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Is it Time for Genomic Counseling? Retrofitting Genetic Counseling for the Era of Genomic Medicine

  • Genetic Counseling and Clinical Testing (BS LeRoy & N Callanan, Section Editors)
  • Published:
Current Genetic Medicine Reports Aims and scope Submit manuscript

Abstract

Over time, there has been a significant increase in clinical genetic testing technologies, including whole exome sequencing and large multi-gene panels, as well as the number of conditions for which testing is available, the settings in which testing is offered, and the utilization of a genotype-first evaluative strategy. Discussing the risks and benefits of each potentially appropriate test, including the possibility for incidental or uncertain findings, has added a level of informational complexity that did not exist when the original models of genetic counseling were developed. We review how genetic counseling paradigms have evolved over time, articulate some key differences between genetic and genomic counseling, and suggest a ‘back to basics’ approach that reprioritizes psychosocial counseling and the crafting of ‘take-home messages’ tailored to the motivation for and expectations of genetic evaluation. Additionally, we offer some practical approaches to exploring patients’ potential responses to testing outcomes.

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Acknowledgments

The authors would like to thank Ms. Barbara Bernhardt, Ms. Rebecca Mueller, and Dr. Louise Pyle for their thoughtful comments on previous drafts of this manuscript.

Disclosure

SL Merrill and KJ Guthrie both declare no conflicts of interest.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

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Authors and Affiliations

  1. Division of Translational Medicine and Human Genetics, Hospital of the University of Pennsylvania, 3400 Spruce Street 1115 Penn Tower, Philadelphia, PA, 19104, USA

    Shana L. Merrill

  2. Center for Individualized Medicine, Mayo Clinic Florida, 4500 San Pablo Road South, Jacksonville, FL, 32224, USA

    Kimberly J. Guthrie

Authors
  1. Shana L. Merrill
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  2. Kimberly J. Guthrie
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Corresponding author

Correspondence to Shana L. Merrill.

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This article is part of the Topical Collection on Genetic Counseling and Clinical Testing.

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Merrill, S.L., Guthrie, K.J. Is it Time for Genomic Counseling? Retrofitting Genetic Counseling for the Era of Genomic Medicine. Curr Genet Med Rep 3, 57–64 (2015). https://doi.org/10.1007/s40142-015-0068-8

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  • DOI: https://doi.org/10.1007/s40142-015-0068-8

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