Article
Medicine, General & Internal
Pat W. Whitworth, Peter D. Beitsch, Rakesh Patel, Barry Rosen, Gia Compagnoni, Paul L. Baron, Rache Simmons, Eric A. Brown, Linsey Gold, Dennis Holmes, Linda Ann Smith, Michael Kinney, Ian Grady, Patricia Clark, Karen Barbosa, Samuel Lyons, Lee Riley, Cynara Coomer, Lisa Curcio, Antonio Ruiz, Sadia Khan, Heather MacDonald, Kevin Hughes, Mary Kay Hardwick, Brandie Heald, Sandra B. Munro, Sarah M. Nielsen, Edward D. Esplin
Summary: This study examines the implications of universal testing for patients with breast cancer and finds that germline genetic testing informs clinical decision-making and provides access to targeted treatments and clinical trials for all patients with breast cancer.
Review
Clinical Neurology
Carolin A. M. Koriath, Joanna Kenny, Natalie S. Ryan, Jonathan D. Rohrer, Jonathan M. Schott, Henry Houlden, Nick C. Fox, Sarah J. Tabrizi, Simon Mead
Summary: Clinical genetic testing for dementia disorders has advanced rapidly, offering precise molecular diagnosis and options for affected families, but the complexity of the conditions requires careful consideration of appropriate testing methods based on clinical condition, family history, and age at onset.
NATURE REVIEWS NEUROLOGY
(2021)
Article
Biology
Zhaoqing Yang, Hao Chen, Yan Lu, Yang Gao, Hao Sun, Jiucun Wang, Li Jin, Jiayou Chu, Shuhua Xu
Summary: By analyzing the genetic data of ethnic minorities in Yunnan, we found significant genetic differences among these populations, providing new insights into their genetic history and local adaptation.
Article
Public, Environmental & Occupational Health
Rebecca Dimond, Shane Doheny, Lisa Ballard, Angus Clarke
Summary: This article explores the importance of family in the experience of genetic testing, arguing that understanding individuals' experiences of genetic diseases and their responses to genetic technologies requires considering the context in which they occur. By analyzing relevant literature and conducting interviews, the article finds that family plays a significant role in disclosure, gatekeeping, communication, and other aspects of individuals' genetic testing experiences. Lastly, the article examines the entanglement of family and genetics as a way to explain their complex connections.
SOCIAL SCIENCE & MEDICINE
(2022)
Article
Oncology
Elizabeth M. Swisher, Nadine Rayes, Deborah Bowen, Christine B. Peterson, Barbara M. Norquist, Tara Coffin, Kathleen Gavin, Deborah Polinsky, Jamie Crase, Jamie N. Bakkum-Gamez, Stephanie V. Blank, Mark F. Munsell, Denise Nebgen, Gini F. Fleming, Olufunmilayo I. Olopade, Sherman Law, Alicia Zhou, Douglas A. Levine, Alan D'Andrea, Karen H. Lu
Summary: The MAGENTA clinical trial found that omitting individualized genetic counseling during remote testing does not increase distress for participants, providing an alternative care model for genetic risk assessment.
Article
Biotechnology & Applied Microbiology
Yixin Zhang, James B. Meigs, Ching-Ti Liu, Josee Dupuis, Chloe Sarnowski
Summary: Considering family history may enhance the accuracy and power of CC-GWAS in detecting disease-associated genetic variants. The methods incorporating family history showed higher power than CC-GWAS, especially in older age groups. These methods detected known genetic variants and increased their significance in real data applications, demonstrating the importance of including family history in genetic association studies.
Review
Medical Laboratory Technology
Xavier Bossuyt
Summary: This paper reviews the detection methods and clinical associations of anti-DFS70 antibodies. The target antigen of these antibodies is a 70 kDa protein (DFS70) that causes the DFS pattern. Commercial methods are available for detecting antibodies to full-length or truncated DFS70 in clinical laboratories (ELISA, chemiluminescence, dot/line blot). Anti-DFS70 can be found in apparently healthy individuals, as well as in several inflammatory conditions and malignancy, but there is no well-established clinical association. The observation that monospecific anti-DFS70 is rarely found in ANA-associated rheumatic diseases is given special attention and critical reflection.
