A5039123495- Prenatal Screening and Diagnostics
- Cystic Fibrosis Research Advances
- BRCA gene mutations in cancer
- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Ethics in Clinical Research
- Genomic variations and chromosomal abnormalities
- Genetic factors in colorectal cancer
- Nematode management and characterization studies
- Congenital Heart Disease Studies
- Tracheal and airway disorders
- Reproductive Health and Technologies
- Cognitive Abilities and Testing
- Autism Spectrum Disorder Research
- Pharmacogenetics and Drug Metabolism
- Cancer Treatment and Pharmacology
- Adolescent and Pediatric Healthcare
- Fetal and Pediatric Neurological Disorders
- Statistical Methods in Clinical Trials
- Genetic and Kidney Cyst Diseases
- Genetic Syndromes and Imprinting
- Pharmaceutical studies and practices
- Diet and metabolism studies
- Diversity and Career in Medicine
- Genetics and Neurodevelopmental Disorders
Myriad Genetics
2019-2025
Hepatitis B Foundation
2023
Columbia University
2021
John Wiley & Sons (United Kingdom)
2020
Hudson Institute
2020
Kimball International (United States)
2018
American Medical Association
2010-2015
Sarah Cannon
2007
Rutgers Cancer Institute of New Jersey
2007
PAREXEL International (United States)
2007
To develop a benchmark measure of US physicians' level knowledge and extent use pharmacogenomic testing, we conducted an anonymous, cross-sectional, fax-based, national survey. Of 397,832 physicians receiving the survey questionnaire, 10,303 (3%) completed returned it; respondents were representative overall physician population. The factors associated with decision to test evaluated using χ2 multivariate logistic regression. Overall, 97.6% responding agreed that genetic variations may...
The use of pharmacogenomic testing in the clinical setting has potential to improve safety and effectiveness drug therapy, yet studies have revealed that physicians lack knowledge about topic pharmacogenomics, are not prepared implement it setting. This study further explores deficit educational resource needs among physicians.Surveys primary care physicians, cardiologists, psychiatrists were conducted.Few reported familiarity with but more confidence their influence genetics on therapy....
Abstract This study explores neurologists’ and psychiatrists’ knowledge, attitudes, practices concerning genetic tests. Psychiatrists ( n = 5,316) neurologists 2,167) on the American Medical Association master list who had agreed to receive surveys were sent an email link a survey about their attitudes regarding testing; 372 psychiatrists 163 responded. A higher proportion of (74 %) than (14 responded ordered testing in past 6 months. Overall, most respondents thought that tests should be...
Expanded carrier screening (ECS) informs couples of their risk having offspring affected by certain genetic conditions. Limited data exists assessing the actions and reproductive outcomes at-risk (ARCs). We describe impact ECS on planned actual pregnancy management in largest sample ARCs studied to date.Couples who elected were found be at high a least one 176 conditions invited complete survey about management.Three hundred ninety-one completed survey. Among those screened before becoming...
Carrier screening identifies couples at high risk for conceiving offspring affected with serious heritable conditions. Minimal guidelines recommend offering testing cystic fibrosis and spinal muscular atrophy, but expanded carrier (ECS) assesses hundreds of conditions simultaneously. Although medical societies consider ECS an acceptable practice, the health economics remain incompletely characterized.Preconception was modeled using a decision tree comparing minimal 176-condition panel. rates...
ABSTRACT Objective Outcomes in pregnancies with rare autosomal aneuploidies (RAAs) are poorly characterized, most studies having small sample sizes. Here, we describe outcomes and management a large cohort of that screened positive for an RAA (RAA+). Methods Results prenatal cell‐free DNA screening were linked to de‐identified insurance claims data. Diagnosis procedure codes used estimate pregnancy management. Relevant covariates comparative analyses adjusted using propensity‐score matching....
Disease severity is important when considering genes for inclusion on reproductive expanded carrier screening (ECS) panels. We applied a validated and previously published algorithm that classifies diseases into four categories (mild, moderate, severe, profound) to 176 screened by ECS. traits defining in the were then mapped severity-related ECS panel design criteria cited American College of Obstetricians Gynecologists (ACOG).Eight genetic counselors (GCs) medical geneticists (MDs) subsets...
