Article
Genetics & Heredity
Zhang Chuan, Cai Ruikun, Li Qian, Mei Shiyue, Hao Shengju, Yuan Yong, Li Haibo, Xiao Neng, Zhao Yong, Xue Huiqin, Wang Weijia, Hui Ling, Zhou Bingbo, Qinghua Zhang, Wang Yan, Cao Zongfu, Ma Xu
Summary: This study analyzed a Chinese cohort of infants and children with epilepsy to identify genetic and phenotype characteristics. Through whole exome sequencing, a genetic diagnosis was established in 135 out of 260 patients. The study identified 142 variants in 81 genes, of which 87 variants in 66 genes were novel.
FRONTIERS IN GENETICS
(2022)
Article
Clinical Neurology
Arthur Stefanski, Eduardo Perez-Palma, Tobias Bruenger, Ludovica Montanucci, Cornelius Gati, Chiara Kloeckner, Katrine M. Johannesen, Kimberly Goodspeed, Marie Macnee, Alexander T. Deng, Angel Aledo-Serrano, Artem Borovikov, Maina Kava, Arjan M. Bouman, M. J. Hajianpour, Deb K. Pal, Marc Engelen, Eveline E. O. Hagebeuk, Marwan Shinawi, Alexis R. Heidlebaugh, Kathryn Oetjens, Trevor L. Hoffman, Pasquale Striano, Amanda S. Freed, Line Futtrup, Thomas Balslev, Anna Abuli, Leslie Danvoye, Damien Lederer, Tugce Balci, Maryam Nabavi Nouri, Elizabeth Butler, Sarah Drewes, Kalene van Engelen, Katherine B. Howell, Jean Khoury, Patrick May, Marena Trinidad, Steven Froelich, Johannes R. Lemke, Jacob Tiller, Amber N. Freed, Jing-Qiong Kang, Arthur Wuster, Rikke S. Moller, Dennis Lal
Summary: Genetic variants in the SLC6A1 gene can cause a broad spectrum of phenotypic diseases by altering the protein function. Through the aggregation of genetic and clinical data, as well as functional data, the study found potential associations between variant positions on the GAT1 3D structure, variant pathogenicity, altered molecular function, and phenotype severity.
Article
Genetics & Heredity
Maia Leigh Norman, Janet Malcolmson, Susan Randall Armel, Brittany Gillies, Brian Ou, Emily Thain, Jeanna Marie McCuaig, Raymond H. Kim
Summary: The COVID-19 pandemic has accelerated the adoption of virtual genetics services, as shown by a retrospective review of Canada's largest cancer center. The study found that virtual care maintained the number of appointments and new patients, but resulted in a decrease in referral volumes and genetic testing uptake.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Genetics & Heredity
Catherine Speechly, Rachael Stenhouse, Yemima Berman, Kristine Barlow-Stewart, Jane Fleming, Dianne Petrie, Bronwyn Culling
Summary: The Genetic Information System (GIS) in Australia is a database used by clinical genetics services for over a decade. Through interviews with genetic counselors and focus groups with patients and carers, it was found that shared information is valuable and there is a perceived need for the GIS to be current and integrated with other health systems. Participants expressed concerns about inconsistent data entry and a desire for better patient/carer education on the GIS.
JOURNAL OF GENETIC COUNSELING
(2021)
Review
Cardiac & Cardiovascular Systems
Amy R. Kontorovich
Summary: Patients and families benefit from a multidisciplinary approach, including genetic counseling and genetic testing, to identify the genetic causes of cardiomyopathy. Genetic testing is most effective when performed on individuals with clear symptoms and targets specific genes associated with the specific form of cardiomyopathy. Variants of uncertain significance are common and should be interpreted with caution. Identifying impactful genetic variants can have important prognostic implications and aid in testing at-risk relatives. Personalized treatment approaches may be necessary based on specific genotypes and associated risk factors.
JACC-HEART FAILURE
(2023)
Article
Clinical Neurology
Rachel Saunders-Pullman, Deborah Raymond, Roberto A. Ortega, Ali Shalash, Emilia Gatto, Mehri Salari, Maggie Markgraf, Roy N. Alcalay, Deborah Mascalzoni, Niccolo E. Mencacci, Vincenzo Bonifati, Marcelo Merello, Sun Ju Chung, Ivana Novakovic, Soraya Bardien, Gian Pal, Anne Hall, Nobutaka Hattori, Timothy Lynch, Avner Thaler, Carolyn M. Sue, Tatiana Foroud, Jennifer Verbrugge, Jeanine Schulze, Lola Cook, Karen Marder, Oksana Suchowersky, Christine Klein, Tatyana Simuni
Summary: This study aims to determine the international landscape of genetic testing in Parkinson's disease (PD) and provide information for future global recommendations. The survey found common barriers such as cost and access to genetic testing and counseling, as well as the need for education on genetic counseling. Region-dependent differences were most notable in Africa, while high-income countries showed heterogeneity, with European nations more likely to have genetic testing covered through insurance than Pan-American and Asian countries. In conclusion, improving education and access to genetic counseling and testing for PD worldwide is highly needed.
