Journal of Community Genetics最新文献_第2页

"I don't think people should die young": perspectives of parents with children diagnosed with familial hypercholesterolemia. "我不认为人们应该英年早逝"：子女被诊断出患有家族性高胆固醇血症的父母的观点。

IF 1.5

Journal of Community Genetics Pub Date : 2024-10-01 Epub Date: 2024-08-10 DOI: 10.1007/s12687-024-00725-8

Hsiao H Tsai, Jennifer L Young, Sara Cherny, Cat Davis Ahmed, Sadiya S Khan, Debra Duquette

{"title":"\"I don't think people should die young\": perspectives of parents with children diagnosed with familial hypercholesterolemia.","authors":"Hsiao H Tsai, Jennifer L Young, Sara Cherny, Cat Davis Ahmed, Sadiya S Khan, Debra Duquette","doi":"10.1007/s12687-024-00725-8","DOIUrl":"10.1007/s12687-024-00725-8","url":null,"abstract":"Familial Hypercholesterolemia (FH) is an inherited disorder that significantly increases an individual's risk of developing premature cardiovascular disease (CVD). Early intervention involving lifestyle modification and medication is crucial in preventing CVD. Prior studies have shown that lipid-lowering therapy in children is safe and effective. Despite FH being a treatable and manageable condition, the condition is still underdiagnosed and undertreated. Universal lipid screening (ULS) in children has been recommended by some medical experts in the United States as a strategy to identify cases of FH and maximize the benefits of early invention. However, lipid screening is not routinely offered in pediatric clinics. This study aimed to explore parental experience with FH diagnosis in their children, identify key facilitators and barriers in children's diagnosis and care, and examine parental perspectives on ULS in children in the United States. A total of fourteen semi-structured interviews were conducted with participants recruited through the Family Heart Foundation. Thematic analysis identified three key themes: role of family history in facilitating child's FH diagnosis, barriers and challenges in post-diagnosis care, and attitudes towards ULS in children. All participants supported ULS in children and emphasized the value of early diagnosis and treatment for FH. However, a lack of guidance or referral after the child's diagnosis was a concern raised by many participants. This underscores the need for accessible and comprehensive care amid ongoing efforts to increase pediatric diagnosis of FH.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141914244","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

What do women want to see in a personalized breast cancer risk report? A qualitative study of Asian women of two countries. 女性希望在个性化乳腺癌风险报告中看到什么？对两个国家的亚洲妇女进行的定性研究。

IF 1.5

Journal of Community Genetics Pub Date : 2024-10-01 Epub Date: 2024-09-25 DOI: 10.1007/s12687-024-00735-6

Fatma Aldila, Fiona Ng Fj, Jessica Audrienna, Lynn Lim Sj, Shannon Tang, Sabrina Gabriel Tanu, Eric Aria Fernandez, Faustina Audrey Agatha, Marco Wijaya, Stevany Tiurma Br Sormin, Levana Sani, Astrid Irwanto, Samuel J Haryono, Jingmei Li, Alexandre Chan, Mikael Hartman

{"title":"What do women want to see in a personalized breast cancer risk report? A qualitative study of Asian women of two countries.","authors":"Fatma Aldila, Fiona Ng Fj, Jessica Audrienna, Lynn Lim Sj, Shannon Tang, Sabrina Gabriel Tanu, Eric Aria Fernandez, Faustina Audrey Agatha, Marco Wijaya, Stevany Tiurma Br Sormin, Levana Sani, Astrid Irwanto, Samuel J Haryono, Jingmei Li, Alexandre Chan, Mikael Hartman","doi":"10.1007/s12687-024-00735-6","DOIUrl":"10.1007/s12687-024-00735-6","url":null,"abstract":"A breast cancer risk assessment tool for Asian populations, incorporating Polygenic Risk Score and Gail Model algorithm, has been established and validated. However, effective methods for delivering personalized risk information remain underexplored. This study aims to identify and develop effective methods for conveying breast cancer risk information to Asian women. Through ten focus group discussions with 32 women in Indonesia and Singapore, we explored preferences for the presentation of risk information. Participants favored comprehensive reports featuring actionable steps, simplified language, non-intimidating visuals, and personalized risk reduction recommendations. Singaporean participants, more aware of breast cancer prevention, showed a lower likelihood of seeking follow-ups upon receiving low-risk results compared to Indonesians. Overall, participants found the reports useful and advocated for similar approaches in other disease assessments. Balancing content and complexity in reports is crucial, highlighting the need for improved patient understanding and engagement with healthcare providers. Future studies could explore physicians' roles in delivering personalized risk assessments for breast cancer prevention.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142336839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Barriers, motivators and strategies to increase participation in genetic research among Asian and Black families of autistic individuals. 提高亚裔和黑人自闭症患者家庭参与基因研究的障碍、动力和策略。

