10.1002/jgc4.70106","url":null,"abstract":"<p>For genetic counselors, critiquing and using published literature is crucial to staying at the top of practice, and the ability to critique and use review articles is no exception. Understanding distinct types of reviews and the questions they can answer is therefore an important skill for genetic counselors across practice specialties, professional roles, and experience levels. Additionally, knowing how distinct types of reviews are formally developed and written unlocks opportunities beyond traditional original research studies for genetic counselors to engage as authors in the rigorous academic work and publications needed in our profession. This article aims to help genetic counselors develop a functional understanding of three review types: systematic, scoping, and narrative. Considerations for interpreting and writing these types of reviews are provided, with resources that may serve as a starting point for those interested in going deeper.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144915179","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}
引用次数: 0
Awareness and knowledge of familial breast and ovarian cancer among German general practice patients 德国全科患者对家族性乳腺癌和卵巢癌的认知和知识
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-08-22 DOI: 10.1002/jgc4.70105
Diana Guertler, Ann-Kristin Reinhard, Sabina Ulbricht, Jean-François Chenot, Ute Felbor, Susanne Wurm
{"title":"Awareness and knowledge of familial breast and ovarian cancer among German general practice patients","authors":"Diana Guertler,&nbsp;Ann-Kristin Reinhard,&nbsp;Sabina Ulbricht,&nbsp;Jean-François Chenot,&nbsp;Ute Felbor,&nbsp;Susanne Wurm","doi":"10.1002/jgc4.70105","DOIUrl":"https://doi.org/10.1002/jgc4.70105","url":null,"abstract":"<p>The aim of this cross-sectional study was to describe the awareness and knowledge of familial breast and ovarian cancer among German males and females. Participants were patients ≥18 years from six general practices in Mecklenburg-Western Pomerania. Between April 26 and July 11, 2024, all patients in the waiting room of the practices were systematically approached by a study assistant and invited to an anonymous self-administered survey on familial cancer prevention and health behaviors. A total of 479 (67.0%) patients participated, and 437 with complete outcome data were analyzed (mean age = 54.0, SD = 16.6; males 34.6%). Chi-squared and <i>t</i>-tests were used to examine potential disparities in awareness and knowledge of familial breast and ovarian cancer by gender, age, community size, education level, and cancer history. A large proportion (75.5%) of the participants had heard of hereditary breast or ovarian cancer, and 58.4% had heard of genetic counseling. Awareness of the certified center for familial breast and ovarian cancer in Greifswald (32.5%) and genetic testing for breast and ovarian cancer (39.8%) was lower. On average, 43% of the knowledge questions were correctly answered: largest knowledge gaps concerned the heritability of cancer through fathers and the frequency of gene mutations. Awareness and knowledge levels varied by gender, age, education, and cancer history. Low awareness of genetic counseling and testing may prevent at-risk families from seeking early interventions. Dissemination of knowledge to the general public should focus particularly on individuals with lower education, as they are currently the least informed.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 4","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70105","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144891558","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}
引用次数: 0
Exploring the experience of communication in healthcare settings with parents of children with a rare genetic condition: “It's the more negative ones that you remember” 探索在医疗机构与患有罕见遗传疾病的儿童的父母交流的经验:“你记得的是更消极的东西”
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-08-20 DOI: 10.1002/jgc4.70102
Lucy Burbury, Samantha Ayres, Jackie Boyle, Heather Renton, Aideen McInerney-Leo
{"title":"Exploring the experience of communication in healthcare settings with parents of children with a rare genetic condition: “It's the more negative ones that you remember”","authors":"Lucy Burbury,&nbsp;Samantha Ayres,&nbsp;Jackie Boyle,&nbsp;Heather Renton,&nbsp;Aideen McInerney-Leo","doi":"10.1002/jgc4.70102","DOIUrl":"https://doi.org/10.1002/jgc4.70102","url":null,"abstract":"<p>Rare genetic conditions (molecularly diagnosed and undiagnosed) of childhood are typically complex in presentation and natural history. Consequently, the diagnostic odyssey can result in families having multiple interactions with diverse healthcare professionals. The quality of these interactions has been relatively underexplored. Semi-structured interviews explored various parental experiences of communications with genetics and non-genetics healthcare professionals in Australia. Fourteen parents (12 mothers and 2 fathers) of children with rare conditions (12 diagnosed and 2 undiagnosed) agreed to