Testing Strategies: Navigating the Path of Genetic Testing
Document Type
Book Chapter
Publication Date
9-2025
Identifier
DOI: 10.1093/oxfordhb/9780190069964.013.0016
Abstract
The rapid implementation of next-generation sequencing into clinical practice has dramatically changed genetic testing. As technology has expanded, so too has the number of testing options and laboratories. However, not all clinical tests and laboratories are created equally, and genetic testing is increasingly complex. Laboratory stewardship is one responsibility of genetic counselors, which requires a basic understanding of the capabilities and limitations of frequently ordered genetic tests. This chapter provides genetic counselors with a framework for evaluating clinical genetic tests, genomic technologies, and testing laboratories. Concepts that will be discussed include differentiating between types of genetic tests, understanding clinical laboratory regulations, strategies for evaluating testing laboratories, and the strengths and limitations of current testing technologies. The chapter will conclude with a discussion on balancing the desire to order the right test within the reality of financial constraints, from both institutional and patient perspectives.
Journal Title
The Oxford Handbook of Genetic Counseling
First Page
324
Last Page
342
Keywords
genetic testing; laboratory stewardship; next-generation sequencing; diagnostics; genome sequencing
Recommended Citation
Zellmer, Lee A., and Emily G. Farrow, 'Testing Strategies: Navigating the Path of Genetic Testing', 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/9780190069964.013.0016
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