[HTML][HTML] Electronic health records and genomics: perspectives from the association for molecular pathology electronic health record (EHR) interoperability for clinical …

AB Carter, LV Abruzzo, JW Hirschhorn, D Jones… - The Journal of Molecular …, 2022 - Elsevier
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 …

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 …

Association of pathogenic variants in hereditary cancer genes with multiple diseases

C Zeng, LA Bastarache, R Tao, E Venner… - JAMA …, 2022 - jamanetwork.com
Importance Knowledge about the spectrum of diseases associated with hereditary cancer
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 …

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 …

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 …

The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network

KA Leppig, AK Rahm, P Appelbaum, S Aufox… - Genetics in …, 2022 - Elsevier
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 …

Penetrance of breast cancer susceptibility genes from the eMERGE III network

X Fan, J Wynn, N Shang, C Liu, A Fedotov… - JNCI cancer …, 2021 - academic.oup.com
Background Unbiased estimates of penetrance are challenging but critically important to
make informed choices about strategies for risk management through increased …

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 …