participate. Each interview was recorded, transcribed, and explored using reflexive thematic analysis. Six themes pertaining to the parental experience of communication around genomics were generated. The first is “the need for family-centered care” where parents described the importance of involving their child in discussions, even when they are non-verbal. Second, “the value of à la carte communication”, highlighted that respectful communication, tailored the needs of each family, was highly valued and improved understanding. The third and fourth themes were “technical language is overwhelming” and “negative word choices can be ‘soul destroying’,” respectively. These themes captured how insensitive and/or overly complex discussions, can have negative and lasting effects. The fifth theme, “all results (diagnostic and non-diagnostic) are significant,” underscored the profound emotional impact of receiving genetic results. The final theme, “where to from here?” revealed that many parents felt abandoned after receiving genetic results and were left to “sink or swim.” Only half of participants had seen a genetic counselor and none could recall being referred to support groups. In conclusion, this study emphasizes the power of language, empathy, and clear, respectful communication for families affected by rare conditions. Additionally, it highlights that these families should have access to genetic counseling and receive referrals for practical and emotional support regardless of whether their child has a molecular diagnosis.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 4","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70102","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144869792","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}
引用次数: 0
Prospective parents' views on reproductive genetic carrier screening: “You know better, you do better” 准父母对生殖基因携带者筛查的看法:“你懂的越好,你做的越好”
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-08-20 DOI: 10.1002/jgc4.70100
Chaya M. Goldman, Sharon Lewis, John Massie, Edwin P. Kirk, Allison Symons, Martin B. Delatycki
{"title":"Prospective parents' views on reproductive genetic carrier screening: “You know better, you do better”","authors":"Chaya M. Goldman,&nbsp;Sharon Lewis,&nbsp;John Massie,&nbsp;Edwin P. Kirk,&nbsp;Allison Symons,&nbsp;Martin B. Delatycki","doi":"10.1002/jgc4.70100","DOIUrl":"https://doi.org/10.1002/jgc4.70100","url":null,"abstract":"<p>Reproductive genetic carrier screening (RGCS) allows screening for hundreds of autosomal recessive and X-linked conditions. Multiple clinical professional bodies recommend that RGCS be offered to all prospective parents. There is some research into attitudes to targeted carrier screening for conditions common in specific populations. However, the attitudes of the public to RGCS for many conditions have not been extensively studied in Australia. The aim of this study was to investigate the views of adults without a personal or familial history of a genetic condition on the inclusion of conditions with varying clinical characteristics in RGCS panels. In 15 semi-structured telephone interviews, participants of reproductive age recruited from an obstetric ultrasound clinic and with convenience sampling in Melbourne, Australia, were presented with descriptions of seven groups of conditions with a range of severities. Participants were asked their views on whether the condition should be included in RGCS and whether they would choose to undertake screening for the condition. Data was co-coded by at least two members of the research team and analyzed with quantitative content analysis and qualitative inductive content analysis. Most participants support the inclusion of a wide range of conditions on screening panels. The perceived severity of the conditions presented to prospective parents influenced their reproductive decision-making. Even if they would not alter their reproductive choices based on a high-risk result, this largely did not influence their views regarding the full range of conditions they believe should be included in carrier screening panels. Participants saw value in the choice and knowledge provided by RGCS panels. Reasons for excluding certain types of conditions included a perceived mild impact on quality of life and concern over societal impacts from broad screening. This study indicates that prospective parents want a tiered approach to RGCS and the ability to choose the severity of conditions included in screening.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 4","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70100","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144869525","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}
引用次数: 0
Shifting ownership, shifting protections: Patient privacy and genetic data ownership in the era of mergers and acquisitions 转移所有权,转移保护:合并和收购时代的患者隐私和基因数据所有权
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-08-20 DOI: 10.1002/jgc4.70101
Deanna R. Darnes
