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Grant Abstract
Identifying strategies to reveal genetic results over the lifespan
PROJECT NARRATIVE If healthy babies are sequenced near birth, when should genetic information relevant to later stages of their lives be revealed? There are different possible strategies for when…- Decision making
- Specific qualifier value
- screening panel
- Genetic Diseases
- genetic screening
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Grant Abstract
Just Inclusion and Equity: Negotiating Community-Research Partnerships in Genomics Research (JUSTICE)
PROJECT NARRATIVE This study aims to investigate facilitators and barriers to long-term equitable partnerships in genomics research between communities and research institutions. We focus on legal…- community based participatory research
- trustworthiness
- stakeholder perspectives
- Beneficence
- Decision making
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Grant Abstract
Managing the Uncertainty of Genetic Information in Neonates
PROJECT NARRATIVE Genetic testing is increasingly used in ill neonates and holds promise to improve care, but the uncertainty of many genetic results complicates their application to clinical…- Decision making
- genetic association
- genetic counselor
- exome sequencing
- variant of unknown significance
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Grant Abstract
iDASH Genome Privacy and Security Competition Workshop
Project Narrative We will continue the effort to promote the development of novel yet practical solutions for important privacy and security challenges in human genomic research, via organizing…- data sharing
- genomic data
- computer science
- Biomedical informatics
- Security
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Collection
Ethical, Legal, and Social Implications of Generative AI (GenAI) in Healthcare
The co-evolution of computational processing power and neural network models has made revolutionary developments in generative artificial intelligence (GenAI) possible. One type of GenAI, large…- ELSI
- generative AI
- large language models
- bioethics
- data privacy
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Research Tool
The Parental Personal Utility Scale (Parent PrU)
The Personal Utility Scale (PrU) asks participants to rate how useful they find nineteen outcomes of genome sequencing on a scale ranging from 1 (not at all useful) to 7 (extremely useful). This… -
Collection
Patient Perspectives on Uncertainty in Genomic Medicine
All medical information is subject to uncertainty, but the practice of medical genetics is characterized by unique magnitudes and forms of uncertainty. In fact, for many patients, a “positive”…- variant of uncertain significance
- incidental finding
- patient experience
- clinical decision-making
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Collection
Establishing Gender-Affirming Genetic Counseling Services
Transgender (trans) describes an individual whose gender identity differs from the sex they were assigned at birth. In the U.S., approximately 2.6 million people (~1% of the population) identify as…- TGDI
- gender affirming care
- intersex
- transgender
- gender-diverse
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Research Tool
Race Attributes in Clinical Evaluation (RACE) Scale
Bonham and colleagues developed the Racial Attributes in Clinical Evaluation (RACE) scale to assess the degree to which health professionals employ race in their clinical decision making. The scale… -
Collection
Screening Embryos for Psychiatric Conditions: Public Perspectives, Ethical and Social Issues
The number of genomic loci identified to be associated with psychiatric disorders have substantially increased over the last decade. Alongside developments in polygenic embryo screening (PES; or PGT-…- polygenic embyro screening
- Polygenic risk scores
- Psychiatry
- Reproductive Decision Making