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 Studies suggest that distrust is a major barrier for participation of minorities in Precision Medicine Research (PMR), though no study has examined the sources of (dis)trust and factors affecting views on trustworthiness of PMR among people with disabilities. This study proposes to engage with people with mobility, visual and hearing disabilities?the most common conditions in the U.S.?across racial/ethnic communities and with translational genomic researchers, the leaders in PMR, to close this gap.
Project Narrative Currently, there are marked differences in variant classification among clinical laboratories, and genetic variant classification is currently in flux with improvements in the access to ethnically diverse reference data and new algorithms to predict the pathogenicity of variants. As variants are re-classified over time, there is currently no definitive guidance from professional organizations about how to handle this variant reclassification and who has the duty to re-classify variants and what those obligations are.
Project Narrative Studies suggest that distrust is a major barrier for participation of minorities in Precision Medicine Research (PMR), though no study has examined the sources of (dis)trust and factors affecting views on trustworthiness of PMR among people with disabilities. This study proposes to engage with people with mobility, visual and hearing disabilities?the most common conditions in the U.S.?across racial/ethnic communities and with translational genomic researchers, the leaders in PMR, to close this gap.
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.
Genetic knowledge is becoming increasingly central to the way human health and disease are understood and addressed. In order to advance the translation of medical knowledge into effective practice, it is important to know how genetic knowledge is presently understood by clinicians and patients, and applied in their routine medical encounters. Genetic information is already being translated from the abstracted world of laboratory research to the practical context of clinical practice and everyday life.
The relevance of genomics research for addressing health disparities between population groups is currently being debated. As a practical matter, if genomics hopes to have any role in reducing health disparities, its assumptions and goals will have to make sense to the communities involved. We know very little about what underserved and minority communities that are experiencing health inequities know and think about genomic research and health disparities, and how they might inform research plans if they were invited to discuss it. This project seeks to fill that gap.
Recent advances in genomic medicine and genetic testing have increased availability of and access to genetic assessments in both specialty and routine clinical care. Isolation of genetic markers for disease risk among healthy individuals is changing the way in which diseases are detected and defined. Media reports of genetic findings and availability of direct-to-consumer tests may increase both public curiosity and concern.
Exome sequencing (ES) and whole genome sequencing (WGS) are transformative new tools for discovery of genetic risk factors for both rare and common diseases and offer the potential of personalized genetic risk profiling in a single, cost-effective test. Because of the large number of variant results simultaneously identified, the number of results with potential clinical utility-including those that are unanticipated, and the evolving utility of results over time-use of these technologies challenges existing models of returning results to research subjects and patients.