Genetics in Medicine Open最新文献

{"title":"P061: Inherited genetic markers for temporomandibular disorder (TMD) pain in polycystic ovary syndrome: Identifying novel therapeutic targets","authors":"Janani Dakshina Moorthy , Vaishnavi Prabhakar , Priyanka Kodaganallur Pitchumani , Davis Thomas","doi":"10.1016/j.gimo.2024.100938","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100938","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100938"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000840/pdfft?md5=06059d62bc19f5690bab204aa7f130e9&pid=1-s2.0-S2949774424000840-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061958","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P068: Withdrawn","authors":"","doi":"10.1016/j.gimo.2024.100950","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100950","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100950"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000967/pdfft?md5=56e83007af27906a2c49f85cd80daed1&pid=1-s2.0-S2949774424000967-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140062041","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P084: Clinical integration of potential germline findings from a tumor testing precision medicine program","authors":"Maria Carolina Sanabria-Salas , Nina Anggala , Brittany Gillies , Helia Purnaghshband , Kirsten Farncombe , Larissa Peck , Laura Redondo , Peter Sabatini , Renee Hofstedter , Philippe Bedard , Raymond Kim","doi":"10.1016/j.gimo.2024.100966","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100966","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100966"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424001122/pdfft?md5=3e88bbf1e0b3e2603042e4dc0075b8e3&pid=1-s2.0-S2949774424001122-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140062087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P029: Early treatment with alglucosidase alfa is associated with improved survival in patients with infantile-onset Pompe disease: Data from Pompe Registry","authors":"Priya Kishnani , David Stockton , Andreas Hahn , Juan Llerena , Alexander Broomfield , Julie Batista , Meredith Foster , Kathryn Wilson , Susan Sparks , Hannerieke van den Hout , Yin-Hsiu Chien","doi":"10.1016/j.gimo.2024.100906","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100906","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100906"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000529/pdfft?md5=729a1765bb9c2cc068743b727f0c7b6b&pid=1-s2.0-S2949774424000529-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140062147","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P055: Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency presenting with involuntary choreiform movements and dystonia","authors":"Mayowa Osundiji , Radhika Dhamija","doi":"10.1016/j.gimo.2024.100932","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100932","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100932"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000785/pdfft?md5=568db9872e5694fd071dcd79bd77cc45&pid=1-s2.0-S2949774424000785-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140062149","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P085: Addition of new variant classes to the CIViC data model","authors":"Arpad Danos , Kilannin Krysiak , Jason Saliba , Adam Coffman , Susanna Kiwala , Joshua McMichael , Cameron Grisdale , Mariam Khanfar , Malachi Griffith , Obi Griffith","doi":"10.1016/j.gimo.2024.100967","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100967","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100967"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424001134/pdfft?md5=e6aefb4b028e2abd27b43ac0464b14be&pid=1-s2.0-S2949774424001134-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140062528","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Using visual storytelling to share aggregate findings with families participating in clinical genomics research","authors":"Astrid N. Zamora ,&nbsp;Julia E.H. Brown ,&nbsp;Simon Outram ,&nbsp;Sara L. Ackerman","doi":"10.1016/j.gimo.2024.101844","DOIUrl":"10.1016/j.gimo.2024.101844","url":null,"abstract":"<div><h3>Purpose</h3><p>Sharing aggregate results with research participants is a widely agreed-upon ethical obligation; yet, there is little research on communicating study results to diverse populations enrolled in genomics research. This article describes the cocreation of a visual narrative to explain research findings to families enrolled in a clinical genomics research study.