Genetics in Medicine Open最新文献

{"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}

{"title":"Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders","authors":"Harriet Copeland ,&nbsp;Karen J. Low ,&nbsp;Sarah L. Wynn ,&nbsp;Ayesha Ahmed ,&nbsp;Victoria Arthur ,&nbsp;Meena Balasubramanian ,&nbsp;Katya Bennett ,&nbsp;Jonathan Berg ,&nbsp;Marta Bertoli ,&nbsp;Lisa Bryson ,&nbsp;Catrin Bucknall ,&nbsp;Jamie Campbell ,&nbsp;Kate Chandler ,&nbsp;Jaynee Chauhan ,&nbsp;Amy Clarkson ,&nbsp;Rachel Coles ,&nbsp;Hector Conti ,&nbsp;Philandra Costello ,&nbsp;Tessa Coupar ,&nbsp;Amy Craig ,&nbsp;Caroline F. Wright","doi":"10.1016/j.gimo.2024.101864","DOIUrl":"10.1016/j.gimo.2024.101864","url":null,"abstract":"<div><h3>Purpose</h3><div>We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.</div></div><div><h3>Methods</h3><div>Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion (<em>n</em> = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.</div></div><div><h3>Results</h3><div>Outcomes were recorded for 4237 diagnosed probands (85% of those eligible) from all 24 recruiting centers across the United Kingdom and Ireland. Clinical management was reported to have changed in 28% of affected individuals. Where individual-level interventions were recorded, additional diagnostic or screening tests were started in 903 (21%) probands through referral to a range of different clinical specialties, and stopped or avoided in a further 26 (0.6%). Disease-specific treatment was started in 85 (2%) probands, including seizure-control medications and dietary supplements, and contra-indicated medications were stopped or avoided in a further 20 (0.5%). The option of prenatal/preimplantation genetic testing was discussed with 1204 (28%) families, despite the relatively advanced age of the parents at the time of diagnosis. Importantly, condition-specific information or literature was given to 3214 (76%) families, and 880 (21%) were involved in family support groups. In the most common condition (KBG syndrome; 79 [2%] probands), clinical interventions only partially reflected the temporal development of phenotypes, highlighting the importance of consensus management guidelines and patient support groups.</div></div><div><h3>Conclusion</h3><div>Our results underscore the importance of achieving a clinico-molecular diagnosis to ensure timely onward referral of patients, enabling appropriate care and anticipatory surveillance, and for accessing relevant patient support groups.</div></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 101864"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11736166/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019591","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":"Improvement of variant reclassification in genetic neurodevelopmental conditions","authors":"Michelle Kowanda ,&nbsp;Rebecca Sheedy Smith ,&nbsp;Jamie Lundy ,&nbsp;Catherine Kentros ,&nbsp;Elisheva Kleinman ,&nbsp;Lauren Kasparson Walsh ,&nbsp;Gerhard Schratt ,&nbsp;Cora M. Taylor ,&nbsp;Wendy K. Chung","doi":"10.1016/j.gimo.2024.101845","DOIUrl":"10.1016/j.gimo.2024.101845","url":null,"abstract":"<div><h3>Purpose</h3><p>Limited knowledge about disease mechanisms, few published cases, and the lack of functional assessment of variants for neurodevelopmental genetic disorders challenge diagnostic classification for variants and increase the frequency of variants of uncertain significance (VUS). Because inheritance patterns aid in variant interpretation for neurodevelopmental conditions, genetic testing including only the proband leads to larger numbers of VUS than testing strategies that include the parents.</p></div><div><h3>Methods</h3><p>We reinterpreted genetic variants submitted to the Simons Searchlight research registry using American College of Medical Genetics and Genomics variant interpretation guidelines, familial cascade testing, and literature curation with annual VUS reevaluation.</p></div><div><h3>Results</h3><p>Simons Searchlight has independently evaluated 2834 genetic laboratory reports; 20.4% of variants (1.7% copy-number variants and 18.7% monogenic variants) were reclassified with 230 upgrades and 173 downgrades in pathogenicity. Of 351 monogenic VUS on the original clinical test report, 25.4% were reclassified as likely pathogenic or pathogenic. VUS in <em>SCN2A</em>, <em>SLC6A1</em>, or <em>STXBP1</em> were more likely to have VUS reclassified compared with variants in other genes.</p></div><div><h3>Conclusion</h3><p>Regular reevaluation of neurodevelopmental genetic variants can be helpful because relevant variant reclassifications occur frequently and may affect clinical care. Simons Searchlight contributes to the international neurodevelopmental community by systematically reviewing uncertain variants annually and providing reclassified variants to participants, researchers, and ClinVar.