A5034174255- BRCA gene mutations in cancer
- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetic factors in colorectal cancer
- Health Systems, Economic Evaluations, Quality of Life
- Lipoproteins and Cardiovascular Health
- Bioinformatics and Genomic Networks
- Machine Learning in Healthcare
- Nutrition, Genetics, and Disease
- Spine and Intervertebral Disc Pathology
- Meta-analysis and systematic reviews
- Health and Medical Research Impacts
- Explainable Artificial Intelligence (XAI)
- Behavioral Health and Interventions
- Musculoskeletal pain and rehabilitation
- Scoliosis diagnosis and treatment
- Child and Adolescent Psychosocial and Emotional Development
- Biomedical Text Mining and Ontologies
- Early Childhood Education and Development
- Statistical Methods in Clinical Trials
- Pharmaceutical Economics and Policy
- Genetics and Neurodevelopmental Disorders
- Cardiac Structural Anomalies and Repair
- Global Cancer Incidence and Screening
Massachusetts General Hospital
2019-2024
Color (United States)
2022-2024
Broad Institute
2019-2022
University of Michigan
2022
Harvard University
2019-2021
Massachusetts Institute of Technology
2020-2021
Abstract Genetic variation can predispose to disease both through (i) monogenic risk variants that disrupt a physiologic pathway with large effect on and (ii) polygenic involves many of small in different pathways. Few studies have explored the interplay between risk. Here, we study 80,928 individuals examine whether background modify penetrance tier 1 genomic conditions — familial hypercholesterolemia, hereditary breast ovarian cancer, Lynch syndrome. Among carriers variant, estimate...
<h3>Importance</h3> Pathogenic DNA variants associated with familial hypercholesterolemia, hereditary breast and ovarian cancer syndrome, Lynch syndrome are widely recognized as clinically important actionable when identified, leading some clinicians to recommend population-wide genomic screening. <h3>Objectives</h3> To assess the prevalence clinical importance of pathogenic or likely each 3 conditions (familial syndrome) within context contemporary care. <h3>Design, Setting,...
Polygenic risk scores (PRS), which offer information about genomic for common diseases, have been proposed clinical implementation. The ways in PRS may influence a patient's health trajectory depend on how both the patient and their primary care provider (PCP) interpret act information. We aimed to probe PCP responses reporting choices METHODS: Qualitative semi-structured interviews of patients (N=25) PCPs (N=21) exploring mock reports two different designs: binary continuous representations...
<h3>Importance</h3> Familial hypercholesterolemia variants impair clearance of cholesterol from the circulation and increase risk coronary artery disease (CAD). The extent to which adherence a healthy lifestyle is associated with lower CAD in carriers noncarriers warrants further study. <h3>Objective</h3> To assess association interaction between familial CAD. <h3>Design, Setting, Participants</h3> This cross-sectional study used 2 independent data sets gene sequencing UK Biobank:...
Abstract Early use of genome sequencing (GS) in the diagnostic odyssey can reduce suffering and improve care, but questions remain about which patient populations are most amenable to GS as a first-line test. To address this, Medical Genome Initiative conducted literature review identify appropriate clinical indications for GS. Studies published from January 2011 August 2022 that reported on yield (DY) or utility were included. An exploratory meta-analysis using random effects model...
State-of-the-art genetic risk interpretation for a common complex disease such as coronary artery (CAD) requires assessment both monogenic variants—such those related to familial hypercholesterolemia—as well the cumulative impact of many variants, quantified by polygenic score. The objective study was describe combined and CAD program examine its on patient understanding changes clinical management. Study participants attended an initial visit in preventive genomics clinic disclosure discuss...
Abstract Polygenic risk scores (PRS), often aggregating the results from genome-wide association studies, can bridge gap between initial variant discovery efforts and disease estimation for clinical applications. However, there is remarkable heterogeneity in reporting of these due to a lack adherence standards no accepted suited current state PRS development application. This best practices hinders translation into care. The ClinGen Complex Disease Working Group, collaboration with Score...
ABSTRACT Background Genetic variation can predispose to disease both through (i) monogenic risk variants in specific genes that disrupt a physiologic pathway and have large effect on (ii) polygenic involves numbers of small affect many different pathways. Few studies explored the interaction between risk. Methods We identified calculated scores for three diseases, coronary artery disease, breast cancer, colorectal study populations — case-control cohorts (UK Biobank; N=12,879) cancer (Color...
Introduction As gene identification efforts have advanced in psychiatry, so aspirations to use genome-wide polygenic information for prevention and intervention. Although risk scores (PRS) substance psychiatric outcomes are not yet available clinical settings, individuals can access their PRS through online direct-to-consumer resources. One of these widely used websites reports that alcohol disorder is the third most requested out &gt;1,000 conditions. However, data indicate there...
Disease risk models can identify high-risk patients and help clinicians provide more personalized care. However, de-veloped on one dataset may not generalize across diverse subpop-ulations of in different datasets have unexpected performance. It is challenging for clinical researchers to inspect subgroups without any tools. Therefore, we developed an interactive visualization system called RMExplorer (Risk Model Explorer) enable model assessment. Specifically, the allows users define by...
Abstract Lung cancer is a leading health challenge in the United States – it third most common and disproportionately impacts people of color. Early detection lung possible through routine screenings using low-dose CT scans. Despite efficacy screening, 80-85% eligible for screening are not up-to-date. The underutilization regular has often been attributed to gaps primary care insufficient support following an abnormal result. In effort improve access, Color American Cancer Society (ACS),...
Abstract Background Polygenic scores – which quantify inherited risk by integrating information from many common sites of DNA variation may enable a tailored approach to clinical medicine. However, alongside considerable enthusiasm, we and others have highlighted lack systematic approaches for score disclosure. Here, review the landscape polygenic reporting describe generalizable development disclosure tools coronary artery disease. Methods First, assembled working group clinicians,...
Abstract Purpose To evaluate the diagnostic yield and clinical utility of genome sequencing (cWGS) as a first genetic test for patients with suspected monogenic disorders. Methods We conducted prospective randomized study pediatric adult recruited from genetics clinics at Massachusetts General Hospital who were undergoing planned testing. Participants into two groups: standard-of-care testing (SOC) only or SOC cWGS. Results 204 participants enrolled 99 received cWGS returned 23 molecular...
Disease risk models can identify high-risk patients and help clinicians provide more personalized care. However, developed on one dataset may not generalize across diverse subpopulations of in different datasets have unexpected performance. It is challenging for clinical researchers to inspect subgroups without any tools. Therefore, we an interactive visualization system called RMExplorer (Risk Model Explorer) enable model assessment. Specifically, the allows users define by selecting...