Journal of Genetic Counseling最新文献

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What are patient perspectives on privacy and trust in digital genomic tools? A qualitative study 患者对数字基因组工具的隐私和信任的看法是什么?定性研究
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-04-30 DOI: 10.1002/jgc4.70025
Vedika Jha, Saumeh Saeedi, Marc Clausen, Daniel Assamad, Sonya Grewal, Daena Hirjikaka, Whiwon Lee, Stephanie Luca, Angela Shaw, Robin Hayeems, Yvonne Bombard, the Genetics Navigator Study Team
{"title":"What are patient perspectives on privacy and trust in digital genomic tools? A qualitative study","authors":"Vedika Jha,&nbsp;Saumeh Saeedi,&nbsp;Marc Clausen,&nbsp;Daniel Assamad,&nbsp;Sonya Grewal,&nbsp;Daena Hirjikaka,&nbsp;Whiwon Lee,&nbsp;Stephanie Luca,&nbsp;Angela Shaw,&nbsp;Robin Hayeems,&nbsp;Yvonne Bombard,&nbsp;the Genetics Navigator Study Team","doi":"10.1002/jgc4.70025","DOIUrl":"https://doi.org/10.1002/jgc4.70025","url":null,"abstract":"<p>Digital tools have emerged as a promising solution to increase the efficiency and capacity of genomic services. However, accessing information through internet-based applications raises concerns about privacy and security risks. As patient-facing digital tools are developed for genomic medicine, it is vital to understand and incorporate patients' perspectives on digital privacy and security. A qualitative study was conducted using semi-structured interviews and interpretive description. Thirty participants who previously received genetic testing for themselves (<i>n</i> = 17) or their child (<i>n</i> = 13) were interviewed (<i>n</i> = 20 females, <i>n</i> = 15 above 50 years old). Participants were willing to store and access genomics personal health information (PHI) in a patient-facing digital platform. The main benefit identified by participants was the ability to access and control their own PHI. Participants expressed that the benefits of digital genomics services, such as patient empowerment and personalized care, outweighed the perceived risks, such as potential data leaks. In order to minimize risks, participants emphasized the importance of transparency about the security measures in place and who would have access to their PHI. These findings inform the design of digital genomic platforms to enhance patients' sense of security, which is critical for the uptake and usage of any platform.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70025","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143892810","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
Genetic counselors providing care to inpatients experience moral distress 为住院病人提供护理的遗传咨询师经历了道德上的痛苦
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-04-30 DOI: 10.1002/jgc4.70017
Kylie Vermeire, Erin Wadman, Hannah Steber, Kristen Fishler
{"title":"Genetic counselors providing care to inpatients experience moral distress","authors":"Kylie Vermeire,&nbsp;Erin Wadman,&nbsp;Hannah Steber,&nbsp;Kristen Fishler","doi":"10.1002/jgc4.70017","DOIUrl":"https://doi.org/10.1002/jgc4.70017","url":null,"abstract":"<p>Moral distress is defined as a negative emotional response that occurs when healthcare professionals cannot carry out what they believe are ethically appropriate actions because of constraints or barriers. The prevalence of moral distress is high among inpatient healthcare providers and has been previously studied in genetic counselors (GCs). It has never been studied, however, among GCs with inpatient roles. This mixed methods study comprised a survey to assess moral distress using the previously validated Measure of Moral Distress—Healthcare Professionals (MMD-HP), followed by semi-structured interviews to further explore the prevalence and experience of moral distress and coping mechanisms to heal from moral distress. Twenty-five GCs who provided inpatient care completed the survey, 10 completed interviews. The survey identified that most (60%; <i>n</i> = 15) GCs in this study were new to the inpatient role, with less than 3 years of experience. The most prevalent sources of moral distress on the MMD-HP included watching patient care suffer because of poor provider continuity and feeling pressured to order or carry out orders for unnecessary/inappropriate tests. Themes from the interviews included: witnessing poor and inconsistent care, lack of time to provide care, pressure to obtain consent, support is needed to manage moral distress, and years of experience in the inpatient role alters the experience of moral distress. Talking with colleagues was the most common mechanism for healing from moral distress. Solutions to reducing moral distress included more administrative support, development of guidelines to promote consistent care, and provider education on the inpatient GC role and appropriate consent. Raising awareness of sources of moral distress among inpatient GCs is vital as the field of inpatient genetic counseling expands, as anticipatory guidance may be able to be provided to new inpatient GCs. Reducing moral distress among inpatient GCs is vital to retaining GCs in these roles.