Genetic evaluation of cardiomyopathy—a Heart Failure Society of America practice guideline
RE Hershberger, MM Givertz, CY Ho, DP Judge… - Journal of cardiac …, 2018 - Elsevier
This guideline describes the approach and expertise needed for the genetic evaluation of
cardiomyopathy. First published in 2009 by the Heart Failure Society of America (HFSA), the …
cardiomyopathy. First published in 2009 by the Heart Failure Society of America (HFSA), the …
[HTML][HTML] Return of individual research results from genomic research: A systematic review of stakeholder perspectives
Despite the plethora of empirical studies conducted to date, debate continues about whether
and to what extent results should be returned to participants of genomic research. We aimed …
and to what extent results should be returned to participants of genomic research. We aimed …
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American …
K Manickam, MR McClain, LA Demmer, S Biswas… - Genetics in …, 2021 - nature.com
Purpose To develop an evidence-based clinical practice guideline for the use of exome and
genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital …
genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital …
[HTML][HTML] The clinical sequencing evidence-generating research consortium: integrating genomic sequencing in diverse and medically underserved populations
LM Amendola, JS Berg, CR Horowitz, F Angelo… - The American Journal of …, 2018 - cell.com
The Clinical Sequencing Evidence-Generating Research (CSER) consortium, now in its
second funding cycle, is investigating the effectiveness of integrating genomic (exome or …
second funding cycle, is investigating the effectiveness of integrating genomic (exome or …
[HTML][HTML] Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability
Purpose Exome and genome sequencing (ES/GS) are performed frequently in patients with
congenital anomalies, developmental delay, or intellectual disability (CA/DD/ID), but the …
congenital anomalies, developmental delay, or intellectual disability (CA/DD/ID), but the …
Measures of utility among studies of genomic medicine for critically ill infants: a systematic review
KP Callahan, R Mueller, J Flibotte… - JAMA Network …, 2022 - jamanetwork.com
Importance Genomic medicine holds promise to revolutionize care for critically ill infants by
tailoring treatments for patients and providing additional prognostic information to families …
tailoring treatments for patients and providing additional prognostic information to families …
[HTML][HTML] Clinical utility of genomic sequencing: a measurement toolkit
Whole-genome sequencing (WGS) is positioned to become one of the most robust
strategies for achieving timely diagnosis of rare genomic diseases. Despite its favorable …
strategies for achieving timely diagnosis of rare genomic diseases. Despite its favorable …
Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics
Given the limited therapeutic options for most rare diseases diagnosed through genomic
sequencing (GS) and the proportion of patients who remain undiagnosed even after GS, it is …
sequencing (GS) and the proportion of patients who remain undiagnosed even after GS, it is …
[HTML][HTML] The PrU: Development and validation of a measure to assess personal utility of genomic results
Purpose People report experiencing value from learning genomic results even in the
absence of clinically actionable information. Such personal utility has emerged as a key …
absence of clinically actionable information. Such personal utility has emerged as a key …
Perceived utility of genomic sequencing: qualitative analysis and synthesis of a conceptual model to inform patient-centered instrument development
Abstract Background and Objectives Successful clinical integration of genomic sequencing
(GS) requires evidence of its utility. While GS potentially has benefits (utilities) or harms …
(GS) requires evidence of its utility. While GS potentially has benefits (utilities) or harms …