{"title":"Shifting ownership, shifting protections: Patient privacy and genetic data ownership in the era of mergers and acquisitions","authors":"Deanna R. Darnes","doi":"10.1002/jgc4.70101","DOIUrl":"https://doi.org/10.1002/jgc4.70101","url":null,"abstract":"<p>Genetic data, more than ever, are a sought-after asset, often transferred or repurposed under broad privacy policies with limited transparency and passive consent. With the increasing frequency of company mergers and acquisitions within the genetics and genomics industry, growing and underacknowledged risks to patient data privacy have emerged. Though informed consent is a foundational element of clinical genetics, our current process rarely addresses what happens to patient data during business transitions. Regulatory frameworks such as the Health Insurance Portability and Accountability Act (HIPAA) and the Genetic Information Nondiscrimination Act (GINA) provide limited protections; neither governs how de-identified data are handled, nor do they adequately regulate data transfers during business transitions. This article examines how prominent genetic testing companies address changes in data ownership in their privacy policies and consent forms and traces intercompany relationships to highlight how corporate restructuring can quietly alter who holds and controls patient data. As data sets are increasingly combined within our digital health ecosystem and possibly paired with consumer-generated and publicly accessible information, machine learning now enables re-identification in ways unimaginable to the framers of HIPAA and GINA and at a pace that surpasses our ability to revise or enact protective legislation. As genetic data continues to be a highly valuable asset, genetic counselors must incorporate privacy and ownership as essential parts of informed consent. Although no single counseling model can cover every potential risk that needs to be discussed, overlooking these issues leaves patients unaware of how their data might be used, shared, or sold in the future.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 4","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144869791","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}
引用次数: 0
Parental knowledge and attitudes toward genetic counseling and childhood genetic testing for congenital anomalies in Qatar 卡塔尔父母对遗传咨询和儿童先天性异常基因检测的知识和态度
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-08-20 DOI: 10.1002/jgc4.70096
Houda M. Alkilani, Karen El-Akouri, Abdulaziz Farooq, Zumin Shi, Mashael Al-Shafai, Mitchell Stotland, Houssein Khodjet-El-khil
{"title":"Parental knowledge and attitudes toward genetic counseling and childhood genetic testing for congenital anomalies in Qatar","authors":"Houda M. Alkilani,&nbsp;Karen El-Akouri,&nbsp;Abdulaziz Farooq,&nbsp;Zumin Shi,&nbsp;Mashael Al-Shafai,&nbsp;Mitchell Stotland,&nbsp;Houssein Khodjet-El-khil","doi":"10.1002/jgc4.70096","DOIUrl":"https://doi.org/10.1002/jgc4.70096","url":null,"abstract":"<p>This study aims to evaluate parental knowledge and attitudes toward genetic counseling and testing in the context of pediatric plastic surgery in Qatar. It assesses baseline knowledge to identify educational gaps and factors that may contribute to fear or reluctance in managing children with congenital anomalies. Parents of children with congenital anomalies visiting the pediatric plastic surgery clinic at Sidra Medicine participated in an online questionnaire from October 2022 to February 2023. The 37-question survey covered demographics, knowledge, and attitudes toward genetic counseling and testing, with knowledge scores ranging from 1 to 12 (scores above 9 indicating high knowledge). Responses were collected from 160 parents, representing various regions: Asia (26.6%), North Africa 25.3%, the Middle East 20.3%, America/Europe 5.7%, and Qatar 22.2%. Among them, 22.9% reported consanguinity, and 37% had children who underwent genetic testing. American/European parents (<i>p</i> = 0.016) and those with higher education (<i>p</i> = 0.006) showed greater genetic knowledge. Qatari parents had high knowledge 45.7% but lower perceived benefits and higher barriers. Consanguineous parents (<i>p</i> = 0.003) and those referred by medical providers (<i>p</i> &lt; 0.001) had more positive attitudes toward genetic testing, while those with no prior testing experience or without another child with a genetic disorder displayed negative attitudes. This study highlights the need for culturally appropriate education on genetic counseling and testing for parents of children with congenital anomalies. Genetic counselors should consider education levels and consanguinity when discussing genetic testing to empower parents in making informed decisions.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 4","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70096","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144869888","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}
引用次数: 0
Putting control into parents' hands: Parent experiences with a genomic results e-booklet 把控制权交到父母手中:一本基因组结果电子小册子的父母体验
