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Universal Germline Testing of Unselected Cancer Patients Detects Pathogenic Variants Missed by Standard Guidelines
Adrienne T Perkins1, Derrick Haslem1, Jessica Goldsberry1
1Intermountain Healthcare, Precision Genomics, Saint George, UT 84790, USA.
Cancers
|November 27, 2021
Summary
Universal genetic testing for all cancer patients identifies pathogenic germline variants (PGVs) in 15% of cases, including those ineligible by current guidelines. This approach accurately diagnoses hereditary cancer syndromes without increasing healthcare costs.
Area of Science:
- Oncology
- Genetics
- Health Economics
Background:
- Hereditary cancer syndromes significantly impact patient outcomes.
- Current genetic testing guidelines may not identify all individuals with pathogenic germline variants (PGVs).
Purpose of the Study:
- To determine the frequency of PGVs in an unselected pan-cancer population using universal genetic testing.
- To evaluate the economic impact of universal genetic testing on healthcare costs.
Main Methods:
- Prospective study involving germline genetic testing with a 105-gene panel in an unselected pan-cancer cohort.
- Analysis of financial records to assess the cost of care one year post-testing.
Main Results:
- 44 out of 284 patients (15%) had detectable PGVs across 14 cancer types.
- Over half (52%) of patients with PGVs did not meet current guideline criteria for testing.
- PGV detection did not lead to an increase in the cost of care.
Conclusions:
- Universal genetic testing in cancer patients is essential for comprehensive diagnosis and treatment of hereditary cancer syndromes.
- Implementing genetic testing beyond current guidelines is clinically necessary and economically viable.