</p></div><div><h3>Methods</h3><p>The design process involved researchers, clinicians, study participants, a physician illustrator, and a health communications expert. Drawing on themes identified in interviews with participating families, the team developed a story and comic about a fictional family participating in genomic research in the hopes of finding an explanation for their child’s condition.</p></div><div><h3>Results</h3><p>Design adjustments to improve the clarity and relatability of the story and accompanying images were prompted by feedback from study participants, who showed a high degree of interest in and support for the project. Spanish and English versions of the final comic book were distributed to study participants, and the feedback received was positive.</p></div><div><h3>Conclusion</h3><p>Our project highlights the feasibility of using visual storytelling to convey genomic research findings to socioeconomically diverse participants. A participatory design process enhances the relevance and relatability of results sharing materials and demonstrates respect for those who contribute to clinical genomics research.</p></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 101844"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424009907/pdfft?md5=ff6e671028f4678a0fcc88e3d4a07bd9&pid=1-s2.0-S2949774424009907-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140780623","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A genome-first approach to characterize DICER1 pathogenic variant prevalence, penetrance and cancer, thyroid, and other phenotypes in 2 population-scale cohorts","authors":"Jung Kim ,&nbsp;Jeremy Haley ,&nbsp;Jessica N. Hatton ,&nbsp;Uyenlinh L. Mirshahi ,&nbsp;H. Shanker Rao ,&nbsp;Mark F. Ramos ,&nbsp;Diane Smelser ,&nbsp;Gretchen M. Urban ,&nbsp;Kris Ann P. Schultz ,&nbsp;David J. Carey ,&nbsp;Douglas R. Stewart","doi":"10.1016/j.gimo.2024.101846","DOIUrl":"10.1016/j.gimo.2024.101846","url":null,"abstract":"<div><h3>Purpose</h3><p>Population-scale, exome-sequenced cohorts with linked electronic health records (EHR) permit genome-first exploration of phenotype. Phenotype and cancer risk are well characterized in children with a pathogenic <em>DICER1</em> (HGNC ID:17098) variant. Here, the prevalence, penetrance, and phenotype of pathogenic germline <em>DICER1</em> variants in adults were investigated in 2 population-scale cohorts.</p></div><div><h3>Methods</h3><p>Variant pathogenicity was classified using published <em>DICER1</em> ClinGen criteria in the UK Biobank (469,787 exomes; unrelated: 437,663) and Geisinger (170,503 exomes; unrelated: 109,789) cohorts. In the UK Biobank cohort, cancer diagnoses in the EHR, cancer, and death registry were queried. For the Geisinger cohort, the Geisinger Cancer Registry and EHR were queried.</p></div><div><h3>Results</h3><p>In the UK Biobank, there were 46 unique pathogenic <em>DICER1</em> variants in 57 individuals (1:8242; 95% CI: 1:6362-1:10,677). In Geisinger, there were 16 unique pathogenic <em>DICER1</em> variants (including 1 microdeletion) in 21 individuals (1:8119; 95% CI: 1:5310-1:12,412). Cohorts were well powered to find larger effect sizes for common cancers. Cancers were not significantly enriched in <em>DICER1</em> heterozygotes; however, there was a ∼4-fold increased risk for thyroid disease in both cohorts. There were multiple ICD10 codes enriched &gt;2-fold in both cohorts.</p></div><div><h3>Conclusion</h3><p>Estimates of pathogenic germline <em>DICER1</em> prevalence, thyroid disease penetrance, and cancer phenotype from genomically ascertained adults are determined in 2 large cohorts.</p></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 101846"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424009920/pdfft?md5=ec1f8665d7feba23fb4ebfab7683aa54&pid=1-s2.0-S2949774424009920-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140782257","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A mixed-methods assessment of the Australasian Society of Genetic Counselors (ASGC) Mentor Program","authors":"Holly Canton ,&nbsp;Rebecca Macintosh ,&nbsp;Joanna Sweeting ,&nbsp;Helen Mountain ,&nbsp;Jodie Ingles ,&nbsp;Amy Nisselle ,&nbsp;Erin Turbitt ,&nbsp;Alison McEwen ,&nbsp;Laura Yeates","doi":"10.1016/j.gimo.2024.101865","DOIUrl":"10.1016/j.gimo.2024.101865","url":null,"abstract":"<div><h3>Purpose</h3><div>In Australia and New Zealand, one third of genetic counselors have less than 5 years’ experience. Sharing experienced practitioners’ professional knowledge is needed as the profession grows. Formal mentoring is an important facilitator of career progression and shared knowledge. In 2022, the Australasian Society of Genetic Counselors developed a 6-month mentor program, matching mentees with experienced genetic counselors (&gt;10 years). We aimed to evaluate and assess the overall satisfaction and acceptability of the program, the matching process, and barriers to participation.