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-08-19 DOI: 10.1002/jgc4.70095
Shelin Adam, Patricia Gombas, Michelle Demos, Cyrus Boelman, Mary B. Connolly, Kyrstin Lavelle, Jan M. Friedman, GenCOUNSEL, Alison M. Elliott, Patricia Birch
{"title":"Putting control into parents' hands: Parent experiences with a genomic results e-booklet","authors":"Shelin Adam,&nbsp;Patricia Gombas,&nbsp;Michelle Demos,&nbsp;Cyrus Boelman,&nbsp;Mary B. Connolly,&nbsp;Kyrstin Lavelle,&nbsp;Jan M. Friedman,&nbsp;GenCOUNSEL,&nbsp;Alison M. Elliott,&nbsp;Patricia Birch","doi":"10.1002/jgc4.70095","DOIUrl":"https://doi.org/10.1002/jgc4.70095","url":null,"abstract":"<p>We evaluated the clinical use of a customizable, multi-language, Genomic Results Booklet (GRB)—a printable e-booklet co-designed with parents—to provide information and guidance to families post-genomic testing. The GRB provides individual genomic results, with implications and resources, all in family-friendly language. Participants were parents of children offered genomic testing in a pediatric neurology clinic. Two and eight weeks after GRB receipt, parents completed surveys to assess usage of the e-booklet. Parents then had a semi-structured telephone interview about their experiences, which were analyzed using interpretive description. Thirty-four parents received a customized GRB, including versions in Punjabi and Arabic. Seventeen booklets were for pathogenic test results, and the other 17 were for noninformative results. The surveys showed that all families would recommend the GRB and had used its resources or supports. About 80% shared it with others, and 67% described it as helpful in future planning. Analysis of 20 parent-interviews revealed that parents valued understandable, relevant information; a written e-pamphlet; a list of appropriate resources; and practical guidance. The GRB is valued by parents to explain their individual genomic testing results, to provide useful supports, specific resources, and a sense of direction in the weeks after receiving results.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 4","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70095","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144869563","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}
引用次数: 0
The evolving role of genetic counselors in South Africa: A decade of growth 遗传咨询师在南非的角色演变:十年的发展
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-08-15 DOI: 10.1002/jgc4.70097
Elzette Gilfillan, Monica Araujo, Jennifer Kromberg, Tina-Marie Wessels, Katryn Fourie
{"title":"The evolving role of genetic counselors in South Africa: A decade of growth","authors":"Elzette Gilfillan,&nbsp;Monica Araujo,&nbsp;Jennifer Kromberg,&nbsp;Tina-Marie Wessels,&nbsp;Katryn Fourie","doi":"10.1002/jgc4.70097","DOIUrl":"https://doi.org/10.1002/jgc4.70097","url":null,"abstract":"<p>Genetic counseling has evolved from focusing solely on congenital anomaly prevention to incorporating psychological counseling. Traditionally, its goal has been to enhance patient care by providing clinical information and facilitating psychological adjustment. However, with the rise of genomics and complex testing technologies, genetic counselors now engage in education, research, clinical practice, and laboratory roles. A previous study from 2013 described the role of genetic counselors in South Africa. This current study provides an updated perspective on these findings and how these roles have diversified. Registered independent genetic counselors were invited via email to complete an electronic survey adapted from the previous study conducted in 2013. The survey collected data on information pertaining to (1) demographics, (2) genetic counseling experience and employment, and (3) work/clinical practice. Data were analyzed using descriptive statistics. Of 44 contacted genetic counselors, 29 responded. Most were female (97%), under 40 years old (60%), and had practiced for less than 10 years (59%). Although many genetic counselors took on multiple responsibilitiessuch as clinical, administrative, research, and teaching—the proportion primarily working in clinical roles declined from 75% (12/16) in 2013 to 45% (10/22) in 2023. Notably, genetic counselors involved in teaching and training had significantly fewer years in practice (<i>p</i> = 0.0396; CI 95%), suggesting a loss of expertise in academic centers. A new trend observed since 2013 is laboratory-based responsibilities, with 68% of participants reporting duties in this area. The role of genetic counselors in South Africa has expanded substantially over the past decade, with a shift away from predominantly clinical roles. These findings highlight the need for adaptation of training programs and strategic workforce planning to retain expertise in academic centers and ensure the continued growth of the profession.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 4","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70097","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144853808","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}