MOVEMENT DISORDERS
(2023)
Article
Geography, Physical
Xicheng Tan, Jingguo Jiao, Nengcheng Chen, Fang Huang, Liping Di, Jinchuan Wang, Zongyao Sha, Jin Liu
Summary: This study proposes an integrated workflow-based rainstorm waterlogging analysis method, which reconstructs the waterlogging analysis model through different service invocation strategies and mechanisms. It can automatically integrate and compute geospatial data, models, and computing resources, demonstrating efficiency and flexibility.
INTERNATIONAL JOURNAL OF DIGITAL EARTH
(2021)
Review
Genetics & Heredity
Whiwon Lee, Salma Shickh, Daniel Assamad, Stephanie Luca, Marc Clausen, Cherith Somerville, Abby Tafler, Angela Shaw, Robin Hayeems, Yvonne Bombard
Summary: This study systematically reviewed the literature to examine the impact of digital genetics tools on patient care and system efficiencies. The results showed that digital tools had positive outcomes in various patient outcomes and improved workflow for providers. However, there were some limitations identified, such as the misalignment between study purpose and patient-reported outcomes and the lack of comprehensive tools for the entire genetic counselling and testing trajectory.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Limin Hao, Peter Kraft, Gabriel F. Berriz, Elizabeth D. Hynes, Christopher Koch, Prathik Kumar, Shruti S. Parpattedar, Marcie Steeves, Wanfeng Yu, Ashley A. Antwi, Charles A. Brunette, Morgan Danowski, Manish K. Gala, Robert C. Green, Natalie E. Jones, Anna C. F. Lewis, Steven A. Lubitz, Pradeep Natarajan, Jason L. Vassy, Matthew S. Lebo
Summary: The first report from the GenoVA Study provides insights into the development of a clinical polygenic risk score assay and discusses the challenges of implementing and reporting the results. The study developed a clinical genotype array-based assay for multiple conditions and analyzed prospective samples to determine the frequency of high-risk polygenic risk scores. The research highlights the importance of developing resources and workflows for using polygenic risk score information in patient care.
Review
Genetics & Heredity
Adrina Zhong, Benedict Darren, Bethina Loiseau, Li Qun Betty He, Trillium Chang, Jessica Hill, Helen Dimaras
Summary: The systematic review highlighted complex ethical, cultural, and social issues associated with genetic services in low- and middle-income countries, with implications for the further development of such services in these regions.
GENETICS IN MEDICINE
(2021)
Article
Psychology, Developmental
Anna Hellquist, Kristiina Tammimies
Summary: The awareness and access to clinical genetic testing after autism spectrum disorder diagnosis are low in Sweden. Only a small percentage of autistic individuals receive referral for clinical genetic testing. Those who are referred tend to be younger at diagnosis, and more likely to have additional neurodevelopmental diagnoses such as intellectual disability and language disorder. The preferred means of communication about clinical genetic testing among respondents are written text and expert consultation. There is a need for further studies to assess the utilization and access rates in different countries.
Article
Critical Care Medicine
Chad A. Newton, Justin M. Oldham, Carolyn Applegate, Nikkola Carmichael, Karen Powell, Dan Dilling, Shelley L. Schmidt, Mary Beth Scholand, Mary Armanios, Christine Kim Garcia, Jonathan A. Kropski, Janet Talbert
Summary: Patients with familial pulmonary fibrosis have inherited gene variation that predisposes them to the disease, and genetic testing can provide personalized assessment, recognition of clinically relevant manifestations, and evaluation of susceptibility in unaffected relatives. However, the current use of genetic testing lacks consistency and guidance on high-yield scenarios.
Article
Genetics & Heredity
Michael H. Guo, Tanya M. Bardakjian, Morgan R. Brzozowski, Steven S. Scherer, Colin Quinn, Lauren Elman, Jennifer Orthmann-Murphy, Thomas F. Tropea, Colin A. Ellis, Pedro Gonzalez-Alegre
Summary: Genetics evaluation is increasingly used in adult neurology patients, but its utilization and effectiveness are not well characterized. Our study of 1461 patients in an adult neurogenetics clinic showed that genetic testing yielded a causal genetic diagnosis in 30.7% of patients, with higher rates in certain diagnostic categories such as neuromuscular and epilepsy. Further research is needed to determine optimal genetic testing strategies and cost effectiveness in adult neurogenetics evaluation.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Oncology
Cara N. Cacioppo, Brian L. Egleston, Dominique Fetzer, Colleen Burke Sands, Syeda A. Raza, Neeraja Reddy Malleda, Elisabeth McCarty Wood, India Rittenburg, Julianne Childs, David Cho, Martha Hosford, Tina Khair, Jamil Khatri, Lydia Komarnicky, Trina Poretta, Fahd Rahman, Satish Shah, Linda J. Patrick-Miller, Susan M. Domchek, Angela R. Bradbury
Summary: The study found that telehealth can increase the uptake of genetic counseling and testing at oncology practices without genetic counselors, potentially improving the identification of genetic carriers and cancer prevention outcomes.
Review
Medicine, Research & Experimental
Nikola Serman, Semir Vranic, Mislav Glibo, Ljiljana Serman, Zrinka Bukvic Mokos
Summary: Melanoma is an aggressive cancer associated with genetic, epigenetic, and environmental factors. Hereditary melanoma is caused by specific gene mutations, while environmental factors also play a role. Genetic counseling and regular skin examinations can help with early detection and improve survival rates.
BOSNIAN JOURNAL OF BASIC MEDICAL SCIENCES
(2022)