The development of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE): a novel strategy for measuring the clinical utility of genetic testing

Genetics in Medicine : Official Journal of the American College of Medical Genetics
R Z HayeemsM S Meyn

Abstract

Clinical utility describes a genetic test's value to patients, families, health-care providers, systems, or society. This study aims to define clinical utility from the perspective of clinicians and develop a novel outcome measure that operationalizes this concept. Item selection for the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) was informed by a scoping review of the literature. Item reduction was guided by qualitative and quantitative feedback from semistructured interviews and a cross-sectional survey of genetics and nongenetics specialists. Final item selection, index scoring, and structure were guided by feedback from an expert panel of genetics professionals. A review of 194 publications informed the selection of a preliminary set of 25 items. Feedback from 35 semistructured interviews, 113 surveys, and 11 expert panelists informed the content and wording of C-GUIDE's final set of 18 items that reflect on the utility of testing related to diagnosis, management, and familial/psychosocial impact. C-GUIDE achieves content and face validity for use in a range of diagnostic genetic testing settings. Work to establish reliability and construct validity is underway. C-GUIDE will be useful in comparative studies ...Continue Reading

References

Apr 1, 1991·Medical Decision Making : an International Journal of the Society for Medical Decision Making·D G Fryback, J R Thornbury
Jul 1, 1993·The American Journal of Emergency Medicine·B H Rowe, A D Oxman
Jul 18, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Scott D Grosse, Muin J Khoury
Apr 17, 2010·Public Health Genomics·Wylie BurkeN Press
Feb 23, 2012·BMJ : British Medical Journal·Lavinia Ferrante di RuffanoJonathan J Deeks
Jun 26, 2012·Clinical Chemistry·Patrick M M BossuytKarel G M Moons
Oct 20, 2012·BMC Medical Informatics and Decision Making·Jennifer S LinEvelyn P Whitlock
Jan 12, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Teri A ManolioGeoffrey S Ginsburg
Jul 24, 2013·Annual Review of Genomics and Human Genetics·Christopher H WadeBenjamin S Wilfond
Nov 13, 2013·JAMA Internal Medicine·Katherine A Johansen TaberModena Wilson
Jul 10, 2014·Health Affairs·Kathryn A PhillipsChristine B Weldon
Jan 2, 2015·Journal of Neurosciences in Rural Practice·Thomas I Lemon
Mar 13, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·UNKNOWN ACMG Board of Directors
Mar 16, 2017·European Journal of Human Genetics : EJHG·Jennefer N KohlerBarbara B Biesecker
May 23, 2017·Children·Krista OeiEyal Cohen
Feb 10, 2018·European Journal of Human Genetics : EJHG·Erica PitiniPaolo Villari
Sep 27, 2019·Journal of Managed Care & Specialty Pharmacy·Robin Z HayeemsWendy J Ungar
Oct 23, 2020·European Journal of Human Genetics : EJHG·Shantel E WalcottRobin Z Hayeems

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Citations

Jul 15, 2020·Autism Research : Official Journal of the International Society for Autism Research·Aaron D BestermanJulian A Martinez-Agosto
Nov 20, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Caryn Kseniya RubanovichCinnamon S Bloss
Nov 20, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·R Z HayeemsM S Meyn
Oct 23, 2020·European Journal of Human Genetics : EJHG·Shantel E WalcottRobin Z Hayeems

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Software Mentioned

NVivo
GUIDE
InDEx (
- GUIDE )

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