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The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023-2024).
J Med Genet
January 2025
Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK
Background: The NHS Jewish BRCA Testing Programme is offering germline and genetic testing to people with ≥1 Jewish grandparent. Who have an increased likelihood of having an Ashkenazi Jewish (AJ) founder germline pathogenic variant (gPV) compared with the general population.Testing is offered via a self-referral, home-based saliva sampling pathway, supported by a genetic counsellor telephone helpline.
View Article and Find Full Text PDFThe Clinical Status of Patients With Lumbar Spinal Stenosis Reflects Their Individual Decision to Undergo or Defer Lumbar Spinal Surgery.
J Am Acad Orthop Surg
December 2024
From the Spinal Research Laboratory, Department of Physical Therapy, The Stanley Steyer School of Health Professions, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel (Soroka, Weisman, and Masharawi), the Department of Physical Therapy, Steinhardt School of Culture Education and Human Development, New York University, New York, NY (Lubetzky and Moffat), the Department of Mathematics and Statistics, Dalhousie University, Halifax, Canada (Murphy), the Israel Spine Center, Assuta Hospital, Tel-Aviv, Israel (Ashkenazi and Floman), the Spine Unit, Meir Medical Center, Kfar Saba, Israel (Shabat), and the Department of Orthopedics, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel (Shabat).
Objective: To evaluate whether functional, clinical, and self-reported tests reflect lumbar spinal stenosis patients' decisions to undergo or defer surgery.
Methods: Among 108 participants, 77 chose surgery (SG), and 31 opted to wait and see (WaSG) whether they got better spontaneously. Both groups were assessed at baseline (t0) and 3 months (t1), with additional self-reported measures at 6 (t2) and 12 months (t3).
Leveraging diverse genomic data to guide equitable carrier screening: Insights from gnomAD v.4.1.0.
Am J Hum Genet
January 2025
Medical Genetics and Genomics Laboratories, University of Pittsburgh Medical Center (UPMC), Pittsburgh, PA, USA; Departments of Pathology, and Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. Electronic address:
Analysis of exome data from the latest release of the Genome Aggregation Database (gnomAD v.4.1.
View Article and Find Full Text PDFClinical Variant Reclassification in Hereditary Disease Genetic Testing.
JAMA Netw Open
November 2024
Invitae Corporation (now part of Labcorp Genetics), San Francisco, California.
Importance: Because accurate and consistent classification of DNA sequence variants is fundamental to germline genetic testing, understanding patterns of initial variant classification (VC) and subsequent reclassification from large-scale, empirical data can help improve VC methods, promote equity among race, ethnicity, and ancestry (REA) groups, and provide insights to inform clinical practice.
Objectives: To measure the degree to which initial VCs met certainty thresholds set by professional guidelines and quantify the rates of, the factors associated with, and the impact of reclassification among more than 2 million variants.
Design, Setting, And Participants: This cohort study used clinical multigene panel and exome sequencing data from diagnostic testing for hereditary disorders, carrier screening, or preventive genetic screening from individuals for whom genetic testing was performed between January 1, 2015, and June 30, 2023.
The distribution of regions of homozygosity (ROH) among consanguineous populations-implications for a routine genetic counseling service.
J Hum Genet
February 2025
Genetics Institute, Emek Medical Center, Afula, Israel.
Regions of homozygosity (ROH) increase the risk of recessive disorders, and guidelines recommend reporting of excessive ROH in prenatal testing. However, ROH are common in populations that practice endogamy or consanguinity, and cutoffs for reporting ROH in such populations may not be evidence-based. We reviewed prenatal testing results (based on cytogenetic microarrays) from 2191 pregnancies in the Jewish and non-Jewish populations of Northern Israel and estimated the prevalence of ROH according to self-reported ethnicity and parental relationships.
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