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Cases and evidence for panel testing in cancer genetics: Is site-specific testing dead?
Martha H Thomas1, Lydia K Higgs1,2, Susan C Modesitt3
1Emily Couric Clinical Cancer Center, University of Virginia, Charlottesville, Virginia.
Journal of Genetic Counseling
|February 2, 2019
Summary
Site-specific genetic testing in cancer families may miss crucial pathogenic variants. Advances in genetic testing technology and understanding of complex genetic conditions necessitate re-evaluating its routine use.
Area of Science:
- * Oncology
- * Genetic Counseling
- * Molecular Diagnostics
Background:
- * Traditional cancer genetic counseling often involves site-specific testing for known pathogenic variants within families.
- * Historically, factors like cost, insurance, and turnaround times favored site-specific testing over broader genetic panels.
- * This approach aimed to confirm the presence or absence of a specific familial mutation in at-risk individuals.
Observation:
- * Recent advancements have significantly reduced genetic testing costs and turnaround times.
- * Increased recognition of complex genetic scenarios, such as double heterozygous pathogenic variants and atypical disease presentations, is emerging.
- * Four case studies are presented illustrating potential diagnostic limitations of site-specific testing.
Findings:
- * Site-specific testing can overlook additional, clinically relevant pathogenic variants not targeted by the initial test.
- * In complex cases, relying solely on site-specific testing may lead to incomplete genetic diagnoses.
- * The utility of site-specific testing is diminishing with evolving genetic technologies and understanding.
Implications:
- * The findings challenge the routine use of site-specific testing in contemporary cancer genetic counseling.
- * Broader genetic testing strategies may be more appropriate for accurately diagnosing hereditary cancer syndromes.
- * Re-evaluation of current genetic testing protocols is warranted to ensure comprehensive patient care and diagnosis.
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