A5081904036- Ethics in Clinical Research
- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Biomedical Ethics and Regulation
- Ethics and Legal Issues in Pediatric Healthcare
- Health Systems, Economic Evaluations, Quality of Life
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Prenatal Screening and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Race, Genetics, and Society
- Ethics in medical practice
- Childhood Cancer Survivors' Quality of Life
- Genetic factors in colorectal cancer
- Child and Adolescent Psychosocial and Emotional Development
- Nutrition, Genetics, and Disease
- Infant Development and Preterm Care
- Pharmaceutical studies and practices
- Patient Dignity and Privacy
- Patient-Provider Communication in Healthcare
- Pharmacogenetics and Drug Metabolism
- Genetic Associations and Epidemiology
- Palliative Care and End-of-Life Issues
- Neurogenetic and Muscular Disorders Research
- Spinal Cord Injury Research
Norton Healthcare
2022-2025
University of Louisville
2016-2025
University of Washington
2024
University of Louisville Hospital
2017-2023
Kosair Children's Hospital
2023
University of Wisconsin–Madison
2023
American Society of Human Genetics
2019-2022
Broad Institute
2019
Kosair Charities
2013-2018
Emory University
2018
Developmental disabilities have diverse genetic causes that must be identified to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 of which were sequenced as proband-parent trios. Whole-exome sequences (WES) generated for 365 individuals (127 affected) and whole-genome (WGS) 612 (244 affected). Pathogenic or likely pathogenic variants found in 100 (27%), with uncertain significance an additional 42 (11.3%). a family history neurological disease,...
About 16% of children have developmental-behavioral disabilities but less than one-third the are detected by their health care providers, probably because use informal milestones checklists. The goal this study is to determine reliability, validity, accuracy, and utility a new tool, PEDS: Developmental Milestones (PEDS:DM). Data from nationally representative sample 1619 administered developmental diagnostic measures were mined for items that best predicted performance in each domain. A...
Return of individual genetic results to research participants, including participants in archives and biorepositories, is receiving increased attention. However, few groups have deliberated on specific or weighed deliberations against relevant local contextual factors.The Electronic Medical Records Genomics (eMERGE) Network, which includes five biorepositories conducting genome-wide association studies, convened a return oversight committee identify potentially returnable results....
As research focused on personalized medicine has developed over the past decade, bioethics scholars have contemplated ethical, legal and social implications of this type research. In next there will be a need to broaden focus work as moves into clinical settings. We consider two broad issues that grow in importance urgency. First, we analyze consequences significant increase health information brought about by medicine. Second, raise concerns potential exacerbate existing disparities healthcare.
As genomic science has evolved, so have policy and practice debates about how to describe evaluate the ways in which information is treated for individuals, institutions, society. The term genetic exceptionalism, describing concept that special or unique, specifically different from other kinds of medical information, been utilized widely, but often counterproductively these debates. We offer contextualism as a new frame characteristics Using stasis theory draw out important connection...
The prospect of newly-emerging, technology-enabled, unregulated citizen science health research poses a substantial challenge for traditional ethics. Unquestionably, significant amount ethics study is needed to prepare the inevitable, widespread introduction research. Using case mobile (mHealth) research, this article provides an ethical, legal, and social implications (ELSI) agenda conducted outside conventional institutions. issues detailed analysis include role IRBs, recruitment,...
Professional consensus has traditionally discouraged predictive genetic testing when no childhood interventions can reduce future morbidity or mortality. However, advances in genome sequencing and accumulating evidence that children families cope adequately with information have weakened this consensus. The primary argument remaining against appeals to children's "right an open future." It claims the autonomy of adult is violated others make irreversible choice obtain disclose during...
Abstract Although US research regulations allow for de‐identified biorepositories to be developed without formal informed consent from the patients whose samples are included, it is unknown whether this model will well‐received by community members. Based on early evidence that such a biobank could successful if who object have opportunity opt‐out, Vanderbilt University biorepository named BioVU follows model. This study reports findings two large‐scale surveys among communities important...
Ensuring equitable access to health care is a widely agreed-upon goal in medicine, yet multidimensional concept that difficult measure. Although frameworks exist evaluate generally, the of "access genomic medicine" largely unexplored and clear framework for studying addressing major dimensions lacking.
Data sharing must be accompanied by responsibility sharing.