Promise and Peril of a Genotype‐First Approach to Mendelian Cardiovascular Disease

B Asatryan, B Murray, R Tadros, M Rieder… - Journal of the …, 2024 - ahajournals.org
Precision medicine, which among other aspects includes an individual's genomic data in
diagnosis and management, has become the standard‐of‐care for Mendelian …

[HTML][HTML] Lessons learned from the eMERGE Network: balancing genomics in discovery and practice

eMERGE Consortium - Human Genetics and Genomics Advances, 2021 - Elsevier
Summary The Electronic Medical Records and Genomics (eMERGE) Network, established
in 2007, is a consortium of academic and integrated health systems conducting discovery …

Genetic basis of hypercholesterolemia in adults

S Saadatagah, M Jose, O Dikilitas, L Alhalabi… - NPJ genomic …, 2021 - nature.com
We investigated monogenic and polygenic causes of hypercholesterolemia in a population-
based cohort, excluding secondary hypercholesterolemia, and using an established …

Integrating pharmacogenomics into the electronic health record by implementing genomic indicators

PJ Caraballo, JA Sutton, J Giri, JA Wright… - Journal of the …, 2020 - academic.oup.com
Pharmacogenomics (PGx) clinical decision support integrated into the electronic health
record (EHR) has the potential to provide relevant knowledge to clinicians to enable …

Familial hypercholesterolemia in the electronic medical records and genomics network: prevalence, penetrance, cardiovascular risk, and outcomes after return of …

O Dikilitas, A Sherafati, S Saadatagah… - Circulation: Genomic …, 2023 - Am Heart Assoc
Background: The implications of secondary findings detected in large-scale sequencing
projects remain uncertain. We assessed prevalence and penetrance of pathogenic familial …

Workforce considerations when building a precision medicine program

CL Blout Zawatsky, JR Leonhard, M Bell… - Journal of Personalized …, 2022 - mdpi.com
This paper describes one healthcare system's approach to strategically deploying genetic
specialists and pharmacists to support the implementation of a precision medicine program …

Researchers' perspectives on return of individual genetics results to research participants: a qualitative study

ES Mwaka, DE Sebatta, J Ochieng, IG Munabi… - Global …, 2021 - Taylor & Francis
Genetic results are usually not returned to research participants in Uganda despite their
increased demand. We report on researchers' perceptions and experiences of return of …

Returning genomic results in a Federally Qualified Health Center: the intersection of precision medicine and social determinants of health

GQ Shaibi, IJ Kullo, DP Singh, V Hernandez… - Genetics in …, 2020 - nature.com
Purpose This report describes the return of sequencing results to low-income Latino
participants recruited through a Federally Qualified Health Center (FQHC). We describe …

Population-based genetic testing for precision prevention

O Evans, R Manchanda - Cancer Prevention Research, 2020 - AACR
Global interest in genetic testing for cancer susceptibility genes (CSG) has surged with
falling costs, increasing awareness, and celebrity endorsement. Current access to genetic …

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 …