CLINICAL CHEMISTRY
(2023)
Article
Obstetrics & Gynecology
S. Caroselli, M. Figliuzzi, L. Picchetta, F. Cogo, P. Zambon, I Pergher, L. Girardi, C. Patassini, M. Poli, D. Bakalova, D. Cimadomo, N. Findikli, O. Coban, M. Serdarogullari, F. Favero, S. Bortolato, A. Anastasi, F. Capodanno, A. Gallinelli, F. Brancati, L. Rienzi, F. M. Ubaldi, J. Jimenez-Almazan, D. Blesa-Jarque, J. Miravet-Valenciano, C. Rubio, C. Simon, A. Capalbo
Summary: This study developed an integrated genetic testing platform that accurately detects chromosomal abnormalities, including ploidy level and microdeletions, expanding the clinical utility of preimplantation genetic testing.
HUMAN REPRODUCTION
(2023)
Article
Gastroenterology & Hepatology
Fuchuan Wang, Yaqi Li, Sen Zhao, Zefu Chen, Zhiqiang Xu, Lianlei Wang, Terry Jianguo Zhang, Jianguo Yan, Lili Cao, Pu Wang, Aiqin Li, Yanwei Zhong, Zhihong Wu, Xiaolong Qi, Min Zhang, Nan Wu
Summary: This study investigated the genetic causes of paediatric liver diseases using a hierarchical genetic testing strategy. Through targeted gene sequencing and exome sequencing, the research identified genetic mutations in a significant proportion of patients and expanded the understanding of the phenotypic and mutational spectrum of these diseases.
LIVER INTERNATIONAL
(2022)
Review
Biochemistry & Molecular Biology
Shantel E. Walcott, Fiona A. Miller, Kourtney Dunsmore, Tanya Lazor, Brian M. Feldman, Robin Z. Hayeems
Summary: This scoping review examined how clinical utility is measured in genetic testing, finding that diagnostic accuracy, technical, and patient outcome efficacy studies were most prevalent. The results suggest that while the FT Model is suitable for the genetics context, refinements in the domains may be needed.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Urology & Nephrology
Neera K. Dahl, Michelle S. Bloom, Fouad T. Chebib, Dinah Clark, Maggie Westemeyer, Sara Jandeska, Zhiji Zhang, Hila Milo-Rasouly, Victoria Kolupaeva, Maddalena Marasa, Varshasb Broumand, Richard A. Fatica, Dominic S. Raj, Zachary P. Demko, Kyle Marshall, Sumit Punj, Hossein Tabriziani, Sangeeta Bhorade, Ali G. Gharavi
Summary: Genetic testing in patients with CKD has been shown to have significant impact on clinical diagnosis and management, including changes in treatment plans. By using a 385 gene panel for genetic testing, clinical diagnoses can be substantially refined and have widespread implications for patient management.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Article
Medical Laboratory Technology
Fei Hou, Aiping Mao, Shan Shan, Yan Li, Wanli Meng, Jiahan Zhan, Wenying Nie, Hua Jin
Summary: This study evaluated the clinical utility of a long-read sequencing-based assay called comprehensive analysis of FXS (CAFXS) in high-risk samples and compared it to conventional PCR assays. The results showed that CAFXS could detect FXS genetic variations more comprehensively and accurately, providing more information for genetic counseling.
CLINICA CHIMICA ACTA
(2023)
Article
Medicine, General & Internal
Lisa M. Shook, Deidra Haygood, Charles T. Quinn
Summary: Newborn screening for sickle cell disease requires genetic testing to ensure accurate diagnosis and treatment. Molecular genetic testing is crucial for distinguishing SCA from conditions like HbS/HPFH.