IF 1.5

Journal of Community Genetics Pub Date : 2024-10-01 Epub Date: 2024-08-13 DOI: 10.1007/s12687-024-00724-9

Maira Tafolla, Raquel Amador, Motunrayo J Oyeyemi, Zach Algaze, Juhi Pandey, Robin P Goin-Kochel, Dustin E Sarver, Amanda Gulsrud

{"title":"Barriers, motivators and strategies to increase participation in genetic research among Asian and Black families of autistic individuals.","authors":"Maira Tafolla, Raquel Amador, Motunrayo J Oyeyemi, Zach Algaze, Juhi Pandey, Robin P Goin-Kochel, Dustin E Sarver, Amanda Gulsrud","doi":"10.1007/s12687-024-00724-9","DOIUrl":"10.1007/s12687-024-00724-9","url":null,"abstract":"Genetic research can help advance our knowledge of autism and positively impact the progress of care for individuals with autism. Asian American and Pacific Islander (AAPI) and Black participants remain significantly underrepresented in genetic research in autism in the United States, including nationwide, multisite, genetic consortiums like Simons Foundation Powering Autism Research for Knowledge (SPARK). Few studies have explored the unique motivators and barriers that influence participation in genetics research across underrepresented groups with autism and strategies to increase participation. Therefore, the aim of this study was to understand the perspectives of AAPI and Black parents of individuals with autism about participating in genetic research, specifically motivators (e.g., desire to know more about the relationship between autism and genetics) and/or barriers (e.g., mistrust of research staff) that may impact their decision to participate in genetic research. Using a mixed-methods approach, we collected surveys (n = 134) across the United States and conducted three focus groups with parents of individuals with autism (n = 16) who identified as AAPI and Black from two large metropolitan cities. No significant differences were observed in the survey data but findings from the focus groups elucidate shared motivators for participation (e.g., to help advance the autism field for future generations) and nuanced differences in barriers that influence Black and AAPI parents' decision to participate (e.g., different beliefs about the source of autism). Practical suggestions to improve outreach and study engagement in genetic research in autism were identified and discussed.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141972094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Correction: Improving the communication of multifactorial cancer risk assessment results for different audiences: a co-design process. 更正：针对不同受众改进多因素癌症风险评估结果的传播：共同设计过程。

IF 1.5

Journal of Community Genetics Pub Date : 2024-10-01 DOI: 10.1007/s12687-024-00745-4

Francisca Stutzin Donoso, Tim Carver, Lorenzo Ficorella, Nichola Fennell, Antonis C Antoniou, Douglas F Easton, Marc Tischkowitz, Fiona M Walter, Juliet A Usher-Smith, Stephanie Archer

引用次数: 0

The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil). 地理和社会人口因素对粘多糖病特征的重要性：塞阿拉州（巴西东北部）的病例系列。

IF 1.5

Journal of Community Genetics Pub Date : 2024-10-01 Epub Date: 2024-08-19 DOI: 10.1007/s12687-024-00718-7

Augusto César Cardoso-Dos-Santos, Luiza Monteavaro Mariath, Franciele Trapp, Ana Carolina Brusius Facchin, Sandra Leistner, Francyne Kubaski, Roberto Giugliani, Lavinia Schuler-Faccini, Erlane Marques Ribeiro

