A5028159527- BRCA gene mutations in cancer
- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Education, Achievement, and Giftedness
- Health Systems, Economic Evaluations, Quality of Life
- Ethics and Legal Issues in Pediatric Healthcare
- Ethics in Clinical Research
- Youth Development and Social Support
- Genetic factors in colorectal cancer
- Spine and Intervertebral Disc Pathology
- Cognitive Abilities and Testing
- Mentoring and Academic Development
- Musculoskeletal pain and rehabilitation
- Prenatal Screening and Diagnostics
- Diversity and Career in Medicine
- Shoulder Injury and Treatment
- Second Language Learning and Teaching
- Muscle activation and electromyography studies
- Oral and Maxillofacial Pathology
- Soft tissue tumor case studies
- Neurofibromatosis and Schwannoma Cases
- School Choice and Performance
- Interpreting and Communication in Healthcare
- RNA modifications and cancer
- Public Health Policies and Education
Second Genome (United States)
2022
Geisinger Medical Center
2020
Geisinger Health System
2018-2019
Illumina (United States)
2014-2018
National Society of Genetic Counselors
2018
The University of Texas Southwestern Medical Center
2016
Southwestern Medical Center
2016
Children's Medical Center
2016
University of Manitoba
2013-2014
Fordham University
2007-2009
Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently unresolved white matter abnormalities suspected diagnosis leukodystrophy or genetic leukoencephalopathy. WES analyses were performed trio, greater, family groups. Diagnostic pathogenic variants identified in 35% (25 71) patients. Potentially clinically relevant genes further 7% (5 cases, giving total yield clinical diagnoses 42% individuals. These findings provide evidence that can substantially decrease...
As the public's interest in genetics and genomics has increased, there been corresponding unprecedented growth direct‐to‐consumer genetic testing (DTC‐GT). Although regulatory concerns have limited true DTC‐GT available without a physician order, paradigm shifted to model of consumer‐directed (CD‐GT) which patients are researching options requesting specific from their health‐care providers. However, many nongenetics providers do not background, education, interest, or time order and/or...
Fibrous hamartoma of infancy (FHI) is a benign mesenchymal tumor histologically characterized by mixture intersecting fascicles fibroblasts/myofibroblasts in collagenous stroma, nests primitive oval or stellate cells basophilic mucoid and mature adipose tissue. We hypothesized that FHI, because histologic overlap with overgrowth tumors seen CLOVES (Congenital Lipomatous Overgrowth Vascular, Epidermal, Skeletal anomalies) Proteus syndromes, may harbor mutations signaling pathways associated...
Increasing numbers of healthy individuals are undergoing predispositional personal genome sequencing. Here we describe the design and early outcomes PeopleSeq Consortium, a multi-cohort collaboration sequencing projects, which is examining medical, behavioral, economic returning genomic information to individuals. Apparently adults who participated in four projects Consortium were included. Web-based surveys administered before after results disclosure, or some cases only disclosure. Surveys...
This report presents a series of 5 pediatric patients with disseminated pilocytic astrocytomas and frequent nonfusion activating mutations. Genetic variants in these patients' tumors include BRAF p.Val600Glu, p.Val600Asp, KRAS p.Gly60_Gln62ins7. The 2 BRAF-mutated were treated dabrafenib or combination plus trametinib. had either near complete resolution the primary tumor (BRAF p.Val600Glu) stable p.Val600Asp). Both showed improvement leptomeningeal dissemination without significant...
Next generation sequencing (NGS) is dramatically increasing the number of clinically available genetic tests and thus patients in which such testing may be indicated. The complex nature volume reported results requires professional interpretation order to translate synthesize meaning potential benefit patients, counselors are uniquely suited provide this service. increased need for role, coupled with time required a limited trained presents challenge current models making their healthcare...
Since its establishment over 40 years ago, the genetic counseling profession has grown to an estimated ~4,000 professionals in North America. While maintained Master's degree as entry-level and terminal degree, many other allied health professions have added advanced training pathways, such clinical doctorate (ClinD) either optional post-professional or required degree. Discussions regarding degrees also occurred within profession, dating back early 1980s. In 2011, Genetic Counseling...
Abstract The size and reach of the genetic counseling profession have expanded on a global scale since 1970s. Despite this growth, has remained demographically homogenous. Promoting culture inclusivity that supports visible invisible diversity leveraging not only expands perspectives represented in field, but also helps foster equity services. This report summarizes formation, implementation, outcomes 2019 Diversity Inclusion Task Force (TF) National Society Genetic Counselors (NSGC),...
We used the Rasch (1980) model to develop new pictures for Thematic Apperception Test (C. D. Morgan & Murray, 1938; McClelland, Atkinson, Clark, Lowell, 1953) or picture story exercise measure need achievement (nAch). In Experiments 1 and 2, we analyzed stories assess difficulty level of a total 8 using multifaceted with difficulty, probe participant ability as facets partial credit (FACETS; Linacre, 2005). A 6 were retained 4 ones added Experiment 3 in which 201 participants wrote random...
Abstract The interpretation of cognitive test scores often leads to decisions concerning the diagnosis, educational placement, and types interventions used for children. Therefore, it is important that practitioners administer score tests without error. This study assesses frequency examiner errors occur during administration scoring Woodcock‐Johnson III Tests Cognitive Abilities (WJ COG). Data from 36 graduate students across 108 records revealed a total 500 all records. Further analyses...
Journal Article Equity in the Laboratory: Expanding Role of Genetic Counselors Get access Catherine A L Wicklund, Wicklund Myriad Genetics, Salt Lake City, UT, United States Address correspondence to this author at: A.L. Genetics/Graduate Program Counseling, Northwestern University, 645 North Michigan Ave., Suite 630, Chicago, IL 60611, States. E-mail c-wicklund@northwestern.edu. Search for other works by on: Oxford Academic Google Scholar Erica R Ramos Medical and Scientific Affairs, Genome...
Ethnic diversity is not reflected within healthcare professions, including genetic counseling, where lack of growth and membership among minority colleagues extends to upper-level executive roles. While inclusion-based topics have been emphasized, studies on potential barriers career advancement in the field counseling received same attention. Our study examined current state mentorship sponsorship programs, presence inclusion initiatives, opportunities for through lens a counselor....
DNA-Based population screening in the United States has promise to improve health of all people communities. We highlight recent DNA-based examples at state, local, and individual level. Key public principles concepts with a focus on equity appear be lacking current efforts. request 'A Call Action' that involves partners screening. Potential actions consider include: a) identification elimination systemic barriers result inequities follow-up; b) creation national multidisciplinary advisory...
<title>Abstract</title> Population-scale genomics programs may enable increased access to genomic medicine. The Genomic Medicine for Everyone (Geno4ME) program was established across the diverse seven-state Providence Health system research and genome-guided care pathways patients’ lifetimes. Key components included targeted multi-lingual outreach underrepresented groups, a novel electronic informed consent (e-consent) education platform, whole genome sequencing (WGS) with clinical return of...