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70017","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143892919","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 job search experiences of genetic counselors who matriculated as international students in the United States: A cross-sectional study 以留学生身份进入美国的遗传咨询师的求职经历:一项横断面研究
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-04-30 DOI: 10.1002/jgc4.70012
Monisha Sebastin, Tanaya Shroff, Natalie Boychuk, Niamh Mulrooney, Priyanka Ahimaz
{"title":"Exploring job search experiences of genetic counselors who matriculated as international students in the United States: A cross-sectional study","authors":"Monisha Sebastin,&nbsp;Tanaya Shroff,&nbsp;Natalie Boychuk,&nbsp;Niamh Mulrooney,&nbsp;Priyanka Ahimaz","doi":"10.1002/jgc4.70012","DOIUrl":"https://doi.org/10.1002/jgc4.70012","url":null,"abstract":"<p>The number of international students being admitted into genetic counseling programs (GCPs) in the US has been consistent for the past decade. While GCPs have made efforts to recruit and support international students during the application process, there is limited understanding of the additional support required by these students to secure employment in the US. This study aimed to explore the experiences and unique challenges of international genetic counselors (IGCs) during their first post-graduation job search in the US. IGCs who graduated from a US-based GCP and were not US citizens at the time of their graduation were surveyed about resources utilized for job search before and after graduating, challenges encountered during different stages of the job search, and sources of support and information used. The survey also assessed the availability of STEM optional practical training program extension (SOE) among GCPs, which enables international students to temporarily work post-graduation in the US while on their student visa. In total, 93 participants completed the survey, most identified as female (93.5%), and aged 25–34 years (61.2%). Participants' citizenships spanned 13 countries at the time of their graduation with largest groups from Canada (53.7%) and India (21.5%). About 65% reported that their GCP accepted international students but did not participate in the SOE program. Furthermore, 45% reported not receiving sufficient informational resources from GCPs and, 62% felt that faculty were unequipped to guide them through job search challenges related to international status. There is a need to extend stakeholders' existing diversity and inclusion efforts beyond admissions to assist the retention of IGCs in the workforce. This exploratory study highlights practical considerations for prospective applicants, GCPs, IGCs and professional societies to adopt that could assist with international graduates' search for employment.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70012","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143892808","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
Laboratory and clinical genetic Counselor's perspectives on the reporting of personal health risks on carrier screening reports 实验室和临床遗传咨询师对携带者筛查报告中个人健康风险报告的看法
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-04-30 DOI: 10.1002/jgc4.70009
Sydney Hubbard, Kristen Fishler, Alexandra Hankewycz
{"title":"Laboratory and clinical genetic Counselor's perspectives on the reporting of personal health risks on carrier screening reports","authors":"Sydney Hubbard,&nbsp;Kristen Fishler,&nbsp;Alexandra Hankewycz","doi":"10.1002/jgc4.70009","DOIUrl":"https://doi.org/10.1002/jgc4.70009","url":null,"abstract":"<p>Carrier screening estimates the risk for an individual to be a carrier of an autosomal recessive or X-linked genetic condition. Incidentally, carrier screening may reveal personal health risks (PHR). Carrier results with PHR are “heterozygous variants which carry health risks similar to or unrelated to the disease caused by variants in a compound heterozygous, homozygous, or hemizygous configuration” (Sagaser et al., 2023, <i>Journal of Genetic Counseling</i>, 32, 540). Despite previous