Personal utility in genomic testing: a systematic literature review

JN Kohler, E Turbitt, BB Biesecker - European Journal of Human …, 2017 - nature.com
Researchers and clinicians refer to outcomes of genomic testing that extend beyond clinical
utility as 'personal utility'. No systematic delineation of personal utility exists, making it …

Evolving health care through personal genomics

HL Rehm - Nature Reviews Genetics, 2017 - nature.com
With the rapid evolution of next-generation DNA sequencing technologies, the cost of
sequencing a human genome has plummeted, and genomics has started to pervade health …

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 …

Clinical sequencing exploratory research consortium: accelerating evidence-based practice of genomic medicine

RC Green, KAB Goddard, GP Jarvik… - The American Journal of …, 2016 - cell.com
Despite rapid technical progress and demonstrable effectiveness for some types of
diagnosis and therapy, much remains to be learned about clinical genome and exome …

Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics

MC Halley, JL Young, L Fernandez… - American Journal of …, 2022 - Wiley Online Library
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 …

Perceived utility of genomic sequencing: qualitative analysis and synthesis of a conceptual model to inform patient-centered instrument development

HS Smith, SR Morain, JO Robinson, I Canfield… - The Patient-Patient …, 2022 - Springer
Abstract Background and Objectives Successful clinical integration of genomic sequencing
(GS) requires evidence of its utility. While GS potentially has benefits (utilities) or harms …

Defining personal utility in genomics: a Delphi study

JN Kohler, E Turbitt, KL Lewis, BS Wilfond… - Clinical …, 2017 - Wiley Online Library
Background Individual genome sequencing results are valued by patients in ways distinct
from clinical utility. Such outcomes have been described as components of “personal utility,” …

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 …

Integrating precision cancer medicine into healthcare—policy, practice, and research challenges

G Bertier, J Carrot-Zhang, V Ragoussis, Y Joly - Genome medicine, 2016 - Springer
Precision medicine (PM) can be defined as a predictive, preventive, personalized, and
participatory healthcare service delivery model. Recent developments in molecular biology …

Quality of life drives patients' preferences for secondary findings from genomic sequencing

C Mighton, L Carlsson, M Clausen… - European Journal of …, 2020 - nature.com
There is growing impetus to include measures of personal utility, the nonmedical value of
information, in addition to clinical utility in health technology assessment (HTA) of genomic …