Article
Medicine, General & Internal
Timothee Olivier, Vinay Prasad
Summary: The article highlights the potential risks of molecular test-based strategies in cancer treatment, including overtreatment and undertreatment. It emphasizes the importance of testing novel strategies in addition to standard of care and focusing on settings with widespread agreement. It also reminds healthcare professionals to be aware of scientific pitfalls when considering running trials or implementing new strategies.
Review
Clinical Neurology
Avi Fellner, Yael Goldberg, Lina Basel-Salmon
Summary: The lack of access to genetics specialists is a significant challenge for the comprehensive utilization of genomic medicine. Neurologists, who see patients that may require genetic testing, often lack the knowledge and expertise in choosing the appropriate genetic test and managing the results. This review aims to provide a step-by-step guide for non-geneticist physicians in making decisions about diagnostic genetic testing for monogenic neurological diseases and interpreting the test results.
JOURNAL OF NEUROLOGY
(2023)
Article
Chemistry, Analytical
Sandhya Sharma, Emmanuel Thomas, Massimo Caputi, Waseem Asghar
Summary: HCV infections affect approximately 3% of the world population, requiring rapid and accurate diagnostic methods for effective disease management. A study presented an automated RT-LAMP-based molecular diagnostic set-up that can detect 500 virions/mL within 45 minutes, demonstrating high sensitivity and specificity.
Article
Oncology
Huma Q. Rana, Lindsay Kipnis, Kristin Hehir, Angel Cronin, Tim Jaung, Samantha M. Stokes, Fatemeh Fekrmandi, Donna Vatnick, Ursula A. Matulonis, Judy E. Garber, Alexi A. Wright
Summary: The study found that embedding a genetic counselor in a medical and gynecologic oncology clinic significantly increased genetic testing rates and improved timeliness for ovarian cancer patients, leading to higher adherence to guideline recommendations.
GYNECOLOGIC ONCOLOGY
(2021)
Article
Immunology
Nicolas K. Goff, Tianyi Dou, Samantha Higgins, Elizabeth J. Horn, Rohini Morey, Kyle McClellan, Dmitry Kurouski, Artem S. Rogovskyy
Summary: This study discusses the potential of Raman spectroscopy (RS) as a diagnostic test for Lyme disease (LD). The results demonstrate that RS can accurately, sensitively, and specifically identify blood samples from mice infected with Borreliella spirochetes. RS can also be applied to analyze human blood samples, although with slightly lower accuracy, sensitivity, and specificity. These findings suggest that RS should be further explored as a diagnostic test for LD patients.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2022)
Article
Chemistry, Analytical
Hyo Joo Lee, Nam Hun Kim, Eun Hye Lee, Young Soon Yoon, Yun Jeong Jeong, Byung Chul Lee, Bonhan Koo, Yoon Ok Jang, Sung-Han Kim, Young Ae Kang, Sei Won Lee, Yong Shin
Summary: This study proposes a simple tuberculosis molecular diagnostic assay that combines sample preparation and DNA detection steps. The sample preparation is done using a syringe filter with amine-functionalized diatomaceous earth and homobifunctional imidoester, and the target DNA is detected using quantitative PCR. The system has a detection limit that is 10 times higher than conventional PCR assays and can provide results within 2 hours from large volume samples without additional instruments. The clinical utility of the proposed method was validated in 88 sputum samples from four hospitals in the Republic of Korea, showing superior sensitivity compared to other assays. Therefore, this system can be useful for MTB diagnosis in limited-resource settings.
Article
Biology
Arti Easwar, Alexa J. Siddon
Summary: Chronic myeloproliferative neoplasms (MPNs) are hematopoietic stem cell neoplasms with driver events like BCR-ABL1 translocation and somatic mutations in JAK2, CALR, or MPL. Modern sequencing panels have revealed a complex molecular landscape in MPNs, with additional mutations influencing prognosis and becoming increasingly important for risk stratification.
Article
Medicine, General & Internal
Alexia Suarez-Cabrera, Dolly Viviana Fiallo-Suarez, Ruth Stuckey, Marta Luna Uroz-De la Iglesia, Yanira Florido, Angelina Lemes-Castellano, Miguel Angel Perera-Alvarez, Hugo Luzardo-Henriquez, Haridian De la Nuez, Paula Fernandez-Caldas, Silvia De la Iglesia, Maria Teresa Gomez-Casares, Cristina Bilbao-Sieyro
Summary: This study examined molecular biomarkers in 217 CLL patients and found that unmutated IGHV was associated with shorter overall survival and time to first treatment. Lymphocyte count was not significant for time to first treatment in early-stage patients.