PurposeWe previously described a combined risk score (CRS) that integrates multiple-ancestry polygenic (MA-PRS) with the Tyrer-Cuzick (TC) model to assess breast cancer (BC) risk. Here, we present longitudinal validation of CRS in real-world cohort.MethodsThis study included 130,058 patients referred for hereditary genetic testing and negative germline pathogenic variants BC-associated genes. Data were obtained by linking test results medical claims (median follow-up 12.1 months)....
Medical society guidelines recommend offering genotyping-based cystic fibrosis (CF) carrier screening to pregnant women or considering pregnancy. We assessed the performance of sequencing-based CF relative genotyping, in terms analytical validity, clinical impact, and utility.Analytical validity was using orthogonal confirmation reference samples. Clinical evaluated CFTR2 database. impact ~100,000 screened patients. Three strategies were compared: genotyping 23 guideline-recommended variants...
Background Although management guidelines exist for several genes associated with a 2‐fold to 5‐fold increase in the relative risk certain cancers, value of testing them remains controversial. Methods De‐identified personal and family history data 654 individuals pathogenic variants (PVs) PALB2 , ATM CHEK2 NBN BRIP1 RAD51C and/or RAD51D were analyzed pretest post‐test candidacy guideline‐recommended cancer risk. These invited complete survey about provider recommendations their adherence....
Despite the growing availability of genomic tools for clinical care, many health care providers experience gaps in genomics knowledge and skills that serve as impediments to widespread appropriate integration into routine care. A workshop recently held by Institute Medicine (IOM) Roundtable on Translating Genomics-Based Research Health explored 1) barriers result a perception among need education is not urgent 2) drivers may spur change attitude. This commentary promotes continuing graduate...
22q11.2 deletion syndrome (DS) is a serious condition with range of features. The small microdeletion causing 22q11.2DS makes it technically challenging to detect using standard prenatal cfDNA screening. Here, we assess clinical performance by screen that incorporates fetal fraction (FF) amplification.
We examined how 372 psychiatrists view genetic aspects of mental disorders and behaviors use tests (GTs). Most thought that the contribution was moderate/high for bipolar disorder, schizophrenia, depression, Alzheimer’s, intelligence, creativity, anxiety, suicidality. In past 6 months, 14.1% ordered GTs, 18.3% discussed prenatal testing with patients, 36.0% initiated discussions about other 41.6% had patients ask 5.3% excluded GT results from patient records. Many GTs; were available...
To evaluate the efficacy of three different carrier screening workflows designed to identify couples at risk for having offspring with autosomal recessive conditions.Partner testing compliance, unnecessary testing, turnaround time, and ability at-risk (ARCs) were measured across all strategies (sequential, tandem, or tandem reflex).A total 314,100 individuals who underwent analyzed. Sequential, reflex yielded compliance frequencies 25.8%, 100%, 95.9%, respectively. Among 14,595 tested in...
Abstract Background Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Many providers offer preconception or prenatal FXS carrier screening. However, guidelines recommend screening only for those with a family history undergoing fertility evaluation. Wider has been resisted because concerns about patient understanding FXS‐associated inheritance patterns and phenotypes. Additionally, clinical utility questioned. Methods We addressed these by analyzing...
Given the rapid growth in genomic tests and targeted therapeutics, clinicians are likely to benefit from additional precision medicine education. Aim: This study evaluated engagement effectiveness of two interactive, case-based educational modules about somatic tumor testing, developed by Jackson Laboratory, American Medical Association Scripps Research Translational Institute, titled 'Precision Medicine for Your Practice'. Results: 402 participants enrolled one or both free online...
People who inject drugs (PWID) are a key population for treatment with direct-acting antiviral medications (DAAs) to eliminate hepatitis C virus (HCV). We developed Pharmacist, Physician, and Patient Navigator Collaborative Care Model (PPP-CCM) delivery of HCV treatment; this study describes clinical outcomes related (initial evaluation, initiation, completion, cure), as well patient satisfaction.
Background: Noninvasive prenatal screening (NIPS) utilization has grown dramatically and is increasingly offered to the general population by nongenetic specialists. Web-based technologies telegenetic services offer potential solutions for efficient results delivery genetic counseling. Introduction: All major guidelines recommend patients with both negative positive be counseled. The main objective of this study was quantify patient utilization, motivation posttest counseling, satisfaction a...