[HTML][HTML] Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review …

C Mighton, S Shickh, E Uleryk, P Pechlivanoglou… - Genetics in …, 2021 - Elsevier
This study systematically reviewed and synthesized the literature on psychological and
clinical outcomes of receiving a variant of uncertain significance (VUS) from multigene panel …

[HTML][HTML] Clinical utility of genomic sequencing: a measurement toolkit

RZ Hayeems, D Dimmock, D Bick, JW Belmont… - NPJ genomic …, 2020 - nature.com
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 …

Why do people seek out polygenic risk scores for complex disorders, and how do they understand and react to results?

L Peck, K Borle, L Folkersen, J Austin - European Journal of Human …, 2022 - nature.com
We sought to explore individuals' motivations for using their direct-to-consumer genetic
testing data to generate polygenic risk scores (PRSs) using a not-for-profit third-party tool …

Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) …

JO Robinson, J Wynn, B Biesecker, LG Biesecker… - Genetics in …, 2019 - nature.com
Purpose As exome and genome sequencing (ES/GS) enters the clinic, there is an urgent
need to understand the psychological effects of test result disclosure. Through a Clinical …

[HTML][HTML] The PrU: Development and validation of a measure to assess personal utility of genomic results

E Turbitt, JN Kohler, F Angelo, IM Miller, KL Lewis… - Genetics in …, 2023 - Elsevier
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 …

[HTML][HTML] Utility of genetic testing from the perspective of parents/caregivers: a scoping review

RZ Hayeems, S Luca, D Assamad, A Bhatt, WJ Ungar - Children, 2021 - mdpi.com
In genomics, perceived and personal utility have been proposed as constructs of value that
include the subjective meanings and uses of genetic testing. Precisely what constitutes …

[HTML][HTML] Cancer Health Assessments Reaching Many (CHARM): a clinical trial assessing a multimodal cancer genetics services delivery program and its impact on …

KF Mittendorf, TL Kauffman, LM Amendola… - Contemporary clinical …, 2021 - Elsevier
Advances in the application of genomic technologies in clinical care have the potential to
increase existing healthcare disparities. Studies have consistently shown that only a fraction …

[HTML][HTML] Rationale and design of the Nephrotic Syndrome Study Network (NEPTUNE) Match in glomerular diseases: designing the right trial for the right patient, today

H Trachtman, H Desmond, AL Williams, LH Mariani… - Kidney international, 2024 - Elsevier
Glomerular diseases are classified using a descriptive taxonomy that is not reflective of the
heterogeneous underlying molecular drivers. This limits not only diagnostic and therapeutic …

Genetics adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery

S Shickh, D Hirjikaka, M Clausen, R Kodida… - BMJ open, 2022 - bmjopen.bmj.com
Introduction The high demand for genetic tests and limited supply of genetics professionals
has created a need for alternative service delivery models. Digital tools are increasingly …

[HTML][HTML] The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing

M Sebastin, JA Odgis, SA Suckiel, KE Bonini… - Pilot and Feasibility …, 2023 - Springer
Background The COVID-19 pandemic forced healthcare institutions and many clinical
research programs to adopt telehealth modalities in order to mitigate viral spread. With the …