Literature DB >> 24763995

Genetic tests: clinical validity and clinical utility.

Wylie Burke1.   

Abstract

When evaluating the appropriate use of new genetic tests, clinicians and health care policymakers must consider the accuracy with which a test identifies a patient's clinical status (clinical validity) and the risks and benefits resulting from test use (clinical utility). Genetic tests in current use vary in accuracy and potential to improve health outcomes, and these test properties may be influenced by testing technology and the clinical setting in which the test is used. This unit defines clinical validity and clinical utility, provides examples, and considers the implications of these test properties for clinical practice.
Copyright © 2014 John Wiley & Sons, Inc.

Entities:  

Keywords:  clinical utility; clinical validity; penetrance; predictive value

Mesh：

Year:  2014        PMID： 24763995      PMCID： PMC4084965          DOI： 10.1002/0471142905.hg0915s81

Source DB:  PubMed          Journal:  Curr Protoc Hum Genet        ISSN： 1934-8258


  32 in total

Review 1.  Sickle hemoglobin (HbS) allele and sickle cell disease: a HuGE review.

Authors:  A Ashley-Koch; Q Yang; R S Olney
Journal:  Am J Epidemiol       Date:  2000-05-01       Impact factor: 4.897

2.  Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer.

Authors:  H J Järvinen; M Aarnio; H Mustonen; K Aktan-Collan; L A Aaltonen; P Peltomäki; A De La Chapelle; J P Mecklin
Journal:  Gastroenterology       Date:  2000-05       Impact factor: 22.682

Review 3.  Natural history and management of HFE-hemochromatosis.

Authors:  Eng K Gan; Lawrie W Powell; John K Olynyk
Journal:  Semin Liver Dis       Date:  2011-09-07       Impact factor: 6.115

Review 4.  Inherited mutations in breast cancer genes--risk and response.

Authors:  Andrew Y Shuen; William D Foulkes
Journal:  J Mammary Gland Biol Neoplasia       Date:  2011-04-05       Impact factor: 2.673

5.  Comparative effectiveness research in cancer genomics and precision medicine: current landscape and future prospects.

Authors:  Naoko I Simonds; Muin J Khoury; Sheri D Schully; Katrina Armstrong; Wendy F Cohn; David A Fenstermacher; Geoffrey S Ginsburg; Katrina A B Goddard; William A Knaus; Gary H Lyman; Scott D Ramsey; Jianfeng Xu; Andrew N Freedman
Journal:  J Natl Cancer Inst       Date:  2013-05-09       Impact factor: 13.506

6.  Strengthening the reporting of Genetic Risk Prediction Studies: the GRIPS statement.

Authors:  A Cecile J W Janssens; John P A Ioannidis; Cornelia M van Duijn; Julian Little; Muin J Khoury
Journal:  Genet Med       Date:  2011-05       Impact factor: 8.822

Review 7.  Abundant pleiotropy in human complex diseases and traits.

Authors:  Shanya Sivakumaran; Felix Agakov; Evropi Theodoratou; James G Prendergast; Lina Zgaga; Teri Manolio; Igor Rudan; Paul McKeigue; James F Wilson; Harry Campbell
Journal:  Am J Hum Genet       Date:  2011-11-11       Impact factor: 11.025

Review 8.  How can polygenic inheritance be used in population screening for common diseases?

Authors:  Muin J Khoury; A Cecile J W Janssens; David F Ransohoff
Journal:  Genet Med       Date:  2013-02-14       Impact factor: 8.822

9.  ACMG position statement on prenatal/preconception expanded carrier screening.

Authors:  Wayne W Grody; Barry H Thompson; Anthony R Gregg; Lora H Bean; Kristin G Monaghan; Adele Schneider; Roger V Lebo
Journal:  Genet Med       Date:  2013-04-25       Impact factor: 8.822

10.  Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts.

Authors:  Hans F A Vasen; Ignacio Blanco; Katja Aktan-Collan; Jessica P Gopie; Angel Alonso; Stefan Aretz; Inge Bernstein; Lucio Bertario; John Burn; Gabriel Capella; Chrystelle Colas; Christoph Engel; Ian M Frayling; Maurizio Genuardi; Karl Heinimann; Frederik J Hes; Shirley V Hodgson; John A Karagiannis; Fiona Lalloo; Annika Lindblom; Jukka-Pekka Mecklin; Pal Møller; Torben Myrhoj; Fokko M Nagengast; Yann Parc; Maurizio Ponz de Leon; Laura Renkonen-Sinisalo; Julian R Sampson; Astrid Stormorken; Rolf H Sijmons; Sabine Tejpar; Huw J W Thomas; Nils Rahner; Juul T Wijnen; Heikki Juhani Järvinen; Gabriela Möslein
Journal:  Gut       Date:  2013-02-13       Impact factor: 23.059
View more
  26 in total

Review 1.  The Role of Next-Generation Sequencing in Pharmacogenetics and Pharmacogenomics.

