PROJECT SUMMARY/ABSTRACT The dream of open science for genomics is hindered by concerns about genomic data re-identification and the resulting restrictive data access protocols. The long-term goal is to create a technical ecosystem that can facilitate more open scientific practices for genomic research.
PROJECT SUMMARY/ABSTRACT Substantial resources have been devoted to policy evaluation of clinical genomic sequencing that hinge on the conceptualization and measurement of utility. However, most evaluations fail to capture the full utility of genomic sequencing because they do not account for impact on family members.
PROJECT NARRATIVE Families with children who have identified deficits in speech and/or sensory or musculoskeletal impairments without a known cause may be referred for genetic testing to find out whether there is a genetic cause. However, there is little research into how parents and caregivers use this diagnosis to inform decisions about therapeutic services, access to school services, or how a genomic diagnosis informs the practice of the community professionals who provide these services.
PROJECT NARRATIVE The proposed K01 Award?'Evaluating the Risks and Benefits of the Next Generation of Direct-to-Consumer Genetic Tests??will enable the candidate to acquire the academic background, research experience, and professional skills to become an independent ELSI investigator exploring the risks and benefits of current and emerging direct-to-consumer (DTC) genetic tests.
Project Narrative This proposal seeks to investigate the ethical, social, and policy implications of a new kind of genetic information currently available to the public: polygenic scores for educational attainment (EA-PGS).
PROJECT NARRATIVE: Genetic counseling and health education are essential components of any early diagnosis program for sickle cell disease to ensure that risk results are effectively communicated by healthcare workers to those at-risk couples and their families. These are also important within the context of culture and health literacy because health beliefs and attitudes of the general public have a significant impact on health seeking behaviors that substantially influence reproductive decisions made by individuals and families.
Prenatal screening and testing technologies using genetic methods are rapidly expanding, offering increasing amounts of genetic information about the fetus. However, research shows that women from underserved populations are less likely to receive or accept prenatal genetic services, leading to discordant birth outcomes. We propose to explore the barriers to access and acceptance of prenatal genetic care among women from underserved populations.
Project Narrative ?Ethical and Social Implications of In Vitro Gametogenesis? In vitro gametogenesis (IVG) is an emerging technology that involves making an egg or a sperm cell outside of the body from a skin cell or a progenitor germ cell, an approach recently validated in mouse models.
This project is designed to improve our understanding of when to best communicate parental genetic risk information to minor children by assessing the minor?s readiness to receive such information from the perspective of the parent and the minor child themselves. We will interview parent-child pairs who have already communicated about parental genetic risk information to richly characterize experiences with, perspectives on, and implications of the communication event(s).
PROJECT NARRATIVE Human genome editing technologies are evolving rapidly and with this evolution brings questions regarding governance and the ethical implications involved in applying these technologies. The He Jiankui controversy is the primary example of the potential exploitation of HGE and the importance of self-governance. This project will be the first case-study to evaluate self-governance in the realm of human genome editing technologies, the findings of which will be validated through a survey of HGE scientists.