research identifying the carrier screening laboratory report as the most frequently utilized resource when providing post-test counseling for PHR, genetic counselors' preferences and expectations regarding PHR reporting have not been investigated. We developed a 20-item survey using five-point Likert scales and free-response questions related to the format and content of a laboratory report when PHR is identified. Participants were recruited through the NSGC Student Research Survey Listserv and included 48 clinical and eight laboratory genetic counselors. Most participants had neutral (39%) or low satisfaction (48%) with the current reporting of PHR. Participant-free responses highlighted a lack of consistency in how PHR is reported. Most participants (79%) agreed that reports should include clear management recommendations regarding PHR follow-up for providers, such as suggestions for specialty referrals or professional guidelines relevant to risks associated with the specific gene. There was a wide variation in responses regarding whether patients should be able to opt-out of PHR information on carrier screening panels. Free responses collected suggest the need for further investigation and clarification regarding an opt-out policy concerning logistics and consent. PHR for carriers is a nuanced topic, and reporting these risks requires careful consideration. The results of this study provide guidance as to how genetic counselors desire to see PHR reported on carrier reports.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70009","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143892922","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
Collaborative coding in inductive content analysis: Why, when, and how to do it 归纳内容分析中的协作编码:为什么、何时以及如何进行
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-04-30 DOI: 10.1002/jgc4.70030
Free Coulston, Fiona Lynch, Danya F. Vears
{"title":"Collaborative coding in inductive content analysis: Why, when, and how to do it","authors":"Free Coulston,&nbsp;Fiona Lynch,&nbsp;Danya F. Vears","doi":"10.1002/jgc4.70030","DOIUrl":"https://doi.org/10.1002/jgc4.70030","url":null,"abstract":"<p>Inductive content analysis (ICA) is a useful method for analyzing qualitative data in genetic counseling research. It is particularly relevant when the goal is to examine and improve practices or develop recommendations. Although ICA can be undertaken by a single analyst, ideally there is involvement of multiple analysts (or co-coders). Co-coding can bring many benefits to qualitative analysis that sits within a constructivist paradigm, including developing a representation of the data that is not only understandable to more than one individual but also richer and more nuanced. It also provides an opportunity for mentoring more junior researchers and can be an efficient way to analyze large datasets. However, co-coding requires important planning and consideration, and there is currently a paucity of clear guidance. In this paper, we provide an outline of the small body of existing literature on this topic and propose six flexible step-by-step components of our approach to co-coding in ICA, based on our own work. We have utilized it to analyze reporting practices and perspectives for diagnostic genomic sequencing, informed consent for genetic testing, data sharing and storage, and genomic newborn screening, among other topics. To illustrate these components, we present some example vignettes to show how these procedures can be applied in different scenarios and with different analysts.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70030","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143893007","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
Genetic counseling for adult-onset neurogenetic conditions in Hispanic/Latine communities: A qualitative study of barriers and facilitators from Hispanic/Latine genetic counselors' perspectives 西班牙裔/拉丁裔社区成人发病神经遗传疾病的遗传咨询:从西班牙裔/拉丁裔遗传咨询师的角度对障碍和促进因素的定性研究
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-04-30 DOI: 10.1002/jgc4.70034
Melissa Alves Fernandes, Gauri Anand, Maya Rawal, Elizabeth Aleman, Nikkola Carmichael