Authors:  Ute I Schwarz; Markus Gulilat; Richard B Kim
Journal:  Cold Spring Harb Perspect Med       Date:  2019-02-01       Impact factor: 6.915

2.  Sequencing Newborns: A Call for Nuanced Use of Genomic Technologies.

Authors:  Josephine Johnston; John D Lantos; Aaron Goldenberg; Flavia Chen; Erik Parens; Barbara A Koenig
Journal:  Hastings Cent Rep       Date:  2018-07       Impact factor: 2.683

Review 3.  Ethical issues in pediatric genetic testing and screening.

Authors:  Jeffrey R Botkin
Journal:  Curr Opin Pediatr       Date:  2016-12       Impact factor: 2.856

Review 4.  Bridging the Gaps in Personalized Medicine Value Assessment: A Review of the Need for Outcome Metrics across Stakeholders and Scientific Disciplines.

Authors:  William S Bush; Jessica N Cooke Bailey; Mark F Beno; Dana C Crawford
Journal:  Public Health Genomics       Date:  2019-08-27       Impact factor: 2.000

5.  Clinical and analytical validation of FoundationOne®CDx, a comprehensive genomic profiling assay for solid tumors.

Authors:  Coren A Milbury; James Creeden; Wai-Ki Yip; David L Smith; Varun Pattani; Kristi Maxwell; Bethany Sawchyn; Ole Gjoerup; Wei Meng; Joel Skoletsky; Alvin D Concepcion; Yanhua Tang; Xiaobo Bai; Ninad Dewal; Pei Ma; Shannon T Bailey; James Thornton; Dean C Pavlick; Garrett M Frampton; Daniel Lieber; Jared White; Christine Burns; Christine Vietz
Journal:  PLoS One       Date:  2022-03-16       Impact factor: 3.240

Review 6.  Risk-Adjusted Cancer Screening and Prevention (RiskAP): Complementing Screening for Early Disease Detection by a Learning Screening Based on Risk Factors.

Authors:  Rita K Schmutzler; Björn Schmitz-Luhn; Bettina Borisch; Peter Devilee; Diana Eccles; Per Hall; Judith Balmaña; Stefania Boccia; Peter Dabrock; Günter Emons; Wolfgang Gaissmaier; Jacek Gronwald; Stefanie Houwaart; Stefan Huster; Karin Kast; Alexander Katalinic; Sabine C Linn; Sowmiya Moorthie; Paul Pharoah; Kerstin Rhiem; Tade Spranger; Dominique Stoppa-Lyonnet; Johannes Jozef Marten van Delden; Marc van den Bulcke; Christiane Woopen
Journal:  Breast Care (Basel)       Date:  2021-08-12       Impact factor: 2.268

7.  Development of a Streamlined Work Flow for Handling Patients' Genetic Testing Insurance Authorizations.

Authors:  Wendy R Uhlmann; Katie Schwalm; Victoria M Raymond
Journal:  J Genet Couns       Date:  2017-04-24       Impact factor: 2.537

Review 8.  Should All Individuals Be Screened for Genetic Predisposition to Cancer?

Authors:  Sarah Wedderburn; Terri P McVeigh
Journal:  Genet Res (Camb)       Date:  2021-01-09       Impact factor: 1.588

9.  Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.

Authors:  Clair Engelbrecht; Michael Urban; Mardelle Schoeman; Brandon Paarwater; Ansia van Coller; Deepthi Raju Abraham; Helena Cornelissen; Richard Glashoff; Monika Esser; Marlo Möller; Craig Kinnear; Brigitte Glanzmann
Journal:  Front Immunol       Date:  2021-05-21       Impact factor: 7.561

Review 10.  Pharmacogenetic approaches in the treatment of alcohol use disorders: addressing clinical utility and implementation thresholds.

Authors:  Christian S Hendershot
Journal:  Addict Sci Clin Pract       Date:  2014-09-13
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.