{"title":"The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil).","authors":"Augusto César Cardoso-Dos-Santos, Luiza Monteavaro Mariath, Franciele Trapp, Ana Carolina Brusius Facchin, Sandra Leistner, Francyne Kubaski, Roberto Giugliani, Lavinia Schuler-Faccini, Erlane Marques Ribeiro","doi":"10.1007/s12687-024-00718-7","DOIUrl":"10.1007/s12687-024-00718-7","url":null,"abstract":"Geographic and sociodemographic aspects may influence the natural history and epidemiology of mucopolysaccharidoses (MPS). The main objective in this work was to evaluate the clinical, molecular, and geographic profile of MPS in a population from Ceará (Northeast Brazil). For this, we have performed a descriptive cross-sectional study based on clinical evaluation, interviews with patients and/or family members, and review of medical records of 76 MPS patients. MPS II was the most common type, with the most affected individuals presenting missense pathogenic variants. Patients with MPS I proved to be the most severe clinical phenotype, presenting the first symptoms (mean: 7.1 months; SD = 4.5) and being diagnosed earlier (2.2 years; SD = 2.1) in comparison with the other types. In addition, we have shown that 13 individuals with MPS VI were born of consanguineous marriages in small, nearby cities, in a place where geographical isolation, consanguinity, and clusters of genetic diseases were previously reported. Ten of these individuals (at least, seven different families) presented a rare pathogenic variant in the ARSB gene, c.1143-8T > G in homozygosity, previously reported only among Iberian and South American patients. The results presented here provide a comprehensive picture of MPS in an important state of the Brazilian Northeast, a region that concentrates many risk factors for rare genetic diseases, such as endogamy, inbreeding, and reproductive isolation. We discuss the possible evolutionary processes and biosocial dynamics that can help to explain this finding in terms of population medical genetics and public health.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142001013","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Research participant perceptions of personal utility in disclosure of individual research results from genomic analysis. 研究参与者对公开基因组分析个人研究成果的个人效用的看法。

IF 1.5

Journal of Community Genetics Pub Date : 2024-10-01 Epub Date: 2024-09-18 DOI: 10.1007/s12687-024-00734-7

Brenda Bogaert, Marie-Josée Crevier, Cindy Roth, Ralf J Jox, Gaia Barazzetti

{"title":"Research participant perceptions of personal utility in disclosure of individual research results from genomic analysis.","authors":"Brenda Bogaert, Marie-Josée Crevier, Cindy Roth, Ralf J Jox, Gaia Barazzetti","doi":"10.1007/s12687-024-00734-7","DOIUrl":"10.1007/s12687-024-00734-7","url":null,"abstract":"This article elaborates research participant perspectives on the communication of individual research results from genomic analyses. While most analyses focus on how to communicate results from the perspectives of clinicians or researchers, there is insufficient data on user perspectives and how this information may be used, valued, and interpreted by patients and their families. The concept of personal utility, which considers factors related to quality of life, including on how information may impact the person's future decisions, has been shown to be particularly relevant to understand research participant perspectives and to move beyond clinical and analytic utility factors such as mortality and morbidity. This article draws from qualitative research of research participants awaiting genomic results in the case of sudden cardiac death. Our results show perspectives of personal utility in communication of genomic results, including cognitive, behavioral, and affective outcomes. Cognitive outcomes include gain of information, improved knowledge of etiology and inheritance characteristics, and curiosity for what might be found. Behavioral outcomes include being able to plan life decisions, while affective outcomes include various coping strategies used. We will also discuss the value of knowing negative results and incidental findings from the research participant's perspective. This contribution gives suggestions on best practices to guide genome analysis returns, including incorporating participant wishes on individualized communication at the consent stage; developing relational autonomy approaches; and engaging them throughout the research trajectory.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142298430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Knowledge, attitudes, and practices of primary healthcare practitioners in low- and middle-income countries: a scoping review on genetics. 中低收入国家初级保健从业人员的知识、态度和实践：遗传学范围界定综述。

IF 1.5

Journal of Community Genetics Pub Date : 2024-10-01 Epub Date: 2024-08-09 DOI: 10.1007/s12687-024-00721-y