{"title":"Genetic counseling for adult-onset neurogenetic conditions in Hispanic/Latine communities: A qualitative study of barriers and facilitators from Hispanic/Latine genetic counselors' perspectives","authors":"Melissa Alves Fernandes,&nbsp;Gauri Anand,&nbsp;Maya Rawal,&nbsp;Elizabeth Aleman,&nbsp;Nikkola Carmichael","doi":"10.1002/jgc4.70034","DOIUrl":"https://doi.org/10.1002/jgc4.70034","url":null,"abstract":"<p>Hispanic/Latine (H/Le) individuals, despite being at higher risk for certain adult-onset neurological conditions (AONCs) compared to non-Hispanic white individuals, experience delays in accessing neurologic health services and are significantly underrepresented in clinical research for conditions such as Alzheimer's disease and Parkinson's disease. While existing studies have highlighted barriers to genetic health services for H/Le groups, there is limited research on their experiences with adult-onset conditions beyond cancer. This study aimed to explore the perspectives of H/Le genetic counselors on factors that influence adult neurogenetic counseling (NGC) access for H/Le individuals, and suggestions for expanding access as subject matter experts of both genetic counseling and their respective communities. Using a constructivist paradigm, semi-structured interviews were conducted with six H/Le genetic counselors who have counseled H/Le patients on non-cancer adult-onset conditions, followed by iterative coding of interview transcripts. Codes were grouped into six overarching themes: (1) Participants described familial and personal reasons for pursuing evaluation for AONCs; (2) Barriers to pursuing evaluations for AONCs include limited health literacy, family communication patterns, cultural beliefs, and systemic factors; (3) H/Le patients experience challenges communicating with healthcare providers due to language or cultural expectations; (4) Healthcare providers have limited knowledge about genetics and genetic counseling; (5) Finances influenced access to adult NGC for H/Le communities; and (6) Suggested strategies to increase access to adult NGC. The clinical implications addressed in this study may contribute to ongoing efforts toward improving neurologic health outcomes for H/Le adults.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70034","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143892812","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
Qualitative analysis of the needs of parents of children with rare genetic diseases, following their diagnosis obtained by whole-exome sequencing 通过全外显子组测序获得罕见遗传病患儿诊断后,其父母的需求进行定性分析
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-04-30 DOI: 10.1002/jgc4.70015
Mii Takatsuka, Akira Inaba, Akiko Yoshida, Sayoko Haruyama, Takahito Wada, Shinji Kosugi
{"title":"Qualitative analysis of the needs of parents of children with rare genetic diseases, following their diagnosis obtained by whole-exome sequencing","authors":"Mii Takatsuka,&nbsp;Akira Inaba,&nbsp;Akiko Yoshida,&nbsp;Sayoko Haruyama,&nbsp;Takahito Wada,&nbsp;Shinji Kosugi","doi":"10.1002/jgc4.70015","DOIUrl":"https://doi.org/10.1002/jgc4.70015","url":null,"abstract":"<p>In recent years, an increasing number of affected children have been diagnosed through whole-exome sequencing (WES); however, it remains unclear whether the problems faced by the patients' parents during the undiagnosed period were resolved. This exploratory qualitative study aimed to clarify the needs of the parents of children who have been diagnosed with rare genetic diseases and determine the factors that may help provide the environment necessary for the family to understand and accept the symptoms and characteristics associated with the disease and live with their affected child. Semi-structured interviews were conducted with the parents of children (less than 18 years old) who participated in a research project, namely the Initiative on Undiagnosed and Rare Diseases (IRUD), at Kyoto University Hospital between November 2016 and December 2021. A reflective thematic analysis generated three themes: the benefits of diagnosis from the perspective of parents, the challenges to be solved after diagnosis, and the significance and issues of revealing genetic information. The results showed that the diagnoses provided psychological satisfaction for the parents. However, diagnosis of a hereditary and rare disease can lead to social and medical isolation, and it was necessary to improve the environment around the affected children's families, mainly by taking advantage of the IRUD research system. The analysis indicated the need for psychological support, which can be provided by the clinical genetic department, the need for a follow-up system in collaboration with various clinical departments, and the need to improve the general public's understanding of human genetics.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70015","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143893010","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
