Monogenic etiologies of persistent human papillomavirus infections: a comprehensive systematic review
S Biglari et al, Genetics in Medicine, November 2023
From the abstract: " Persistent human papillomavirus infection (PHPVI) causes cutaneous, anogenital, and mucosal warts. Cutaneous warts include common warts, Treeman syndrome, and epidermodysplasia verruciformis, among others. Although more reports of monogenic predisposition to PHPVI have been published with the development of genomic technologies, genetic testing is rarely incorporated into clinical assessments. In this systematic review, we found that PHPVI has at least 83 monogenic etiologies and a genetic diagnosis is essential for effective management."
Modernizing Federal Oversight of Laboratory-Developed Tests - Toward Safety, Validity, and Utility.
Udit Singhal et al. N Engl J Med 2023 11 (19) 1735-1737
From the paper: "Advances in precision medicine have fueled an evolution in the availability of laboratory-developed tests (LDTs). Defined as in vitro diagnostic tests that are “designed, manufactured, and used in a single laboratory,” LDTs were initially conceived as simple tests offered to limited, local groups of patients.1 But LDTs have grown in complexity, and some hospital and commercial laboratories now accept specimens from around the world. "
Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.
Elaine Chen et al. JAMA Netw Open 2023 10 (10) e2339571
From the abstract: " How are variants of uncertain significance (VUSs) distributed across genetic disorders and what evidence contributes to their resolution?
In this cohort study of 1?689?845 individuals who predominantly underwent multigene panel testing, 41% had VUSs (mostly missense changes), most often among those who underwent testing for disorders with incomplete penetrance or were identified as Asian or Shephardic Jewish individuals. Among unique VUSs, 7.3% were reclassified, with most reclassified as benign, often using clinical and experimental evidence."
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples
R Wyngaard et al, EJHG, October 19, 2023
From the abstract: "Mobile element insertions (MEIs) are a known cause of genetic disease but have been underexplored due to technical limitations of genetic testing methods. Various bioinformatic tools have been developed to identify MEIs in Next Generation Sequencing data. However, most tools have been developed specifically for genome sequencing (GS) data rather than exome sequencing (ES) data, which remains more widely used for routine diagnostic testing. "