After the Test: Interpreting a Clinical Report
Document Type
Book Chapter
Publication Date
9-2025
Identifier
DOI: 10.1093/oxfordhb/9780190069964.013.0017
Abstract
Genetic testing is a vital component of genetic counseling. As testing continues to advance at a rapid pace, so too does the complexity of genetic testing reports. Clinical laboratories use established frameworks for variant interpretation. However, the interpretation guidelines may be unclear to nonlaboratory specialists and are prone to misuse. With increased utilization of genetic testing, there is increasing demand for genetic counselors to assist both clinicians and families in the interpretation of genetic testing results. It is therefore of the utmost importance for genetic counselors to have the tools to understand genetic testing reports. This chapter will provide a brief overview of genetic testing, examine interpretation guidelines, and provide a framework for steps to take after a negative test result.
Journal Title
The Oxford Handbook of Genetic Counseling
First Page
343
Last Page
365
Keywords
genetic testing interpretation; genetic testing; variant analysis; next-generation sequencing; clinical genetic testing; reanalysis
Recommended Citation
Thiffault, Isabelle, and Carol J. Saunders, 'After the Test: Interpreting a Clinical Report', in Robin E. Grubs, Emily G. Farrow, and Michael J. Deem (eds), Navigating Contemporary Issues in Genetic Testing and Genetic Counseling Practice, in Michael J. Deem, Robin E. Grubs, and Emily G. Farrow (eds), The Oxford Handbook of Genetic Counseling, Oxford Handbooks (2025; online edn, Oxford Academic, 23 Sept. 2025), https://doi.org/10.1093/oxfordhb/9780190069964.013.0017
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