A5023353380- Cancer Genomics and Diagnostics
- Global Cancer Incidence and Screening
- Genetic factors in colorectal cancer
- Colorectal Cancer Screening and Detection
- Lipoproteins and Cardiovascular Health
- BRCA gene mutations in cancer
- Radiomics and Machine Learning in Medical Imaging
- Biomedical and Engineering Education
- Renal Diseases and Glomerulopathies
- Chronic Kidney Disease and Diabetes
- Biotechnology and Related Fields
- Health and Medical Research Impacts
- Genomics and Rare Diseases
- CRISPR and Genetic Engineering
- Clinical practice guidelines implementation
- Folate and B Vitamins Research
- Health Policy Implementation Science
- Qualitative Comparative Analysis Research
- Medical Imaging Techniques and Applications
- Iron Metabolism and Disorders
- Colorectal and Anal Carcinomas
- Health, Environment, Cognitive Aging
- Genetic Associations and Epidemiology
- Hemoglobinopathies and Related Disorders
- Ethics in Clinical Research
Geisinger Health System
2023-2024
Genomic Health (United States)
2023-2024
Geisinger Medical Center
2020-2023
A real-time trial of a cancer blood test Cancers diagnosed early are often more responsive to treatment. Blood tests that detect molecular markers have successfully identified individuals already known the disease. Lennon et al. conducted an exploratory study closely reflects way in which such would be used future. They evaluated feasibility and safety incorporating multicancer into routine clinical care 10,000 women with no history cancer. Over 12-month period, detected 26 cancers different...
Abstract Guideline recommended standard of care screening is available for four cancer types; most cancer-related deaths are caused by cancers without screening. DETECT-A the first prospective interventional trial evaluating a multi-cancer early detection (MCED) blood test (CancerSEEK) in women history cancer, providing opportunity to assess long-term outcomes individuals with false-positive (FP) MCED results. This analysis participants FP results evaluates performance an imaging-based...
In the US, <20% of cancers are diagnosed by standard-of-care (SoC) screening. Multicancer early detection (MCED) tests offer opportunity to expand cancer Understanding characteristics and clinical outcomes MCED-detected is critical clarifying MCED tests' potential impact. DETECT-A first prospective interventional trial an blood test (CancerSEEK). CancerSEEK, coupled with diagnostic PET-CT, identified including those not detected SoC screening, majority which were localized or regional. We...
Abstract Background Identifying key determinants is crucial for improving program implementation and achieving long-term sustainment within healthcare organizations. Organizational-level complexity heterogeneity across multiple stakeholders can complicate our understanding of implementation. We describe two data visualization methods used to operationalize success consolidate select factors further analysis. Methods a combination process mapping matrix heat systematically synthesize...
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,...
The implications of secondary findings detected in large-scale sequencing projects remain uncertain. We assessed prevalence and penetrance pathogenic familial hypercholesterolemia (FH) variants, their association with coronary heart disease (CHD), 1-year outcomes following return results phase III the electronic medical records genomics network.
3039 Background: Recommended standard of care (SOC) early detection tests are solely available for four cancer types and fewer than 20% incident cancers in the US being diagnosed as a result screening. Advances tumor-derived analytes blood enabling development MCED that may expand detection. While designed with high specificity, false positive (FP) results remain concern clinicians patients alike, no long-term outcomes individuals FP test have been reported. DETECT-A was first prospective...
A traceback genetic testing program for ovarian cancer has the potential to identify individuals with hereditary breast and their relatives. Successful implementation depends on understanding addressing experiences, barriers, preferences of people served.
3037 Background: Less than 20% of cancers are diagnosed as a result standard-of-care (SOC) screening in the US. MCED tests may expand to more cancers, but long-term outcomes test-detected unknown. DETECT-A was first large prospective interventional clinical trial evaluate an blood test. The test used early version CancerSEEK and evaluated 9,911 women without history cancer ( Science 369:6499, 2020). CancerSEEK, coupled with diagnostic PET-CT, safely identified including those not detected by...
Abstract Background Genomic kidney conditions often have a long lag between onset of symptoms and diagnosis. To design real time genetic diagnosis process that meets the needs nephrologists, we need to understand current state, barriers, facilitators nephrologists other clinicians who treat experience, identify areas opportunity for improvement innovation. Methods Qualitative in-depth interviews were conducted with internists from 7 health systems. Rapid analysis identified themes in...
The Implementing Universal Lynch Syndrome Screening (IMPULSS) study explained institutional variation in universal tumor screening (UTS) with the goal of identifying ways to aid organizational decision-makers implementing and optimizing syndrome UTS programs.
Ovarian cancer (OVCA) patients may carry genes conferring risk to biological family; however, fewer than one-quarter of receive genetic testing. "Traceback" cascade testing -outreach potential probands and relatives-is a possible solution. This paper outlines funded study (U01 CA240747-01A1) seeking determine Traceback program's feasibility, acceptability, effectiveness, costs. is multisite prospective observational feasibility across three integrated health systems. Informed by the...
ABSTRACT Background Genomic conditions in nephrology often have a long lag between onset of symptoms and diagnosis. To design real time genetic diagnosis process that meets the needs nephrologists, we need to understand current state diagnostic genomic kidney disorders, barriers facilitators nephrologists experience, identify areas opportunity for improvement innovation. Methods Qualitative in-depth interviews were conducted with 16 from 7 health systems across US, variable levels experience...
Abstract Background Lynch syndrome (LS) is the most common cause of inherited colorectal cancer (CRC). Universal tumor screening (UTS) newly diagnosed CRC cases recommended to aid in diagnosis LS and reduce cancer-related morbidity mortality. However, not all health systems have adopted UTS processes implementation may be inconsistent due system patient-level complexities. Methods To identify barriers, facilitators, suggestions for improvements process from patient perspective, we conducted...
Introduction: Relatively little is known about outcomes following return of secondary findings detected in large scale sequencing projects. We assessed 1-year pathogenic/likely pathogenic (P/LP) variants associated with familial hypercholesterolemia (FH) phase III the eMERGE network (2015-2019). Methods: Adult participants (n=18,544) at 7 sites were enrolled a prospective cohort study to clinical impact returning results from targeted 68 actionable genes, including LDLR , APOB and PCSK9 ....