引用次数: 0
Evaluating pregnancy termination rates for fetal chromosome and single gene disorders 评估胎儿染色体和单基因疾病的终止妊娠率
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-08-15 DOI: 10.1002/jgc4.70099
Madeline J. Herman, Emily B. Rosenfeld, Nicole Kasatkin, Gary A. Heiman, Shama P. Khan, Elena Ashkinadze
{"title":"Evaluating pregnancy termination rates for fetal chromosome and single gene disorders","authors":"Madeline J. Herman,&nbsp;Emily B. Rosenfeld,&nbsp;Nicole Kasatkin,&nbsp;Gary A. Heiman,&nbsp;Shama P. Khan,&nbsp;Elena Ashkinadze","doi":"10.1002/jgc4.70099","DOIUrl":"https://doi.org/10.1002/jgc4.70099","url":null,"abstract":"<p>We report pregnancy termination rates following a variety of fetal diagnoses and determine which factors may influence this decision. We conducted a retrospective chart review of pregnancies diagnosed with a genetic abnormality at a single institution from January 2012 to April 2023. The type of diagnosis, termination status, and thirteen demographic factors were collected. The primary outcome assessed was whether or not an individual terminated the pregnancy. Data analysis consisted of multivariable logistic regression. Of the 2120 patients who underwent prenatal diagnostic testing, 332 received a fetal diagnosis and met inclusion criteria. The overall termination rate was 61.5% (204/332). Compared with sex chromosome abnormalities, trisomy 18/trisomy 13/triploidy (adjusted odds ratio [aOR] 6.35, 95% Confidence Interval [CI] 1.93–20.90) and trisomy 21 (aOR 4.39, 95% CI 1.58–12.24) had higher odds to terminate, while likely benign copy number variants (CNVs) (aOR 0.17, 95% CI 0.03–0.99) had lower odds to terminate. Black paternal race and ethnicity had a lower termination rate (aOR 0.08, 95% CI 0.03–0.23) compared to White counterparts. Earlier gestational age at diagnosis was associated with higher odds of termination (aOR 0.84, 95% CI 0.78–0.90). This study demonstrates that termination rates varied by type of fetal diagnosis. Paternal race and ethnicity, as well as gestational age at diagnosis, also impacted the decision to terminate.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 4","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70099","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144853804","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}
引用次数: 0
Factors associated with increased burnout in genetic counseling students 遗传咨询学生倦怠增加的相关因素
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-08-15 DOI: 10.1002/jgc4.70094
Halle McCormick, Leah Wetherill, Laura Oehlman, Paula Delk
{"title":"Factors associated with increased burnout in genetic counseling students","authors":"Halle McCormick,&nbsp;Leah Wetherill,&nbsp;Laura Oehlman,&nbsp;Paula Delk","doi":"10.1002/jgc4.70094","DOIUrl":"https://doi.org/10.1002/jgc4.70094","url":null,"abstract":"<p>Genetic counseling students face numerous stressors during their graduate program, which can lead to negative outcomes such as burnout. Burnout can negatively impact students' ability to perform well, maintain stamina, and feel competent throughout their training. The Maslach Burnout Inventory (MBI) is a validated survey that assesses three domains that together define burnout: exhaustion, cynicism, and low self-efficacy. One hundred eighty genetic counseling students from the classes of 2024 and 2025 within the United States and Canada completed a cross-sectional, quantitative survey which included the MBI validated for students, a list of 19 situations tailored to students in genetic counseling training programs that may cause stress, and three open-ended questions asking what activities helped reduce stress, including resources provided by the program and resources students would like to be provided. Genetic counseling students endorsed an average of nine situations that caused them “some” or “a lot” of stress. Results revealed that 12% of current students met criteria for having burnout (defined as high exhaustion, high cynicism, and low self-efficacy); an additional 20% met criteria for two of the three burnout subscales. The most consistent predictors of burnout were the numbers of situations causing a student stress and being in the latter part of training. Thematic analyses revealed that personal activities, social activities, and mental health services helped reduce stress, while support in relation to academics was a desired resource. This study reveals that burnout is experienced by genetic counseling students and is associated with factors such as having a high number of situations causing a student stress or being more than halfway through the graduate program. These results provide insight into areas and methods for genetic counseling graduate programs to attenuate burnout in their students.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 4","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70094","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144853807","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}
引用次数: 0
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