Adolescents' and young adults' reactions to and perceived utility of carrier screening results in the context of a genomic research study 在基因组研究的背景下,青少年和年轻人对携带者筛查结果的反应和感知效用
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-04-30 DOI: 10.1002/jgc4.70027
Haley N. Grimes, Michelle L. McGowan, Jessica A. Sinclair, Cynthia A. Prows, Ellen A. Lipstein, Melanie F. Myers
{"title":"Adolescents' and young adults' reactions to and perceived utility of carrier screening results in the context of a genomic research study","authors":"Haley N. Grimes,&nbsp;Michelle L. McGowan,&nbsp;Jessica A. Sinclair,&nbsp;Cynthia A. Prows,&nbsp;Ellen A. Lipstein,&nbsp;Melanie F. Myers","doi":"10.1002/jgc4.70027","DOIUrl":"https://doi.org/10.1002/jgc4.70027","url":null,"abstract":"<p>Although guidelines have historically recommended deferring decisions about learning genomic information for conditions not actionable in childhood until adulthood, youth have increasing access to personal genomic information through research, clinical, and direct-to-consumer testing. However, little is known about young people's reactions to, and perceived future utility of learning genomic information actionable in adulthood. We conducted qualitative interviews with 28 youth ages 15–22 without clinical indications for genetic screening who, through enrollment in a genomic decision-making research study, learned they were carriers of an autosomal recessive condition, or anticipated being carriers but received negative results. Semi-structured interviews occurred virtually between 3 and 16 months after the return of results. Interpretative description guided deductive and inductive coding of transcripts. Of the 28 participants, 21 received positive carrier results, and 7 received negative results. Although some carriers felt the result was unexpected, they expressed relief overall and did not feel worried about their result. Participants with negative results also felt relief about their results. All participants correctly described what a carrier result means, but some carriers could not remember the condition associated with their result. No participant regretted learning personal genomic information, and all reported their results helped them better understand risks to future children. Carriers who perceived the condition for which they were carriers as more severe and/or those familiar with the condition were more likely to remember their result and consider future reproductive options. Carriers also felt testing at their respective age allowed increased familiarity with results and more time to gather information and decide on the personal utility of the information. Our findings suggest early access to genomic information for some youth may allow integration of carrier information over time with minimal adverse effects. More research is needed to assess long-term outcomes among carriers.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70027","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143892813","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
Workplace perk or pitfall? A qualitative study of genetic counselors' perspectives and experiences with workplace genetic testing 职场福利还是陷阱?遗传咨询师对工作场所基因检测的观点和经验的定性研究
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-04-30 DOI: 10.1002/jgc4.70016
Elizabeth Charnysh, Katherine Hendy, Kerry Ryan, Anya E. R. Prince, W. Gregory Feero, Alyx Vogle, Sarah McCain, Alexandra Truhlar, J. Scott Roberts, Charles Lee, Kunal Sanghavi, Wendy R. Uhlmann, the INSIGHT @ Work Consortium
{"title":"Workplace perk or pitfall? A qualitative study of genetic counselors' perspectives and experiences with workplace genetic testing","authors":"Elizabeth Charnysh,&nbsp;Katherine Hendy,&nbsp;Kerry Ryan,&nbsp;Anya E. R. Prince,&nbsp;W. Gregory Feero,&nbsp;Alyx Vogle,&nbsp;Sarah McCain,&nbsp;Alexandra Truhlar,&nbsp;J. Scott Roberts,&nbsp;Charles Lee,&nbsp;Kunal Sanghavi,&nbsp;Wendy R. Uhlmann,&nbsp;the INSIGHT @ Work Consortium","doi":"10.1002/jgc4.70016","DOIUrl":"https://doi.org/10.1002/jgc4.70016","url":null,"abstract":"<p>Some employers offer genetic testing for increased cancer and cardiovascular disease risk, as well as pharmacogenetic variants, as a wellness benefit, which presents unique considerations for genetic counseling. Our ethical, legal, and social implications (ELSI) of genomics study, positioned in a post-positivist paradigm, aimed to qualitatively assess the perspectives and experiences of genetic counselors (GCs) who had counseled on workplace genetic testing (wGT). Semi-structured interviews were conducted with 18 US GCs who either