</p></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 101845"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424009919/pdfft?md5=3965f328218a6fc7496de7c91098915d&pid=1-s2.0-S2949774424009919-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140777714","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":"P025: Characterization of a silent variant in a neonate with presentation of clinical variant classic galactosemia","authors":"Mari Mori ,&nbsp;April Lehman ,&nbsp;Mackenzie Marr ,&nbsp;Rebecca Youngs ,&nbsp;Kandamurugu Manickam","doi":"10.1016/j.gimo.2024.100902","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100902","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100902"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000487/pdfft?md5=89796efde2c6164573f5be79e0ca10f7&pid=1-s2.0-S2949774424000487-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061893","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":"P009: Insights from Georgia: Evaluating the outcomes of Pompe disease newborn screening*","authors":"Rana Aljaberi ,&nbsp;Angela Wittenauer ,&nbsp;Allison Foley ,&nbsp;Erin Kistenberg ,&nbsp;Kristen Murphey","doi":"10.1016/j.gimo.2024.100886","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100886","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100886"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000323/pdfft?md5=2debce3f9dd68de33ac4a16362a55891&pid=1-s2.0-S2949774424000323-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061948","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":"P011: Variant interpretation in functionally defined patients: Lessons from methionine synthase deficiency (cblG)","authors":"David Rosenblatt ,&nbsp;Caitlin Zacharias ,&nbsp;Kyana Arbabian ,&nbsp;David Watkins ,&nbsp;Jean-Baptiste Riviere ,&nbsp;Brian Gilfix ,&nbsp;Krithika Ragupathi","doi":"10.1016/j.gimo.2024.100888","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100888","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100888"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000347/pdfft?md5=f1cd601bcf86c327351c7bbc414492a9&pid=1-s2.0-S2949774424000347-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061950","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":"P019: Navigating the landscape of newborn screening for inborn errors of metabolism in Saudi Arabia: Challenges, achievements, and future prospects","authors":"Ibrahim Khoja","doi":"10.1016/j.gimo.2024.100896","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100896","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100896"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000426/pdfft?md5=771bf818170ff4c7e34b299be6358fda&pid=1-s2.0-S2949774424000426-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140062038","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":"O39: The ClinGen Lysosomal Diseases Variant Curation Expert Panel’s guidance on classification of IDUA variants for mucopolysaccharidosis type I","authors":"Jenny Goldstein ,&nbsp;Amber Waddell ,&nbsp;Carlos Aschoff ,&nbsp;Xiangwen Chen-Deutsch ,&nbsp;Matthew Ellinwood ,&nbsp;Roberto Mendez ,&nbsp;Raquel Fernandez ,&nbsp;Deeksha Bali ,&nbsp;Troy Lund ,&nbsp;Laura Pollard ,&nbsp;Richard Steet ,&nbsp;Filippo Pinto e Vairo ,&nbsp;Timothy Wood ,&nbsp;Lorne Clarke ,&nbsp;Catherine Rehder","doi":"10.1016/j.gimo.2024.100877","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100877","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100877"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000232/pdfft?md5=1923aa7e8260389d6dd1090f364d4640&pid=1-s2.0-S2949774424000232-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140062133","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":"P076: Implementing tumor-first genetic testing and parent-of-origin-aware genomic analysis into the diagnostic pipeline for hereditary breast cancer","authors":"Haojun Huang ,&nbsp;Alexandra Fok ,&nbsp;Tracy Tucker ,&nbsp;Stephen Yip ,&nbsp;Zuzana Kos ,&nbsp;Colin Mar ,&nbsp;Sophie Sun ,&nbsp;Kasmintan Schrader","doi":"10.1016/j.gimo.2024.100958","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100958","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100958"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424001043/pdfft?md5=00a496afc656f69ea233c4980c4a8b87&pid=1-s2.0-S2949774424001043-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140062154","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":"P043: Experiences with VLCADD in the Old Order Amish community","authors":"Rhonda Anderson ,&nbsp;Zineb Ammous ,&nbsp;Nicole Bertsch","doi":"10.1016/j.gimo.2024.100920","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100920","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100920"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000669/pdfft?md5=3030535f120596dc8cd3d9c1153720c6&pid=1-s2.0-S2949774424000669-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140062246","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}