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[HTML][HTML] Electronic health records and genomics: perspectives from the association for molecular pathology electronic health record (EHR) interoperability for clinical …
The use of genomics in medicine is expanding rapidly, but information systems are lagging
in their ability to support genomic workflows both from the laboratory and patient-facing …
in their ability to support genomic workflows both from the laboratory and patient-facing …
Studying the impact of translational genomic research: Lessons from eMERGE
EW Clayton, ME Smith, KC Anderson… - The American Journal of …, 2023 - cell.com
Two major goals of the Electronic Medical Record and Genomics (eMERGE) Network are to
learn how best to return research results to patient/participants and the clinicians who care …
learn how best to return research results to patient/participants and the clinicians who care …
Association of pathogenic variants in hereditary cancer genes with multiple diseases
Importance Knowledge about the spectrum of diseases associated with hereditary cancer
syndromes may improve disease diagnosis and management for patients and help to …
syndromes may improve disease diagnosis and management for patients and help to …
Implementing genomic screening in diverse populations
NS Abul-Husn, ER Soper, GT Braganza… - Genome medicine, 2021 - Springer
Background Population-based genomic screening has the predicted ability to reduce
morbidity and mortality associated with medically actionable conditions. However, much …
morbidity and mortality associated with medically actionable conditions. However, much …
Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon
TD O'Brien, AB Potter, CC Driscoll, G Goh… - The American Journal of …, 2023 - cell.com
Summary The Healthy Oregon Project (HOP) is a statewide effort that aims to build a large
research repository and influence the health of Oregonians through providing no-cost …
research repository and influence the health of Oregonians through providing no-cost …
Impact of a genetic diagnosis for a Child's autism on parental perceptions
J Wynn, A Karlsen, B Huber, A Levine, A Salem… - Journal of Autism and …, 2024 - Springer
Genetic testing is recommended as part of an autism assessment, and most parents support
genetic testing for their minor children. However, the impact on parents of receiving a …
genetic testing for their minor children. However, the impact on parents of receiving a …
The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network
Abstract Purpose The goal of Electronic Medical Records and Genomics (eMERGE) Phase
III Network was to return actionable sequence variants to 25,084 consenting participants …
III Network was to return actionable sequence variants to 25,084 consenting participants …
Penetrance of breast cancer susceptibility genes from the eMERGE III network
Background Unbiased estimates of penetrance are challenging but critically important to
make informed choices about strategies for risk management through increased …
make informed choices about strategies for risk management through increased …
Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas
Latin Americans are underrepresented in genetic studies, increasing disparities in
personalized genomic medicine. Despite available genetic data from thousands of Latin …
personalized genomic medicine. Despite available genetic data from thousands of Latin …
Do research participants share genomic screening results with family members?
J Wynn, H Milo Rasouly… - Journal of genetic …, 2022 - Wiley Online Library
The public health impact of genomic screening can be enhanced by cascade testing.
However, cascade testing depends on communication of results to family members. While …
However, cascade testing depends on communication of results to family members. While …