worked in the wGT industry (i.e., role-directed wGT experience) or provided post-test counseling in a clinical setting (i.e., patient-directed wGT experience). Interviews were analyzed following the principles of codebook thematic analysis using a codebook developed from key domains from the interview guide and emergent themes that were identified during data collection. De-identified transcripts were double-coded. Both role-directed and patient-directed GCs recognized the potential benefits of wGT such as increasing access to genetic services and thereby improving health outcomes. However, patient-directed GCs had more concerns about the lack of access to follow-up care and increasing healthcare disparities. Role-directed GCs were generally more supportive of wGT and were more likely to endorse the benefits. Overall, both role- and patient-directed GCs emphasized the need for guardrails, particularly adequate pre- and post-test education, to mitigate potential harms of wGT, such as lack of informed decision-making, psychological distress, false reassurance, and decisional regret. GCs spontaneously drew parallels between wGT and population genomic screening efforts, noting that wGT similarly attempts to increase access to genetic testing for the general population. GCs' perspectives on strategies to maximize the benefits and minimize the harms of wGT may inform ELSI considerations when developing population genomic screening efforts and other programs that aim to expand access to genetic testing for the general population.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70016","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143892853","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
Examining a career exploration workshop's influence on engagement in and accessibility to the genetic counseling profession 考察职业探索工作坊对遗传咨询专业的参与和可及性的影响
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-04-30 DOI: 10.1002/jgc4.70001
Nathan A. Bosch, Sarah Linn, Joevy Sum, Anthony Perez, Lisa Rein, Jennifer L. Geurts
{"title":"Examining a career exploration workshop's influence on engagement in and accessibility to the genetic counseling profession","authors":"Nathan A. Bosch,&nbsp;Sarah Linn,&nbsp;Joevy Sum,&nbsp;Anthony Perez,&nbsp;Lisa Rein,&nbsp;Jennifer L. Geurts","doi":"10.1002/jgc4.70001","DOIUrl":"https://doi.org/10.1002/jgc4.70001","url":null,"abstract":"<p>Prospective genetic counseling students face many barriers when seeking to engage with the genetic counseling (GC) profession and applying to graduate programs. These barriers are exacerbated for individuals who identify as part of an underrepresented minority group due to limited access to academic resources, lack of awareness about career options, and absence of role models and mentors. The NSGC Justice, Equity, Diversity, and Inclusion (JEDI) Action Plan was developed to address disparities in the field with a focus on areas such as education and training. The JEDI Action Plan calls for development of resources and partnerships for recruiting and supporting minoritized communities' access to the field. The Genetic Counseling Career Research &amp; Exploration Workshop (GC-CREW) is a 10-week virtual workshop that was created to offer an inclusive, comprehensive experience that introduces its attendees to the foundations of the GC practice with the mission to increase accessibility and promote diversity within the field. This study utilized a quantitative survey sent to attendees of the GC-CREW with the aim to assess the workshop's impact on their engagement with and accessibility to the GC profession. Results showed 87% of respondents identified as female and 29% as an underrepresented racial or ethnic minority. Respondents that participated in the GC Admissions Match reported a 45% match rate, and 90% percent of respondents reported the GC-CREW helped them envision themselves as a genetic counselor. These findings demonstrate the workshop is an effective way for individuals from underrepresented groups to gain exposure and engage with the genetic counseling profession. Eliminating barriers and promoting accessible opportunities for interested individuals to learn more about the field and prepare for the graduate application process is crucial. These actions move the GC profession toward better reflecting the diverse communities it serves, further equipping it to address their unique healthcare needs.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143892918","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}
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