A5071432763- BRCA gene mutations in cancer
- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Genetic Associations and Epidemiology
- Renal cell carcinoma treatment
- Vitamin D Research Studies
- Prostate Cancer Treatment and Research
- Cardiac electrophysiology and arrhythmias
- Cardiomyopathy and Myosin Studies
- Nutrition, Genetics, and Disease
- Health Systems, Economic Evaluations, Quality of Life
- Genetics and Neurodevelopmental Disorders
- Renal and related cancers
- Ethics in Clinical Research
- Cardiac pacing and defibrillation studies
- Genomic variations and chromosomal abnormalities
- Epilepsy research and treatment
- Multiple and Secondary Primary Cancers
- Molecular Biology Techniques and Applications
- DNA Repair Mechanisms
- Global Cancer Incidence and Screening
- Prostate Cancer Diagnosis and Treatment
- Nutritional Studies and Diet
- Insect Resistance and Genetics
Invitae (United States)
2020-2025
LabCorp (United States)
2025
Geisinger Health System
2022-2023
Genomic Health (United States)
2023
University of Wisconsin–Madison
2018-2019
Variants of uncertain significance (VUSs) are rampant in clinical genetic testing, frustrating clinicians, patients, and laboratories because the uncertainty hinders diagnoses management. A comprehensive assessment VUSs across many disease genes is needed to guide efforts reduce uncertainty.To describe sources, gene distribution, population-level attributes evaluate impact different types evidence used reclassify them.This cohort study germline DNA variant data from individuals referred by...
It is currently unknown how often and in which ways a genetic diagnosis given to patient with epilepsy associated clinical management outcomes. To evaluate diagnoses patients are This was retrospective cross-sectional study of referred for multigene panel testing between March 18, 2016, August 3, 2020, outcomes reported May November 2020. The setting included commercial laboratory multicenter practices. Patients epilepsy, regardless sociodemographic features, who received pathogenic/likely...
To examine user uptake and experience with a clinical chatbot that automates hereditary cancer risk triage by collecting personal family history in routine women's health care settings.
Genetic testing can guide management of both cardiomyopathies and arrhythmias, but cost, yield, uncertain results be barriers to its use. It is unknown whether combined disease improve diagnostic yield clinical utility for patients with a suspected genetic cardiomyopathy or arrhythmia.To evaluate the implications arrhythmia through no-charge, sponsored program arrhythmia.This cohort study involved retrospective review DNA sequencing cardiomyopathy- arrhythmia-associated genes. The included...
PURPOSE Whether germline multigene panel testing (MGPT) should be performed in all individuals with colorectal cancer (CRC) remains uncertain. Therefore, we aimed to determine the yield and potential clinical impact of MGPT across a large, diverse CRC cohort. METHODS This was retrospective cohort study adults who underwent > 10 genes at commercial laboratory between March 2015 May 2021. All data were prospectively collected through single retrospectively analyzed. RESULTS A total 34,244...
PURPOSE To report on pathogenic germline variants detected among individuals undergoing genetic testing for hereditary breast and/or ovarian cancer (HBOC) from Latin America and compare them with self-reported Hispanic the United States. METHODS In this cross-sectional study, unrelated a personal/family history suggestive of HBOC who received clinician-ordered multigene sequencing were grouped according to location ordering physician: group A, Mexico, Central America, Caribbean; B, South...
A molecular diagnosis can be associated with medical actionability, informing clinical management of genetic disease, for example, by pointing to guidelines surveillance or precision therapies. However, the rate test results that is medically actionable remains unknown in real-world testing. Understanding degree which gene testing inform care important because it has broad relevance care, professional practice guidelines, patient advocacy, health economic research, and insurance...
The use of proactive genetic screening for disease prevention and early detection is not yet widespread. Professional practice guidelines from the American College Medical Genetics Genomics (ACMG) have encouraged reporting pathogenic variants that confer personal risk actionable monogenic hereditary disorders, but only as secondary findings exome or genome sequencing. Centers Disease Control Prevention (CDC) recognizes potential public health impact three Tier 1 disorders. Here, we report...