Sarah Walters, Colleen Aldous, Helen Malherbe

{"title":"Knowledge, attitudes, and practices of primary healthcare practitioners in low- and middle-income countries: a scoping review on genetics.","authors":"Sarah Walters, Colleen Aldous, Helen Malherbe","doi":"10.1007/s12687-024-00721-y","DOIUrl":"10.1007/s12687-024-00721-y","url":null,"abstract":"Individualised treatment, including genetic services, calls for an increased role of primary healthcare practitioners (pHCPs) in diagnosing and caring for individuals with genetic conditions. PHCPs' genetics knowledge and practices must be current to ensure adequate care. A scoping review was conducted to explore peer-reviewed articles on the knowledge, attitudes, and practices (KAPs) of pHCPs concerning genetics, genetic testing, and genetic services. English-language human genetics/genomics articles published between January 1990 and April 2022 in low- and middle-income countries (LMICs) were included. Twenty-eight articles from 16 LMICs in five World Health Organisation (WHO)-defined regions met the inclusion criteria and showed a steady increase in publications, with varied contributions by region. The Eastern Mediterranean Region (EMR) contributed the most articles (n = 8), while the Western Pacific Region (WPR) had the least (n = 2). Brazil published the most articles (n = 6), while ten countries contributed one article each. Fifteen articles included knowledge, 19 included attitudes towards genetics, and eight included genetic practices. The findings indicate that pHCPs in LMICs lack knowledge of genetics and its applications despite their positive outlook towards genetic services. Barriers such as limited resources, financial constraints, and cultural or religious beliefs hinder access to genetic services. Enhancing pHCPs' genetics education is vital for improving care for those affected by genetic conditions. The scarcity of literature in LMICs emphasises the need for research on educational interventions to improve patient outcomes and family support.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141907977","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Raising awareness and education of genetic testing and counseling through fotonovelas among Latina women at risk for hereditary breast and ovarian cancer. 通过摄影小说，提高有遗传性乳腺癌和卵巢癌风险的拉丁裔妇女对基因检测和咨询的认识，并对她们进行这方面的教育。

IF 1.5

Journal of Community Genetics Pub Date : 2024-10-01 Epub Date: 2024-09-06 DOI: 10.1007/s12687-024-00728-5

Rolando Barajas, Clara B Barajas, Yaideliz M Romero Ramos, Sara Gómez Trillos, Sabrina Sawhney, Claudia Campos, Alejandra Hurtado-de-Mendoza, Melissa Rotunno, Elizabeth Gillanders

{"title":"Raising awareness and education of genetic testing and counseling through fotonovelas among Latina women at risk for hereditary breast and ovarian cancer.","authors":"Rolando Barajas, Clara B Barajas, Yaideliz M Romero Ramos, Sara Gómez Trillos, Sabrina Sawhney, Claudia Campos, Alejandra Hurtado-de-Mendoza, Melissa Rotunno, Elizabeth Gillanders","doi":"10.1007/s12687-024-00728-5","DOIUrl":"10.1007/s12687-024-00728-5","url":null,"abstract":"Latinas are less likely to receive genetic counseling and genetic testing (GCT) compared to non-Latina Whites because of systemic and patient-level barriers. We developed and tested fotonovelas to increase awareness of GCT among Latinas at-risk of hereditary breast and ovarian cancer (HBOC). Content for the fotonovelas was drawn from an existing culturally targeted narrative video focused on improving GCT use among Latinas at-risk of HBOC. Using mixed methods, we interviewed cancer patients (n = 10) and their relatives (n = 10) to assess the preliminary efficacy of the fotonovelas through pre-and post-fotonovela items assessing self-rated knowledge of GCT and willingness to discuss cancer with family. Health workers (n = 10) provided feedback on the fotonovela content. McNemar's test was used to examine differences in the proportions of the outcomes pre- and post-fotonovelas. Interviews were transcribed and coded in Dedoose using a consensual qualitative research approach. Reading the fotonovelas increased self-rated knowledge of GCT by 22% (p = 0.16), from 50 to 60% in patients and from 63 to 100% among relatives. Analogously, reading the fotonovela increased willingness to talk about cancer with family by 33% (p = 0.02), from 70 to 100% in patients and from 38 to 75% in relatives. We identified six themes, some centered around the fotonovela's message, feedback, and perceived barriers to GCT. Overall, participants liked the use of fotonovelas to increase GCT awareness and cancer conversations with family. Fotonovelas could potentially be used as educational tools to increase GCT awareness and cancer conversations among Latino families at-risk of HBOC.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142141381","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic testing perspectives in Pakistani population: a survey on knowledge, attitudes, awareness, and concerns. 巴基斯坦人对基因检测的看法：一项关于知识、态度、认识和担忧的调查。

IF 1.5

Journal of Community Genetics Pub Date : 2024-10-01 DOI: 10.1007/s12687-024-00719-6