</div></div><div><h3>Methods</h3><div>We used an explanatory mixed-method design with cross-sectional surveys deployed at baseline and follow-up and opt-in semi-structured interviews. Interview transcripts were analyzed using codebook thematic analysis, and data were integrated in a narrative approach.</div></div><div><h3>Results</h3><div>Fifteen mentors and 15 mentees (<em>N</em> = 30) from 17 dyads were included in the analysis (response rate 83%). Eighteen completed the postprogram survey, and 12 were interviewed. The majority were female (93%), European (90%), and worked clinically in public hospitals (63%). Mentors’ main reason for participating was “to give back to the next generation,” whereas mentees sought “help with career progression.” Time was a barrier to participating. The majority (89%) achieved their goals, and all participants would recommend the program. Most (61%) found the mentor/mentee matching to be excellent, and 44% believed they would continue the relationship after the program.</div></div><div><h3>Conclusion</h3><div>The Australasian Society of Genetic Counselors Mentor Program filled a gap in professional development within the Australian and New Zealand genetic counseling community and highlighted a general desire to share knowledge with new members of the profession.</div></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 101865"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141706729","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cancer genetic counseling in Chile: Addressing barriers, confronting challenges, and seizing opportunities in an underserved Latin American Community","authors":"Ricardo Fernández-Ramires ,&nbsp;Sebastián Morales-Pison ,&nbsp;Guilherme Gischkow Rucatti ,&nbsp;César Echeverría ,&nbsp;Esteban San Martín ,&nbsp;Francisco Cammarata-Scalisi ,&nbsp;Alexis Salas-Burgos ,&nbsp;Daniela Adorno-Farias ,&nbsp;Wilfredo Alejandro González-Arriagada ,&nbsp;Yolanda Espinosa-Parrilla ,&nbsp;Daniela Zapata-Contreras ,&nbsp;Gabriela Norese ,&nbsp;Conxi Lázaro ,&nbsp;Sara González ,&nbsp;Miguel Angel Pujana ,&nbsp;Yasser Sullcahuaman ,&nbsp;Sonia Margarit","doi":"10.1016/j.gimo.2024.101898","DOIUrl":"10.1016/j.gimo.2024.101898","url":null,"abstract":"<div><h3>Purpose</h3><div>Despite the rapid advancements in genomics and the enactment of a new cancer law in Chile, the implementation of cancer genetic counseling continues to face significant challenges because of limited resources and infrastructure.</div></div><div><h3>Methods</h3><div>We conducted a survey targeting health care providers who offer genetic counseling to patients with cancer and possess training in genetics and counseling. Additionally, we distributed a separate survey to high-risk patients associated with an advocacy group to gather insights on their perceptions of and experiences with cancer genetic counseling.</div></div><div><h3>Results</h3><div>Among the surveyed providers, 21% were nonmedical professionals who developed their skills through postgraduate continuing education programs. Germline testing was not performed in 47% of cases. Among the participants, 37% considered genetic counseling important for understanding the cause of their cancer, 25% valued knowing their risk of developing future tumors, and 33% believed it would benefit their current cancer treatment. Just over half of the patients (54%) had access to genetic counseling. Among those that received genetic counseling, 85% found it beneficial.</div></div><div><h3>Conclusion</h3><div>In Chile, barriers to genetic counseling persist, particularly in rural areas and because of a shortage of trained professionals. Public policies recognizing genetic counseling’s importance are crucial, along with expanding training and infrastructure. Understanding patient perceptions and increasing the number of trained genetic counseling into cancer care, educating clinicians, and advocating for increased access are key steps for enhancing cancer treatment effectiveness in Chile.</div></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 101898"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11658315/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142879381","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}