Abstract Background and aims CDH1 germline variants have been linked to heritability in diffuse gastric (DGC) lobular breast cancer (LBC). Studies not yet assessed whether is a cancer-susceptibility gene other cancers. Herein, we mapped the landscape of pathogenic likely (P/LP) across various cancers ethnicities. Methods We evaluated P/LP 212,944 patients at one CLIA-certified laboratory (Invitae) described their frequency 7 types. screened for variant enrichment each relative cancer-free...
Although multiple factors can influence the uptake of cascade genetic testing, impact proband indication has not been studied. We performed a retrospective, cross-sectional study comparing testing rates among relatives probands who received either diagnostic germline or non-indication-based proactive screening via next-generation sequencing (NGS)-based multigene panels for hereditary cancer syndromes (HCS) and/or familial hypercholesterolemia (FH). The proportion with medically actionable...
Importance HFE gene–associated hereditary hemochromatosis type 1 (HH1) is underdiagnosed, resulting in missed opportunities for preventing morbidity and mortality. Objective To assess whether screening p.Cys282Tyr homozygosity associated with recognition management of asymptomatic iron overload. Design, Setting, Participants This cross-sectional study obtained data from the Geisinger MyCode Community Health Initiative, a biobank biological samples linked electronic health record rural,...
Prostate cancer (PCa) patients with pathogenic/likely pathogenic germline variants (PGVs) in predisposition genes may be eligible for U.S. Food and Drug Administration-approved targeted therapies, clinical trials, or enhanced screening. Studies suggest that are missing genetics-informed care due to restrictive testing criteria.
Prior studies of the renal cell carcinoma (RCC) germline landscape investigated predominantly patients European ancestry. We examine frequency pathogenic and likely (P/LP) variants in 1,829 with RCC from various ancestries. Overall, P/LP are found 17% patients, among whom 10.3% harbor one or more clinically actionable potential preventive therapeutic utility. Patients African ancestry significantly FH compared to non-African controls Genome Aggregation Database (gnomAD). have CHEK2...
PURPOSE Hepatocellular carcinoma (HCC) has well-defined environmental risk factors. In addition, epidemiologic studies have suggested hereditary The goals of this study were to determine the rate pathogenic and likely (P/LP) germline variants in cancer predisposition genes patients with HCC, possible enrichment P/LP particular genes, potential impact on clinical management. MATERIALS AND METHODS A prospective at a tertiary medical center enrolled 217 personal history HCC. Multigene panel...
Background Germline variants in fumarate hydratase ( FH ) are associated with autosomal dominant (AD) hereditary leiomyomatosis and renal cell cancer (HLRCC) recessive (AR) fumarase deficiency (FMRD). The prevalence penetrance across different remain unclear. Methods A database containing 120,061 records from individuals undergoing germline testing was obtained. were classified into 3 categories: AD HLRCC variants, AR FMRD of unknown significance (VUSs). Individuals these categories compared...
Importance In 2020, some health insurance plans updated their medical policy to cover germline genetic testing for all patients diagnosed with colorectal cancer (CRC). Guidelines universal tumor screening via microsatellite instability and/or immunohistochemistry (MSI/IHC) mismatch repair protein expression CRC have been in place since 2009. Objectives To examine whether uptake of MSI/IHC and has improved under these policies identify actionable findings management implications referred...
The identification of numerous genetically based epilepsies has resulted in the widespread use genetic testing to inform epilepsy etiology. Our study aims investigate whether a difference exists diagnostic evaluation and healthcare-related cost expenditures pediatric patients with unknown etiology who receive diagnosis through multigene panel (MEP) comparing those underwent early (EGT) versus late (LGT). Testing was defined as (less than 1 year), or (more following clinical diagnosis. A...