Mohammad Uzair, Rida Fatima, Shafia Rafiq, Maimoona Jabeen, Hammad Qaiser, Muhammad Arshad, Shahid Bashir

{"title":"Genetic testing perspectives in Pakistani population: a survey on knowledge, attitudes, awareness, and concerns.","authors":"Mohammad Uzair, Rida Fatima, Shafia Rafiq, Maimoona Jabeen, Hammad Qaiser, Muhammad Arshad, Shahid Bashir","doi":"10.1007/s12687-024-00719-6","DOIUrl":"https://doi.org/10.1007/s12687-024-00719-6","url":null,"abstract":"A higher rate of consanguineous marriages is associated with the increasing prevalence of genetic disorders, imposing a significant burden on families, public health, and healthcare systems. Genetic testing facilitates the earlier detection of disease and personalized treatment approaches. Therefore, this study aims to assess knowledge, awareness, attitudes, and concerns regarding genetic testing in the Pakistani population. Participants (n = 494) were asked about factors that influence attitudes toward undergoing genetic testing. Furthermore, the study also investigates the concerns and reservations held by the Pakistani population regarding genetic testing. Participants indicated that consanguineous marriages lead to an increased risk of hereditary disorders and agreed that knowledge of genetic diseases can improve the quality of life. Almost 80% of the respondents know the term, and the majority of them know about genetic testing. 87.7% of respondents agreed to genetic screening before marriage, and 39.9% were willing to undergo genetic testing. More knowledge was significantly associated with a higher likelihood of accepting genetic testing, indicating potential acceptance if integrated into standard procedures. Those with a family history of genetic disorders were more positive in accepting genetic testing. The level of understanding regarding genetic testing also influences the concerns. Cultural or religious beliefs may also affect the decision to accept genetic testing. The survey reveals diverse opinions and knowledge levels regarding genetic testing in Pakistan. While there was generally positive interest, concerns about privacy, accuracy, and cultural factors should be addressed. Education and awareness campaigns could help improve understanding and acceptance.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142336836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The mentee report: outcomes from implementing a mentorship program for international genetic counseling applicants. 被指导者报告：为国际遗传咨询申请者实施指导计划的成果。

IF 1.5

Journal of Community Genetics Pub Date : 2024-10-01 Epub Date: 2024-09-09 DOI: 10.1007/s12687-024-00730-x

Arpita Neogi, Smita K Rao, Grace Kavanaugh, Tanaya Shroff, Jennifer Kennedy, Michelle F Jacobs

{"title":"The mentee report: outcomes from implementing a mentorship program for international genetic counseling applicants.","authors":"Arpita Neogi, Smita K Rao, Grace Kavanaugh, Tanaya Shroff, Jennifer Kennedy, Michelle F Jacobs","doi":"10.1007/s12687-024-00730-x","DOIUrl":"10.1007/s12687-024-00730-x","url":null,"abstract":"The first genetic counseling (GC) graduate training program was established in the United States (U.S.) in 1969 and GC is an emerging field of healthcare in many countries. Each year, at least 7% of applicants to U.S.-based GC graduate programs come from countries outside the U.S. (\"international GC applicants''). To address the unique needs of international GC applicants, volunteers from the International Special Interest Group (ISIG) of the National Society of Genetic Counselors (NSGC) launched a semi-structured mentorship program (the \"International Genetic Counseling Mentorship Program'' (IGCMP)) in 2021, which provides individualized mentorship and optional group activities for networking and learning. Fifty-two people from 19 countries signed up for the IGCMP across three application cycles. Of these, 47 were eligible to participate as mentees, and most were interested in one-on-one virtual meetings with international GCs in the U.S. (n = 41/47, 87.2%). An assessment form was sent to 17 mentees who applied to GC graduate school after participating in the first or second cycle of the IGCMP. Of the 12 responses received, 10 (83.3%) reported being extremely satisfied with their individual mentor(s), and the one-on-one meeting with a mentor was considered helpful to both the application and interview process by nine (75.0%) respondents. Importantly, feedback about program improvement revealed an interest in connecting with additional international applicants and mentors and all respondents expressed interest in receiving mentorship throughout graduate school. Future directions include collaborating with other mentorship and graduate programs to further enhance support for international applicants.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142156324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0