Article
Microbiology
Matthias Klein, Johannes Bacher, Sandra Barth, Faranak Atrzadeh, Katja Siebenhaller, Ines Ferreira, Stephan Beisken, Andreas E. Posch, Karen C. Carroll, Richard G. Wunderink, Chao Qi, Fann Wu, Dwight J. Hardy, Robin Patel, Matthew D. Sims
Summary: The Unyvero LRT BAL Application is a multiplex molecular panel that accurately and rapidly detects bacteria, antibiotic resistance markers, and fungus in BAL fluid. Compared to traditional culture methods, it shows high concordance in identifying bacteria and P. jirovecii, with additional potential pathogens found in 21.7% of prospective specimens.
JOURNAL OF CLINICAL MICROBIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Maria V. Kuznetsova, Nelly S. Sogoyan, Andrew J. Donnikov, Dmitry Y. Trofimov, Leila V. Adamyan, Natalia D. Mishina, Jekaterina Shubina, Dmitry V. Zelensky, Gennady T. Sukhikh
Summary: A genome-wide association study was performed to determine genetic loci associated with decreasing risk of uterine leiomyomata. Six significant SNPs were identified and further analysis showed that the minor allele frequencies were lower in the group of women with UL, especially in those with a familial history of leiomyomata. The study also found that the minor allele frequencies in the control group were higher than those in the Caucasian population.
Article
Public, Environmental & Occupational Health
Erica Pitini, Valentina Baccolini, Giuseppe Migliara, Claudia Isonne, Alessandro Sindoni, Elena Mazzalai, Federica Turatto, Corrado De Vito, Carolina Marzuillo, Paolo Villari
Summary: This paper updated a systematic review from 2018 to identify and compare ad hoc designed frameworks for genetic testing evaluation. The study found 30 frameworks, mainly based on the ACCE model, and called for consensus on the assessment of genetic testing. The authors recommended using a general HTA approach, particularly the EUnetHTA HTA core model, for a comprehensive evaluation of genetic and genomic applications.
FRONTIERS IN PUBLIC HEALTH
(2021)
Article
Oncology
Bart Koopman, Harry J. M. Groen, Marjolijn J. L. Ligtenberg, Katrien Grunberg, Kim Monkhorst, Adrianus J. de Langen, Mirjam C. Boelens, Marthe S. Paats, Jan H. von der Thusen, Winand N. M. Dinjens, Nienke Solleveld, Tom van Wezel, Hans Gelderblom, Lizza E. Hendriks, Ernst-Jan M. Speel, Tom E. Theunissen, Leonie I. Kroeze, Niven Mehra, Berber Piet, Anthonie J. van der Wekken, Arja ter Elst, Wim Timens, Stefan M. Willems, Ruud W. J. Meijers, Wendy W. J. de Leng, Anne S. R. van Lindert, Teodora Radonic, Sayed M. S. Hashemi, Danielle A. M. Heideman, Ed Schuuring, Leon C. van Kempen
Summary: This study evaluates the methods and agreement in treatment recommendations among Molecular Tumor Boards (MTBs) from tertiary cancer referral centers in The Netherlands. It found that these MTBs are similar in setup and demonstrate high agreement in recommendations for rare or complex mutational cancer profiles. The proposed Dutch MTB model focuses on collaborative and nationally aligned workflow with interinstitutional collaboration and data sharing.
Review
Chemistry, Analytical
Youngung Seok, Michael G. Mauk, Ruijie Li, Cheng Qian
Summary: In resource-limited conditions like the COVID-19 pandemic, on-site detection of diseases using Point-of-care testing (POCT) is crucial for overcoming crises and saving lives. This review introduces recent approaches to respiratory virus detection, analysis trends, and prospects, emphasizing the importance of affordable, sensitive, and rapid testing on simple and portable platforms.
ANALYTICA CHIMICA ACTA
(2023)
Review
Medicine, General & Internal
Kate Dinneen, Rupali Arora
Summary: The use of molecular testing in ovarian tumours has expanded rapidly, especially in relation to HRD testing in high-grade ovarian epithelial tumours. This has significant implications for pathologists in terms of increased workload and the interpretation of complex molecular pathology reports. Clear communication pathways between clinicians, pathology lab staff, and medical scientists are important to optimize the quality of reports generated. National Genomic Laboratory Hubs (GLHs) have been established in the UK to provide a uniform molecular diagnostics service, while local steps can be taken to improve tissue quality and streamline the testing process.
Article
Chemistry, Analytical
Yu Jin Park, Dong-Yeon Song, Dong-Myung Kim
Summary: Advancing expeditious and highly responsive in vitro diagnostic techniques is crucial for ensuring the effectiveness of disease prevention and control measures. This study utilizes the translational machinery to transform target nucleic acids into easily quantifiable proteins, offering a versatile pathway for adaptable and cost-effective nucleic acid testing.
SENSORS AND ACTUATORS B-CHEMICAL
(2024)
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)