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

Bin Chen, 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. FriedmanCarol 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

Research output: Contribution to journalReview articlepeer-review

36 Scopus citations


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)/extemal 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.

Original languageEnglish (US)
Pages (from-to)534-549
Number of pages16
JournalGenetics in Medicine
Issue number8
StatePublished - Oct 2005


  • Genetic Testing
  • Quality Assurance
  • Quality Control
  • Quality Control Materials
  • Reference Materials

ASJC Scopus subject areas

  • Genetics(clinical)


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