Literature DB >> 16247292

Developing a sustainable process to provide quality control materials for genetic testing.

Bin Chen1, Catherine D O' Connell, D Joe Boone, Jean A Amos, Jeanne C Beck, Maria M Chan, Daniel H Farkas, Roger V Lebo, Carolyn Sue Richards, Benjamin B Roa, Lawrence M Silverman, David E Barton, Bassem A Bejjani, Dorothy R Belloni, Susan H Bernacki, Michele Caggana, Patricia Charache, Elisabeth Dequeker, Andrea Ferreira-Gonzalez, Kenneth J Friedman, Carol L Greene, Wayne W Grody, William Edward Highsmith, Cecelia S Hinkel, Lisa V Kalman, Ira M Lubin, Elaine Lyon, Deborah A Payne, Victoria M Pratt, Elizabeth Rohlfs, Clark A Rundell, Erasmus Schneider, Ann M Willey, Laurina O Williams, James C Willey, Emily S Winn-Deen, Daynna J Wolff.   

Abstract

PURPOSE: To provide a summary of the outcomes of two working conferences organized by the Centers for Disease Control and Prevention (CDC), to develop recommendations for practical, sustainable mechanisms to make quality control (QC) materials available to the genetic testing community.
METHODS: Participants were selected to include experts in genetic testing and molecular diagnostics from professional organizations, government agencies, industry, laboratories, academic institutions, cell repositories, and proficiency testing (PT)/external Quality Assessment (EQA) programs. Current efforts to develop QC materials for genetic tests were reviewed; key issues and areas of need were identified; and workgroups were formed to address each area of need and to formulate recommendations and next steps.
RESULTS: Recommendations were developed toward establishing a sustainable process to improve the availability of appropriate QC materials for genetic testing, with an emphasis on molecular genetic testing as an initial step.
CONCLUSIONS: Improving the availability of appropriate QC materials is of critical importance for assuring the quality of genetic testing, enhancing performance evaluation and PT/EQA programs, and facilitating new test development. To meet the needs of the rapidly expanding capacity of genetic testing in clinical and public health settings, a comprehensive, coordinated program should be developed. A Genetic Testing Quality Control Materials Program has therefore been established by CDC in March 2005 to serve these needs.

Entities:  

Mesh:

Year:  2005        PMID: 16247292     DOI: 10.1097/01.gim.0000183043.94406.81

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


  17 in total

1.  Quality assurance practices in Europe: a survey of molecular genetic testing laboratories.

Authors:  Sarah Berwouts; Katrina Fanning; Michael A Morris; David E Barton; Elisabeth Dequeker
Journal:  Eur J Hum Genet       Date:  2012-06-27       Impact factor: 4.246

2.  Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project.

Authors:  Victoria M Pratt; Barbara Zehnbauer; Jean Amos Wilson; Ruth Baak; Nikolina Babic; Maria Bettinotti; Arlene Buller; Ken Butz; Matthew Campbell; Chris Civalier; Abdalla El-Badry; Daniel H Farkas; Elaine Lyon; Saptarshi Mandal; Jason McKinney; Kasinathan Muralidharan; LeAnne Noll; Tara Sander; Junaid Shabbeer; Chingying Smith; Milhan Telatar; Lorraine Toji; Anand Vairavan; Carlos Vance; Karen E Weck; Alan H B Wu; Kiang-Teck J Yeo; Markus Zeller; Lisa Kalman
Journal:  J Mol Diagn       Date:  2010-10-01       Impact factor: 5.568

3.  Development of genomic reference materials for cystic fibrosis genetic testing.

Authors:  Victoria M Pratt; Michele Caggana; Christina Bridges; Arlene M Buller; Lisa DiAntonio; W Edward Highsmith; Leonard M Holtegaard; Kasinathan Muralidharan; Elizabeth M Rohlfs; Jack Tarleton; Lorraine Toji; Shannon D Barker; Lisa V Kalman
Journal:  J Mol Diagn       Date:  2009-04-09       Impact factor: 5.568

4.  Characterization of 108 Genomic DNA Reference Materials for 11 Human Leukocyte Antigen Loci: A GeT-RM Collaborative Project.

Authors:  Maria P Bettinotti; Deborah Ferriola; Jamie L Duke; Timothy L Mosbruger; Nikolaos Tairis; Lawrence Jennings; Lisa V Kalman; Dimitri Monos
Journal:  J Mol Diagn       Date:  2018-06-26       Impact factor: 5.568

5.  Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing.

Authors:  Shannon D Barker; Sherri Bale; Jessica Booker; Arlene Buller; Soma Das; Kenneth Friedman; Andrew K Godwin; Wayne W Grody; Edward Highsmith; Jeffery A Kant; Elaine Lyon; Rong Mao; Kristin G Monaghan; Deborah A Payne; Victoria M Pratt; Iris Schrijver; Antony E Shrimpton; Elaine Spector; Milhan Telatar; Lorraine Toji; Karen Weck; Barbara Zehnbauer; Lisa V Kalman
Journal:  J Mol Diagn       Date:  2009-09-18       Impact factor: 5.568

6.  Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent.

Authors:  Lisa Kalman; Jean Amos Wilson; Arlene Buller; John Dixon; Lisa Edelmann; Louis Geller; William Edward Highsmith; Leonard Holtegaard; Ruth Kornreich; Elizabeth M Rohlfs; Toby L Payeur; Tina Sellers; Lorraine Toji; Kasinathan Muralidharan
Journal:  J Mol Diagn       Date:  2009-10-08       Impact factor: 5.568

Review 7.  Reference standards for next-generation sequencing.

Authors:  Simon A Hardwick; Ira W Deveson; Tim R Mercer
Journal:  Nat Rev Genet       Date:  2017-06-19       Impact factor: 53.242

8.  Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing.

Authors:  Lisa V Kalman; Jack C Tarleton; Alan K Percy; Swaroop Aradhya; Sherri Bale; Shannon D Barker; Pinar Bayrak-Toydemir; Christina Bridges; Arlene M Buller-Burckle; Soma Das; Ramaswamy K Iyer; Timothy D Vo; Val V Zvereff; Lorraine H Toji
Journal:  J Mol Diagn       Date:  2014-02-07       Impact factor: 5.568

9.  Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel.

Authors:  Lisa Kalman; Jay Leonard; Norman Gerry; Jack Tarleton; Christina Bridges; Julie M Gastier-Foster; Robert E Pyatt; Eileen Stonerock; Monique A Johnson; C Sue Richards; Iris Schrijver; Tianhui Ma; Vanessa Rangel Miller; Yetsa Adadevoh; Pat Furlong; Christine Beiswanger; Lorraine Toji
Journal:  J Mol Diagn       Date:  2011-03       Impact factor: 5.568

10.  Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.

Authors:  Lisa Kalman; Jack Tarleton; Monica Hitch; Madhuri Hegde; Nick Hjelm; Elizabeth Berry-Kravis; Lili Zhou; James E Hilbert; Elizabeth A Luebbe; Richard T Moxley; Lorraine Toji
Journal:  J Mol Diagn       Date:  2013-05-13       Impact factor: 5.568

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