A5103068225- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Genetic factors in colorectal cancer
- Ethics in Clinical Research
- Lipoproteins and Cardiovascular Health
- HIV Research and Treatment
- Health Systems, Economic Evaluations, Quality of Life
- Nutrition, Genetics, and Disease
- Cystic Fibrosis Research Advances
- Genomic variations and chromosomal abnormalities
- Tryptophan and brain disorders
- Law, Economics, and Judicial Systems
- Genetic Associations and Epidemiology
- Legal and Constitutional Studies
- Cancer Genomics and Diagnostics
- Cardiomyopathy and Myosin Studies
- Prenatal Screening and Diagnostics
- RNA Interference and Gene Delivery
- Bipolar Disorder and Treatment
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Schizophrenia research and treatment
- Long-Term Effects of COVID-19
- Cardiac Imaging and Diagnostics
- Psychopathy, Forensic Psychiatry, Sexual Offending
- Sports injuries and prevention
Sligo University Hospital
2023
Genomic Health (United States)
2018-2022
Yale University
2008-2021
Central Mental Hospital
2021
University of Utah
2019
Yale Cancer Center
2018
Brigham and Women's Hospital
2003-2011
Harvard University
2007
Center for Cancer Research
2002
Massachusetts Institute of Technology
2002
<h3>Importance</h3> Detection of disease-associated variants in the<i>BRCA1</i>and<i>BRCA2</i>(<i>BRCA1/2</i>) genes allows for cancer prevention and early diagnosis high-risk individuals. <h3>Objectives</h3> To identify pathogenic likely (P/LP)<i>BRCA1/2</i>variants an unselected research cohort, to characterize the features associated with P/LP variants. <h3>Design, Setting, Participants</h3> This is a cross-sectional study adult volunteers (n = 50 726) who underwent exome sequencing at...
Familial hypercholesterolemia (FH) is an underdiagnosed dominant genetic condition affecting approximately 0.4% of the population and has up to a 20-fold increased risk coronary artery disease if untreated. Simple screening strategies have false positive rates greater than 95%. As part FH Foundation's FIND initiative, we developed classifier identify potential patients using electronic health record (EHR) data at Stanford Health Care. We trained random forest from known (n = 197) matched...
BackgroundCardiovascular outcomes for people with familial hypercholesterolaemia can be improved diagnosis and medical management. However, 90% of individuals remain undiagnosed in the USA. We aimed to accelerate early timely intervention more than 1·3 million at high risk heart attacks strokes by applying machine learning large health-care encounter datasets.MethodsWe trained FIND FH model using deidentified data, including procedure diagnostic codes, prescriptions, laboratory findings,...
There is currently insufficient scientific evidence to support routine nondiagnostic use of germline genome sequencing in healthcare settings and population screening, but an increasing number health systems are piloting genomic projects for clinical care.• In principle, numerous diagnostic or prognostic tests based on genes variants could be used different purposes across the life span, evidence-based approach urgently needed evaluate their possible utility facilitate appropriate...
<h3>Importance</h3> Genetic disorders are historically defined through phenotype-first approaches. However, risk estimates derived from phenotype-linked ascertainment may overestimate severity and penetrance. Pathogenic variants in<i>DICER1</i>are associated with increased risks of rare common neoplasms thyroid disease in adults children. This study explored how effectively a genome-first approach could characterize the clinical traits germline<i>DICER1</i>putative loss-of-function (pLOF) an...
This Viewpoint describes principles of DNA-based population screening and knowledge gaps that must be addressed before increased use DNA to identify persons with monogenic risk can implemented in programs.
Pharmacists' involvement in a population health initiative focused on chronic disease management is described.Geisinger Health System has cultivated culture of innovation management, as highlighted by its ambulatory care pharmacy program, the Medication Therapy Disease Management (MTDM) program. Initiated 1996, MTDM program leverages pharmacists' pharmacotherapy expertise to optimize and improve outcomes. pharmacists are trained credentialed manage over 16 conditions, including atrial...
The MyCode Community Health Initiative (MyCode) is returning actionable results from whole exome sequencing. Familial hypercholesterolemia (FH) an inherited condition characterized by premature cardiovascular disease.We used multiple methods to assess care in 28 participants who received FH results. Chart reviews were conducted on 23 individuals the sample and 7 participated semistructured interviews.Chart for with a Geisinger primary provider found that 4 (17% of 23) at LDL-C (low-density...
Population genomic screening has been demonstrated to detect at-risk individuals who would not be clinically identified otherwise. However, there are concerns about the increased utilization of unnecessary services and associated increase in costs. The objectives this study twofold: (1) determine whether is a difference healthcare costs following disclosure pathogenic/likely pathogenic (P/LP) BRCA1/2 variant via program, (2) measure post-disclosure uptake National Comprehensive Cancer...
Ideas and Opinions18 September 2018The Path to Routine Genomic Screening in Health CareMichael F. Murray, MDMichael MDYale School of Medicine, New Haven, Connecticut (M.F.M.)Author, Article, Disclosure Informationhttps://doi.org/10.7326/M18-1722 SectionsAboutFull TextPDF ToolsAdd favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail For more than a generation, the idea that an individually tailored health care management plan could be designed on basis...
NA variants that are expected to confer risk for arrhythmogenic right ventricular cardiomyopathy (ARVC) recommended as returnable secondary findings from clinical genomic sequencing.However, ARVC presents several distinct challenges the care and management of patients ascertained through this genome-first approach.We discuss these present recent cases exemplify their impact in a setting.We also propose standard approach evaluations surveillance finally potential diagnostic innovations may...
Background Secure forensic mental health services treat patients with high rates of treatment-resistant psychoses. High obesity and medical comorbidities are common. Population-based studies have identified high-risk groups in the event SARS-CoV-2 infection, including those problems such as obesity, lung disease immune-compromising conditions. Structured assessment tools exist to ascertain risk adverse outcome infection. Aims To assess infection a complete population psychiatry using...