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The Laboratory-Clinician Team: A Professional Call to Action to Improve Communication and Collaboration for Optimal Patient Care in Chromosomal Microarray Testing

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Journal of Genetic Counseling

Abstract

The International Standards for Cytogenomic Arrays (ISCA) Consortium is a worldwide collaborative effort dedicated to optimizing patient care by improving the quality of chromosomal microarray testing. The primary effort of the ISCA Consortium has been the development of a database of copy number variants (CNVs) identified during the course of clinical microarray testing. This database is a powerful resource for clinicians, laboratories, and researchers, and can be utilized for a variety of applications, such as facilitating standardized interpretations of certain CNVs across laboratories or providing phenotypic information for counseling purposes when published data is sparse. A recognized limitation to the clinical utility of this database, however, is the quality of clinical information available for each patient. Clinical genetic counselors are uniquely suited to facilitate the communication of this information to the laboratory by virtue of their existing clinical responsibilities, case management skills, and appreciation of the evolving nature of scientific knowledge. We intend to highlight the critical role that genetic counselors play in ensuring optimal patient care through contributing to the clinical utility of the ISCA Consortium’s database, as well as the quality of individual patient microarray reports provided by contributing laboratories. Current tools, paper and electronic forms, created to maximize this collaboration are shared. In addition to making a professional commitment to providing complete clinical information, genetic counselors are invited to become ISCA members and to become involved in the discussions and initiatives within the Consortium.

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Acknowledgements

This work was supported by NIH Grant HD064525.

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Authors and Affiliations

  1. Mayo Clinic, 200 First Street SW, Rochester, MN, 55904, USA

    Karen E. Wain, Andrea Muirhead & Elyse Mitchell

  2. Emory University, Atlanta, GA, USA

    Erin Riggs

  3. Columbia University, New York, NY, USA

    Karen Hanson & Melissa Savage

  4. GeneDx, Gaithersburg, MD, USA

    Darlene Riethmaier

  5. Boston University, Boston, MA, USA

    Andrea Muirhead

  6. Geisinger Health System, Danville, PA, USA

    Bethanny Smith Packard & W. Andrew Faucett

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  1. Karen E. Wain
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  2. Erin Riggs
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  3. Karen Hanson
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  4. Melissa Savage
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  5. Darlene Riethmaier
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  6. Andrea Muirhead
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  7. Elyse Mitchell
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  9. W. Andrew Faucett
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Correspondence to Karen E. Wain.

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Wain, K.E., Riggs, E., Hanson, K. et al. The Laboratory-Clinician Team: A Professional Call to Action to Improve Communication and Collaboration for Optimal Patient Care in Chromosomal Microarray Testing. J Genet Counsel 21, 631–637 (2012). https://doi.org/10.1007/s10897-012-9507-9

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  • DOI: https://doi.org/10.1007/s10897-012-9507-9

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