A5068148559- BRCA gene mutations in cancer
- Genomics and Rare Diseases
- Health Systems, Economic Evaluations, Quality of Life
- Genetic factors in colorectal cancer
- Genetic Associations and Epidemiology
- Biotechnology and Related Fields
- DNA Repair Mechanisms
- Computational Drug Discovery Methods
- Statistical Methods in Clinical Trials
- Prenatal Screening and Diagnostics
- Cancer Genomics and Diagnostics
- PARP inhibition in cancer therapy
- Family Support in Illness
- Health, Environment, Cognitive Aging
- Childhood Cancer Survivors' Quality of Life
- Metabolism and Genetic Disorders
- Ethics in Clinical Research
- Traumatic Brain Injury Research
- CRISPR and Genetic Engineering
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Intestinal Malrotation and Obstruction Disorders
- Ovarian cancer diagnosis and treatment
- Ginkgo biloba and Cashew Applications
- Lysosomal Storage Disorders Research
Boston University
2006-2017
University of Michigan
2016
Brigham and Women's Hospital
2016
Duke University
2016
Howard University Hospital
2016
Case Western Reserve University
2016
Fairfield University
2016
Walter Reed National Military Medical Center
2016
Washington University in St. Louis
2016
Albert Einstein College of Medicine
2014-2015
A genetic marker known as apolipoprotein E provides a clear signal of person's risk developing Alzheimer's disease and thus that future need for long-term care. People who find they have the variant trait increases are more likely to purchase care insurance after receiving this information. If information is widely introduced into market, coverage rates could be affected in different ways, depending on possesses Policymakers will eventually confront issue use other markers pricing insurance.
With the completion of Human Genome Project and development high throughput technologies, such as next-generation sequencing, use multiplex genetic testing, in which multiple genes are sequenced simultaneously to test for one or more conditions, is growing rapidly. Reflecting underlying heterogeneity where a broad range confer risks cancers, cancer panels assess these represents just example how testing being applied clinically. There number issues challenges consider when conducting risk...
Background: Increasing use of genetic testing raises questions about disclosing secondary findings, including pleiotropic information. Objective: To determine the safety and behavioral effect modest associations between apolipoprotein E (APOE) genotype coronary artery disease (CAD) risk during APOE-based assessments for Alzheimer (AD). Design: Randomized, multicenter equivalence clinical trial. (ClinicalTrials.gov: NCT00462917) Setting: 4 teaching hospitals. Participants: 257 asymptomatic...
Abstract The ENIGMA research consortium ( https://enigmaconsortium.org/ ) develops and applies methods to determine clinical significance of variants in Hereditary Breast Ovarian Cancer genes. An BRCA1/2 classification sub-group, originally formed 2016 as a ClinGen external expert panel, evolved into internal Variant Curation Expert Panel (VCEP) align with Federal Drug Administration recognized processes for ClinVar contributions. VCEP reviewed American College Medical Genetics/Association...
Abstract Introduction Conventional multisession genetic counseling is currently recommended when disclosing apolipoprotein E ( APOE ) genotype for the risk of Alzheimer's disease (AD) in cognitively normal individuals. The objective this study was to evaluate safety brief disclosure protocols AD. Methods A randomized, multicenter noninferiority trial conducted at four sites. Participants were asymptomatic adults having a first‐degree relative with standard protocol by counselors (SP‐GC)...
This study explored the extent to which recipients of genetic susceptibility testing for Alzheimer's disease (AD) communicated their results others. It also examined demographic characteristics, along with beliefs about AD, associated such communication. Participants (N = 271) in a randomized clinical trial involving Apolipoprotein E (APOE) gene variants among first-degree relatives AD patients reported communication behaviors 6 weeks after disclosure. Information on and was collected at...
This paper describes the development and psychometric properties of a new scale for assessing psychologic impact genetic susceptibility testing Alzheimer disease (AD). The instrument, REVEAL Impact Genetic Testing Alzheimer's (IGT-AD) was designed to examine unique nature information course AD. tested as part multicenter clinical trial evaluate AD risk assessment data were collected from 276 participants in study. Using an iterative process principal component analysis Cronbach α, final...
Abstract Purpose: The identification of variants uncertain significance (VUS) in the BRCA1 and BRCA2 genes by hereditary cancer testing poses great challenges for clinical management variant carriers. ACMG/AMP (American College Medical Genetics Genomics/Association Molecular Pathology) classification framework, which incorporates multiple sources evidence, has potential to establish relevance many VUS. We sought classify 133 single-nucleotide substitution encoding missense DNA-binding domain...
Germline pathogenic variants in
Abstract Pathogenic protein-truncating variants of RAD51C, which plays an integral role in promoting DNA damage repair, increase the risk breast and ovarian cancer. A large number RAD51C missense uncertain significance (VUS) have been identified, but effects majority these on function cancer predisposition not established. Here, analysis 173 by a homology-directed repair (HDR) assay reconstituted RAD51C−/− cells identified 30 nonfunctional (deleterious) variants, including 18 hotspot within...
The American Board of Genetic Counseling (ABGC) performed a genetic counseling practice analysis (PA) to determine the content certification examination. ABGC-appointed PA Advisory Committee worked with psychometricians develop survey which was distributed 2,038 counselors in United States and Canada. also accessible on ABGC website. Multiple criteria were used establish significance tasks included survey. A total 677 responses analysis, representing 37.1% corrected response rate. Five major...
Abstract There is movement to expand newborn screening (NBS) include conditions that challenge the traditional public health criteria. Little known about attitudes of genetic counselors towards expanding NBS and offering predictive tests children. For our study completed an internet survey posted on National Society Genetic Counselors Listserv regarding five conditions: cystic fibrosis (CF), Duchenne muscular dystrophy (DMD), glucose‐6‐phosphate dehydrogenase deficiency (G6PD), fragile X...
Abstract Perceived risk is a complex concept that influences the genetic counseling process and can affect client coping behavior. Although association between family history perception well recognized in literature, no studies have explored this relationship specifically those seeking susceptibility testing for common chronic condition. REVEAL randomized trial assessing impact of APOE disclosure assessment Alzheimer's disease (AD). Using baseline data, we hypothesized there would be...
Abstract To facilitate the development of a therapeutic alliance in genetic counseling, it is important that counselor understands how families might perceive condition constitutes reason for referral. Through training and professional practice, counselors develop thorough understanding families’ perceptions conditions are common indications counseling. But, referral less frequent, like serious mental illnesses, may feel confident their family's experience, or ability to provide psychosocial...
Abstract Since first publication of the American College Medical Genetics and Genomics/Association for Pathology (ACMG/AMP) variant classification guidelines, additional recommendations application certain criteria have been released (https://clinicalgenome.org/docs/), to improve their in diagnostic setting. However, none addressed use PS4 PP4 criteria, capturing patient presentation as evidence towards pathogenicity. Application can be done through traditional case–control studies, or...
Abstract Background BRCA1 :c.5017_5019del (p.His1673del) is a founder variant relatively frequent in Northern Italy. Despite previous suggestion of pathogenicity, classification public databases still conflicting, needing additional evidence. Methods Maximum likelihood penetrance breast/ovarian and other cancer types was estimated using full pedigree data from 53 informative Italian families. The effect the on BRCA1‐ABRAXAS1 interaction assessed GFP‐fragment reassembly‐based PPI assay....