FRONTIERS IN MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Silvia Castelletti, Belinda Gray, Cristina Basso, Elijah R. Behr, Lia Crotti, Perry M. Elliott, Cecilia M. Gonzalez Corcia, Flavio D'Ascenzi, Jodie Ingles, Bart Loeys, Antonis Pantazis, Guido E. Pieles, Johan Saenen, Georgia Sarquella Brugada, Maria Sanz de la Garza, Sanjay Sharma, Emeline M. Van Craenebroek, Arthur Wilde, Michael Papadakis
Summary: Sports Cardiology practice involves evaluating athletes for genetic cardiac conditions that may lead to serious heart problems. Genetic testing has become more accessible and affordable, but its role and significance in athletes with suspected cardiac conditions are still unclear.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2022)
Article
Transplantation
Andrea Domingo-Gallego, Marc Pybus, Gemma Bullich, Monica Furlano, Laia Ejarque-Vila, Laura Lorente-Grandoso, Patricia Ruiz, Gloria Fraga, Mercedes Lopez Gonzalez, Juan Alberto Pinero-Fernandez, Lidia Rodriguez-Pena, Isabel Llano-Rivas, Raquel Saez, Anna Bujons-Tur, Gema Ariceta, Guirado Lluis, Roser Torra, Elisabet Ars
Summary: Genetic testing of 460 patients with early-onset CKD showed a global diagnostic yield of 65%, with cystic kidney diseases and tubulopathies having higher diagnostic rates. Seven genes accounted for the majority of genetically diagnosed patients.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2022)
Article
Genetics & Heredity
Katerina S. Kucera, Beth Lincoln Boyea, Brooke Migliore, Sarah Nelson Potter, Veronica R. Robles, Oksana Kutsa, Heidi Cope, Katherine C. Okoniewski, Anne Wheeler, Catherine W. Rehder, Edward C. Smith, Holly L. Peay
Summary: Screening for elevated CK-MM levels in dried blood spots is a feasible method to identify newborns with DMD. Including specific cutoffs, repeat testing, and genetic sequencing can improve the accuracy and sensitivity of screening.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Madeline Currey, Ilana Solomon, Sarah Mcgraw, Jenny Shen, Francisco Munoz, Ernesto Sosa, Vanessa Puello-Lozano, Sam Wing, Lisa Lopez, Michelle Afkhami, Janine Lobello, Szabolcs Szelinger, Stacy W. Gray
Summary: This study conducted qualitative interviews with cancer patients and providers to identify gaps in clinical care and propose care delivery solutions for the return of secondary germline findings. The responses of patients varied depending on the amount of pre-test counseling they received, and providers identified insufficient clinic time as a major barrier to pretest education. Online support tools and standardized pre-test education models were favored by providers. There were differing perspectives on how pre-test education should be integrated into clinical workflows, but agreement on the inclusion of differences between somatic and germline testing, likelihood of medically actionable findings, and the possibility of being referred to a genetics provider.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Kiely N. James, Shimul Chowdhury, Yan Ding, Sergey Batalov, Kelly Watkins, Yong Hyun Kwon, Lucitia Van Der Kraan, Katarzyna Ellsworth, Stephen F. Kingsmore, Lucia Guidugli
Summary: This study used genome sequencing to detect a wide range of copy-number variants (CNVs) and other non-single nucleotide variant/indel variant types. These genetic alterations accounted for 15.8% of reported variants, with deletions being the most common type. The study also found that additional genetic tests were ordered in some cases, but failed to report the variants detected by genome sequencing.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Asem Berkalieva, Nicole R. Kelly, Ashley Fisher, Samuel F. Hohmann, Monisha Sebastin, Miranda Di Biase, Katherine E. Bonini, Priya Marathe, Jacqueline A. Odgis, Sabrina A. Suckiel, Michelle A. Ramos, Rosamond Rhodes, Noura S. Abul-Husn, John M. Greally, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny, Bruce D. Gelb, Bart S. Ferket
Summary: The study aims to understand the effects of returning diagnostic sequencing results on clinical actions and economic outcomes for pediatric patients with suspected genetic disorders. The results showed that patients with positive findings were more likely to receive specialist consultation, but there were no significant increases in overall physician services and costs. More large-scale studies are needed to confirm these findings.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Kirstine Stochholm, Camilla Holmgard, Shanlee M. Davis, Claus H. Gravholt, Agnethe Berglund
Summary: This study assessed the incidence, prevalence, and age at diagnosis of individuals with 45,X/46,XY mosaicism and described the associated mortality pattern. The study found an increasing incidence of 45,X/46,XY mosaicism in males and a stable incidence in females. Males were diagnosed at an older age than females. Additionally, 45,X/46,XY mosaicism was associated with increased all-cause mortality.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Yunjia Chen, Ender Karaca, Nathaniel H. Robin, Dana Goodloe, Ali Al-Beshri, S. Joy Dean, Anna C. E. Hurst, Andrew J. Carroll, Fady M. Mikhail
Summary: This study confirms the association between DLG2 intragenic deletions and neurodevelopmental disorders, supports the haploinsufficiency of the DLG2 gene, and suggests a potential association between these deletions and congenital anomalies and dysmorphism.
GENETICS IN MEDICINE
(2024)
